Property Summary

NCBI Gene PubMed Count 198
PubMed Score 1066.07
PubTator Score 1044.93

Knowledge Summary

Patent (22,628)


  Disease (9)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Episodic ataxia 17 0.0 5.0
Familial hemiplegic migraine 6 0.0 5.0


  Differential Expression (13)

Disease log2 FC p
posterior fossa group B ependymoma 2.800 1.4e-11
oligodendroglioma 1.100 3.7e-02
cutaneous lupus erythematosus 1.200 1.3e-02
glioblastoma -3.100 2.2e-04
group 3 medulloblastoma -2.200 4.7e-03
atypical teratoid / rhabdoid tumor -3.700 8.6e-08
medulloblastoma, large-cell -2.800 4.7e-03
primitive neuroectodermal tumor -3.300 1.1e-04
pediatric high grade glioma -2.500 4.3e-05
pilocytic astrocytoma -1.300 2.6e-03
non primary Sjogren syndrome sicca 1.100 2.2e-02
lung carcinoma 2.000 1.6e-16
ovarian cancer 1.200 7.5e-06

Gene RIF (165)

26912519 Cav2.1 dysfunction in episodic ataxia type 2 has unexpected effects on axon excitability.
26566276 CACNA1A might play a role in the etiology of autism as demonstrated in the Chinese Han population
26507659 the consensus motifs of S-nitrosylation were much more abundant in Cav2.2 than in Cav1.2 and Cav2.1.
26216687 Study revealed no association between the 15 tagSNPs of CACNA1A, 1C, and 1H and antiepileptic drug efficacy in the Chinese Han epileptic population; the TAGAA haplotype of CACNA1A may be a risk factor for drug resistance
26063920 The results of this study suggest that the polyQ carrying the CT fragment of the P/Q-type channel is sufficient to cause SCA6 pathogenesis in mice.
25954029 Expression of DnaJ-1 potently suppresses alpha1ACT-dependent degeneration , concomitant with decreased aggregation of the pathogenic protein. Mutating the nuclear importer karyopherin a3 also leads to reduced toxicity from pathogenic CACNA1A
25869926 South American cohort did not confirm the effect of the four candidate loci as modifier of onset age: mithocondrial A10398G polymorphism and CAGn at RAI1, CACNA1A, ATXN3, and ATXN7 genes
25784583 This study showed that Genetic analyses identified a nonsense mutation in exon 23 which has been registered in dbSNP as a pathogenic allele.
25735478 This report illustrates the phenotypic heterogeneity of CACNA1A loss-of-function mutations and stresses the cognitive and epileptic manifestations caused by the loss of CaV2.1 channels function
25706626 A genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to exfoliation syndrome.
25468264 A novel nonsense mutation of the CACNA1A gene was identified in all affected family members and is most likely the disease causing molecular defect
25109669 This study preseent mouse model of episodic ataxia type 2 in missense mutation of CACNA1A.
24907493 Findings suggest that the unaltered inhibitory transmission at multipolar interneuron autapses is due to the expression of specific CaV2.1 channels whose gating is barely affected by the familial hemiplegic migraine type 1 mutation
24842051 The roles of the calcium-sensing receptor (CaSR) and L-type voltage-dependent calcium channel (L-VDCC) in the proliferation and osteogenic differentiation of a calcium-exposed periodontal ligament stem/progenitor cells, were investigated .
24658662 In this review and case report, a novel CACNA1A point mutation was linked to episodic ataxia type 2.
24486772 In three unrelated families with dominant cerebellar ataxia, symptoms cosegregated with CACNA1A missense mutations of evolutionary highly conserved amino acids.
24445160 report here two new benign paroxysmal torticollis of infancy patients from the same family carrying a heterozygous mutation in the CACNA1A gene leading to the change p.Glu533Lys
24329154 Cav2.1 expression is inhibited by prion protein expression which competes with glycosylphosphatidylinosital-anchoring pathways.
24275721 Novel mutations in CACNA1A genes are associated with episodic ataxia type 2.
24108129 a genetic variant in the synprint site of the CaV2.1 channel which is characterized by a gain-of-function and associated with both hemiplegic migraine and migraine with aura in patients.
24046065 We describe a novel CACNA1A mutation and an unclassified CACNA1A in-frame variant in a Swiss family presenting as the episodic ataxia type 2 phenotype associated with reduced saccade velocity.
23827678 CACNA1A coordinates gene expression using a bicistronic mRNA bearing a cryptic internal ribosomal entry site (IRES). The first cistron encodes the well-characterized alpha1A subunit. The second expresses a transcription factor, alpha1ACT, which coordinates expression of a program of genes involved in neural and Purkinje cell development.
23726906 Mice injected with P/Q type voltage-gated calcium channel antibodies from patients with paraneoplastic cerebellar degeneration develop marked reversible ataxia compared to controls.
23505410 Cytoplasmic location of alpha1A voltage-gated calcium channel C-terminal fragment (Cav2.1-CTF) aggregate is sufficient to cause cell death.
23441182 This is the first report of Type 2 episodic ataxia in a Chinese family that carries a novel mutation in CACNA1A gene and had abdominal pain as a novel phenotype associated with EA2.
23430985 These results suggest that the extent of G-protein-mediated inhibition is significantly reduced in the K1336E mutant CaV2.1 Ca(2+) channels
23407676 The clinical spectrum of missense mutation in CACNA1A-related disorders is much broader than in strictly familial hemiplegic migraine.
23344743 Genetic analysis identified a splice site mutation (p.Val1465Glyfs13X)and normal trinucleotide repeats in CACNA1A in all clinically affected and one unaffected members of a Korean family with EA2 with genetic anticipation
23255606 analysis of Ca2+-independent activation of Ca2+/calmodulin-dependent protein kinase II bound to the C-terminal domain of CaV2.1 calcium channels
23103419 We conclude that CACNA1A variants in some persons with Dravet syndrome may modify the epileptic phenotypes.
22969264 The gene mutation analysis performed in the patient and his mother led to the identification of a heterozygous point mutation (1997C-->T, T666M) in the exon 16 of the CACNA1A gene.
22942164 This observation suggests that paroxysmal sensoriphobia and digestive signs can occur together in bouts in neurological conditions other than migraine, and in the absence of head pain.
22549042 The W1684R and V1696I mutations affect the apparent dissociation and reassociation rates of the Gbetagamma dimer from the channel complex, suggesting that the G protein-Ca(2+) channel affinity may be altered by the CACNA1A gene mutations.
22190617 The results suggest a possible scenario through which FHM-1 mutations might increase the gain of the trigeminal nociceptive pathway.
22074995 Mutations in CaV2.1 Ca2+ channels cause familial hemiplegic migraine type 1 (FHM1).
21965686 analysis of CaV2.1 channel regulation by calcium-binding protein-1
21827920 CACNA1A mutation association with Episodic ataxias 2.
21827907 The Spinocerebellar ataxia type 6 is caused by a CAG repeat expansion in the CACNA1A gene which encodes the alpha1A subunit of the P/Q-type voltage-gated calcium channel.
21788606 Data showed expression of L-type (Ca(v) 1.2), P/Q-type (Ca(v) 2.1), and T-type subtype (Ca(v) 3.1 and Ca(v) 3.2) voltage-gated calcium channels (Ca(v)s) in renal artery and dissected intrarenal blood vessels from nephrectomies.
21768184 CACNA1A mutations can give significant symptoms other than (hemiplegic) migraine as reason for presentation.
21696515 EA2 is caused by mutations in the CACNA1A gene encoding the alpha 1A subunit of the Cav2.1 calcium channel on chromosome 19p13.
21550405 Pathogenic CAG expansions in Cav2.1 enhance splicing activity at the 3'end of the CACNA1A transcript, leading to a CAG repeat length-dependent increase in the levels of a Cav2.1 mRNA splice isoform and the resultant disease protein.
21440913 Study of episodic ataxia 2 in neurologically mutant mice has implications in humans for a haploinsufficiency mechanism, at least for some of the Cacna1a mutations leading to a premature stop codon.
21183743 A novel voltage sensor mutation in CACNA1A calcium channel is found to be responsible for recurrent stroke in a young girl.
21078624 identified 118 protein interactions for CACNA1A and ATXN7 linking them to other ataxia-causing proteins and the ataxia network; ataxia network is significantly enriched for proteins that interact with known macular degeneration-causing proteins
20837964 CACNA1A gene is involved in early-onset sporadic hemiplegic migraine, in particular when associated with neurologic signs
20682717 Neurophysiological findings confirmed possible cerebral cortex and white matter involvement regardless of the clinical symptoms displayed in a family with a novel CACNA1A mutation
20631222 In transgenic knock-in Cacna1a Ser218Leu mice there are progressive and severe release aberrations of acetylcholine in familial hemiplegic migraine type 1.
20495360 Demonstrated that the P/Qtype Ca2+ channel, could associate with Syt1, and the SNARE proteins to generate a distinct and kinetically active complex for depolarization-evoked neurotransmitter release.
20484531 our results indicate that consequences of FHM mutations might vary according to the shape of action potentials in charge of triggering synaptic transmission
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20156848 We conclude that variants in the coding region of CACNA1A that confer a loss of P/Q-type channel function are associated with episodic ataxia and epilepsy
20129625 Our data substantially increase the number of the described CACNA1A mutations, and propose clinical and molecular criteria for a more focused genetic screening.
20091047 mutations in the gene encoding the Cav2.1 alpha1 subunit (CACNA1A) have been linked to absence seizures in both humans and rodents.[
20080591 report on a mutation identified in the first intracellular loop of CACNA1A (alpha(1A(A454T))) that does not cause familial hemiplegic migraine but is associated with the absence of sensorimotor symptoms in a migraine with aura pedigree.
20071244 sporadic hemiplegic migraine and epilepsy associated with CACNA2A gene mutation.
20069235 Observational study of gene-disease association. (HuGE Navigator)
20043243 Transgenic leaner mice which carry autosomal recessive mutations in the CACNA1A calcium channel gene show extensive apoptotic cell death in cerebellar granule cells during postnatal development.
20043227 Spinocerebellar ataxia type 6 pathogenesis may be associated with the 75-85-kDa Ca(v)2.1 C-terminal fragment, normally found in the cytoplasm, being aggregated in the cytoplasm and additionally distributed in the nucleus.
19864665 Genetic analysis revealed three novel mutations in the calcium channel gene CACNA1A (chromosome 19p13)in five patients with episodic ataxia type 2
19811514 We describe a novel de novo mutation in CACNA1A (p. Arg1349Gln) in a child with severe hemiplegic migraine induced by minor head trauma.
19633872 CACNA1A large deletions have roles in episodic ataxia
19624685 We describe four individuals, spanning three generations of a family, with episodic ataxia without hemiplegia and confusion, in association with a CACNA1A mutation
19586927 The authors identified five previously unreported large scale deletions in CACNA1A in seven families with episodic ataxia and in one case with hemiplegic migraine.
19527141 CACNA1A polymorphisms do not represent primary predisposing factors for the pathogenesis of common migraine in Italian patients.
19527141 Observational study of gene-disease association. (HuGE Navigator)
19520699 CACNA1A S218L mutation was correlated with early seizures and cerebral oedema after trivial head trauma
19486177 CACNA1A gene mutation may contribute to both typical EA2 and typical basilar-type migraine, extending the spectrum of clinical manifestations associated with CACNA1A mutations
19438926 specific, severe phenotype and the co-occurrence of hemiplegic migraine and epilepsy related to the S218L FHM1 mutation
19429006 E918D & E993V SNPs were found in 30/117 & 32/117 migraine patients; prevalence of these SNPs separately was not significantly different from controls; coexistence of both SNPs was more frequent in migraineurs than controls
19429006 Observational study of gene-disease association. (HuGE Navigator)
19259763 Observational study of gene-disease association. (HuGE Navigator)
19242091 All three familial hemiplegic migraine CAV2.1 mutations cause a greater hyperpolarizing shift in voltage-dependent properties when expressed in the short carboxyl terminus variant (Ca(V)2.1 Delta47) compared to the long variant (Ca(V)2.1 +47)
19235102 Observational study of gene-disease association. (HuGE Navigator)
19189122 Together, our data suggest that Y1245C alters the structure of the alpha(1A) voltage sensor producing an overall gain of channel function that may explain the observed clinical phenotypes.
19182766 a CACNA1A mutation in the intracellular domain between s4 and s5 of repeat 3 can cause atypical nystagmus/cerebellar phenotypes, including isolated nystagmus
19145126 We report a case of nystagmus and skew deviation in a patient with spinocerebellar ataxia type 6 (SCA-6) and discuss the role of the cerebellum as a plausible mechanism for this combined pathologic condition.
19007941 familial hemiplegic migraine 3 is a high resistant molecule when compared to FHM1 and FHM2
18976783 Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia.
18973067 Observational study of gene-disease association. (HuGE Navigator)
18940563 CACNA1A gene revealed a de novo Ile712Val sequence variant in patient with seizures, ataxia, headache, a decreased level of consciousness, and motor regression, with a background of mental retardation and mild cerebellar atrophy
18758887 report of a two-generation family with several individuals affected, with benign paroxysmal tonic upgaze, benign paroxysmal torticollis or episodic ataxia; a heterozygous point mutation in exon 18 of CACNA1A (c.2206C>T)was identified
18755274 proband identified with severe myoclonic epilepsy in infancy heterozygous for de novo SCN1A nonsense mutation & CACNB4 missense mutation (R468Q); greater Ca(v)2.1 currents caused by the mutation may increase neurotransmitter release in excitatory neurons
18670797 study reports a Japanese family with a T666M missense mutation in the protein encoded by CACNA1A; affected members demonstrated a broad clinical spectrum; despite the variability, all members exhibited marked downbeat positioning nystagmus
18644040 Two novel CACNA1A variants, p.Val581Met and p.Tyr1245Cys, and a previously annotated change, p.Cys1534Ser, were identified in individuals with hemiplegic migraine, although they have not yet been proven to be pathogenic
18606230 Three novel stop code mutations in CaV2.1 causing episodic ataxia type 2 do not affect alternate exon 37B. These findings reveal unexpected dependence of cerebellar function on intact exon 37A-containing Ca(V)2.1 channels.
18602318 Episodic ataxia type 2 shows ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation coding for Y248C.
18581134 The S218L familial hemiplegic migraine mutation promotes deinhibition of Ca(v)2.1 calcium channels during direct G-protein regulation.
18541804 Genotyping of CACNA1A shows nonmendelian inheritance of a CAG repeat located at the 3' end of the gene in a mother and daughter and suggests a deletion of several exons of CACNA1A, which is subsequently confirmed.
18513263 4 new variants were found in exons of the CACNA1A gene in sporadic hemiplegic migraine patients. It does not seem that CACNA1A is a major gene in SHM.
18513263 Observational study of gene-disease association. (HuGE Navigator)
18498393 These results also suggest that CACNA1A mutation scanning is indicated in patients with a severe neurological phenotype that includes paroxysmal (alternating) hemiplegia.
18478327 These results suggest that in some case of Guillain-Barre syndrome, particularly of acute motor axonal neuropathy patients with IgG anti-GM1 mAb, muscle weakness may be induced by dysfunction of Cav2.1 VDCC functioning at the motor nerve terminals.
18437043 Report highlights profound phenotypic variability that can be associated with CACNA1A mutations associated with cerebellar ataxia.
18413478 To identify early abnormalities of ocular motor function in individuals who have the spinocerebellar ataxia type 6 (SCA6) gene (CACNA1A) but no clinical symptoms.
18400034 CACNA1A a frequent recurrent mutation in hemiplegic migraine.
18338196 This family was found to have a novel mutation at codon 1451 of the Ca2+ channel alpha 1A subunit. Excitability testing may prove a convenient screening test for patients with this suspected channelopathy.
18313928 This study present three siblings with the mutation(CACNA1A S218L) with the novel association of childhood seizures, and highlight the dynamic changes seen on electroencephalography during hemiplegic migraine attacks.
18285829 A core CACNA1A disease haplotype was found in affected individuals across the globe.
18279427 T666M CACNA1A mutation in early onset familial hemiplegic migraine type 1 with cerebellar atrophy and mental retardation
18162541 CaV2.1 channels are modulated by Ca2+/calmodulin-dependent protein kinase II bound to the C-terminal domain
18056581 Sequence variants were identified in seven SHM patients: one CACNA1A mutation, five ATP1A2 mutations, and one SCN1A polymorphism. All six mutations caused functional changes in cellular assays.
17672918 validated occurrence of unusual TG 3' splice sites in intron 9
17654512 Dominant-negative effects of EA2 mutations involve disruption of membrane trafficking of human PQ-type Ca2+ channels.
17588611 Early onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop.
17573560 The alpha1A subunit, CACNA1A, is the specific pore-forming structure in P/Q-type voltage-dependent calcium channels found only in neurons. The role of these channels and CACNA1A mutations in neurological diseases is emphasized. Review.
17438119 Ion channel gating is regulated by calcium and calmodulin binding.
17418573 Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.
17292920 Direct sequencing of CACNA1A identified a heterozygous 1360G>A mutation in exon 11 resulting in the substitution of alanine for threonine at residue 454 in two patients with hereditary ataxia.
17289272 Functional studies of KLHL1 on P/Q-type current properties reveal a significant increase in mean current density in the presence of KLHL1.
17119788 study to identify whether CACNA1A and ATP1A2 are or not related to Brazilian familial hemiplegic migraine
17020933 We found that SCA6 channels have decreased activity-dependent inactivation and a depolarizing shift (+6 mV) in steady-state inactivation properties consistent with a gain of function.
16595610 The C-terminal fragment of CACNA1A bears a polyglutamine tract which, when expanded (Q33) as in spinocerebellar ataxia type 6 (SCA6), is toxic to cells.
16508934 Study shows that the CACNA1A gene is probably not involved in migraine with aura.
16389595 Observational study of gene-disease association. (HuGE Navigator)
16373336 Ca2+-dependent inactivation of Ca(v)2.1 depends on a subplasmalemmal Ca2+ microdomain that is affected by the amplitude of the Ca2+ current and differentially modulated by distinct Ca2+ buffers
16325861 a patient with early onset, non fluctuating spinocerebellar ataxia carries a novel de novo missense mutation in this gene, p.R1664Q.
16306128 Results indicate that for human P/Q-type Ca(2+) channels with the long-alpha(1A)-subunit isoform, both missense and nonsense episodic ataxia type 2 mutants indeed display prominent dominant-negative effects.
16186543 The authors describe a case of late-onset EA2 associated with the first multiple-base pair insertion in CACNA1A. Molecular expression revealed evidence of impaired calcium channel function.
16043807 In a UK national study, the authors analyzed 15 index cases with typical EA2 and identified two unreported intronic CACNA1A mutations that predict aberrant splicing.
15985579 In addition to altered channel function, the deficiency in protein misfolding and trafficking associated with the CACNA1A C287Y and G293R mutants may contribute to the slowly progressive cerebellar ataxia.
15827025 Mutated in patients with episodic ataxia type 2, suggested involvement outside the cerebellum.
15826995 presence of significant floccular atrophy compared with controls in both ataxin-2 and Ca(V)2.1 mutations
15795222 most prevalent mutation, a threonine to methionine substitution at position 666, affects both ionic current and gating current associated with channel activation
15743764 The unique combination of a particularly slow inactivation of mutant S218L CaV2.1 channel during cortical spreading depression and a somewhat low threshold of channel activation might lead to delayed severe cerebral edema and coma after minor head trauma.
15710862 This study have identified 2 novel truncating mutations of CACNA1A that are associated with interictal dystonia.
15545010 Leaner mice carry a homozygous, autosomal recessive mutation in the CACNA1A gene encoding the Alpha1A subunit of P/Q-type calcium channels. Leaner cerebellar granule cells die via an apoptotic process and the peak time of neuronal death is P20.
15504897 We show that the b gating mode produces reversible uncoupling of inactivation in human CaV2.1 channels.
15504896 Here, we report the characterization of two modes of gating of human CaV2.1 channels, the slow mode and the fast mode.
15474358 Impaired function of the mutant Ca2+ channels rendered them unable to prevent cell death.
15452324 A heterozygous nt 5404 T>C substitution in exon 33 was associated with co-occurrence of familial hemiplegic migraine and childhood epilepsy.
15448138 Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects.
15362569 Observational study of gene-disease association. (HuGE Navigator)
15293273 This paper identified a novel H1736L missense mutation in the CACNA1A gene associated with the EA2 phenotype. This mutation is localized near the pore-forming region of the P/Q-type Ca2+ channel.
15254089 Concerted splicing of the P/Q channel's main alpha1A subunit, at both an EF-hand-like domain and the channel C terminus, controls the form of Ca2+-dependent facilitation, an activity-dependent enhancement of channel opening triggered by calmodulin.
15240985 This study identified a novel mutation of the CACNA1A gene, Ile1710thr, located in the domain IV-s5.
15223312 The molecular architecture of CAG repeats in mutant SCA6 transcripts was studied.
15210532 CACNA1A gene is not associated with the more common migraine syndromes and is not one of the most common hemiplegic migraine genes.
15026782 These results strongly suggest that ADCA families can be traced back to common ancestors in particular parts of the Netherlands.
15026160 Distribution of CACNA1A haplotypes predisposing to spinocerebellar ataxia type 6 contributes to the geographical differences in prevalence of SCA6 in western Japan.
15003170 Functional analysis of a knockin mouse model of human R192Q pure FHM-1 mutation reveals a pure gain-of-function effect on Ca+ channel current, neurotransmission, and cortical spreading depression.
14756671 Observational study of gene-disease association. (HuGE Navigator)
14681882 Early cerebellar dysfunction in episodic ataxia type 2 results from the intrinsically abnormal properties of the CACNA1A channel rather than a degenerative process.
14592859 This study found that patients with congenital presynaptic failure of neuromuscle transmission and found sililarities with patients withEA-2 due to mutation in cacna1a.
14534930 We report on a family with ataxia type 6 (SCA6) showing peculiar oculomotor symptoms. They carried the identical mutation (the number of expanded CAG repeat, 24) in the CACNA1A gene.
14530926 novel CACNA1A mutation, IVS36-2A>G, at the 3' acceptor splice site of intron 36 was identified by sequencing.
12756131 The T666M mutation is the most frequent CACNA1A mutation in familial hemiplegic migraine
12736095 A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family.
12676347 CACNA1A expressed in embryonic kidney 293T cells produces a 75 kDa C-terminal fragment in which resistance to proteolysis is rendered by an expanded polyglutamine tract, giving it a key role in the pathological mechanism of spinocerebellar ataxia type 6.
12545428 Observational study of gene-disease association. (HuGE Navigator)
12545428 Trinucleotide repeat expansions in this protein are not as common in spinocerebellar ataxia as in SSCA8.
12542511 Machado-Joseph disease and dentatorubral-pallidoluysian atrophy (DRPLA) mutations; SCA6 mutation was most frequently detected.
12527722 R192Q mutation reduces G-protein inhibition of P/Q-type Ca(2+) channels, probably by altering mechanisms by which Gbetagamma subunit binding induces change in channel gating. May contribute to migraine attacks.
12461694 novel SNPs within 25 kb of exon 8, defining the critical region of CACNA1A in predisposing to idiopathic generalized epilepsy
12235360 uncovered two functional effects common to all familial hemiplegic migraine mutations analyzed: increase of single-channel Ca(2+) influx and decrease of maximal Ca(V)2.1 current density in neurons
12056940 Observational study of gene-disease association. (HuGE Navigator)
12049805 Observational study of gene-disease association. (HuGE Navigator)
11971066 first report confirming mutation in CACNA1A gene in familial hemiplegic migraine cases in Japan
11960817 missense and mutations involved in episodic ataxia type 2
11843866 Observational study of gene-disease association. (HuGE Navigator)
11804332 Observational study of genotype prevalence. (HuGE Navigator)
11803518 Observational study of gene-disease association. (HuGE Navigator)
11803518 Did not detect any linkage or association in these groups and conclude that if CACNA1A plays a role in typical migraine, it does not confer a major effect on the disease.
11742003 a pronounced loss of P/Q-type Ca(2+) channel function underlies the pathophysiology of EA-2 and PA. In contrast to other EA-2 mutations, AY1593/1594D and G293R form at least partially functional channels
11320173 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence


Text Mined References (206)

PMID Year Title
26912519 2016 In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2.
26716990 2015 A Single Amino Acid Deletion (?F1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx.
26566276 2015 Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population.
26507659 2015 Molecular Basis of Regulating High Voltage-Activated Calcium Channels by S-Nitrosylation.
26216687 2015 Association study between polymorphisms in the CACNA1A, CACNA1C, and CACNA1H genes and drug-resistant epilepsy in the Chinese Han population.
26063920 2015 Spinocerebellar ataxia type 6 protein aggregates cause deficits in motor learning and cerebellar plasticity.
26002199 2015 The Repeat Expansion Diseases: The dark side of DNA repair.
25954029 2015 DnaJ-1 and karyopherin ?3 suppress degeneration in a new Drosophila model of Spinocerebellar Ataxia Type 6.
25869926 2015 ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America.
25784583 2015 Exercise-induced downbeat nystagmus in a Korean family with a nonsense mutation in CACNA1A.
25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
25706626 2015 A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.
25468264 2015 Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine.
25109669 2014 The first knockin mouse model of episodic ataxia type 2.
24907493 2014 Mechanism underlying unaltered cortical inhibitory synaptic transmission in contrast with enhanced excitatory transmission in CaV2.1 knockin migraine mice.
24842051 2014 The roles of calcium-sensing receptor and calcium channel in osteogenic differentiation of undifferentiated periodontal ligament cells.
24836863 2014 Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.
24658662 2014 Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature.
24486772 2014 A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.
24445160 2014 A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy.
24329154 2014 The inhibition of functional expression of calcium channels by prion protein demonstrates competition with ?2? for GPI-anchoring pathways.
24275721 2014 Genetics of dizziness: cerebellar and vestibular disorders.
24108129 2013 The E1015K variant in the synprint region of the CaV2.1 channel alters channel function and is associated with different migraine phenotypes.
24046065 2013 Novel CACNA1A mutation(s) associated with slow saccade velocities.
23827678 2013 Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6.
23726906 2013 Intrathecal injection of P/Q type voltage-gated calcium channel antibodies from paraneoplastic cerebellar degeneration cause ataxia in mice.
23505410 2013 Cytoplasmic location of ?1A voltage-gated calcium channel C-terminal fragment (Cav2.1-CTF) aggregate is sufficient to cause cell death.
23441182 2013 Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.
23430985 2013 The familial hemiplegic migraine type 1 mutation K1336E affects direct G protein-mediated regulation of neuronal P/Q-type Ca2+ channels.
23407676 2013 Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family.
23344743 2013 Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2.
23255606 2013 Ca2+-independent activation of Ca2+/calmodulin-dependent protein kinase II bound to the C-terminal domain of CaV2.1 calcium channels.
23103419 2013 CACNA1A variants may modify the epileptic phenotype of Dravet syndrome.
22969264 2012 Familial hemiplegic migraine with prolonged coma and cerebellar atrophy: CACNA1A T666M mutation in a Korean family.
22942164 2012 A novel CACNA1A mutation results in episodic ataxia with migrainous features without headache.
22549042 2012 Familial hemiplegic migraine type 1 mutations W1684R and V1696I alter G protein-mediated regulation of Ca(V)2.1 voltage-gated calcium channels.
22190617 2012 Effects of familial hemiplegic migraine type 1 mutation T666M on voltage-gated calcium channel activities in trigeminal ganglion neurons.
22074995 2012 CaV2.1 voltage activated calcium channels and synaptic transmission in familial hemiplegic migraine pathogenesis.
21965686 2011 Molecular determinants of CaV2.1 channel regulation by calcium-binding protein-1.
21827920 2012 Episodic ataxias 1 and 2.
21827907 2012 Spinocerebellar ataxia type 6.
21788606 2011 Functional importance of L- and P/Q-type voltage-gated calcium channels in human renal vasculature.
21768184 2011 Head tremor related to CACNA1A mutations.
21696515 2011 New mutation of CACNA1A gene in episodic ataxia type 2.
21550405 2011 Splice isoform-specific suppression of the Cav2.1 variant underlying spinocerebellar ataxia type 6.
21440913 2011 Dramatically different levels of Cacna1a gene expression between pre-weaning wild type and leaner mice.
21183743 2011 Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.
21078624 2011 Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.
20837964 2010 De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine.
20682717 2010 A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.
20631222 2010 Severe and progressive neurotransmitter release aberrations in familial hemiplegic migraine type 1 Cacna1a S218L knock-in mice.
20495360 CaV2.1 (P/Q channel) interaction with synaptic proteins is essential for depolarization-evoked release.
20484531 2010 Gain of function in FHM-1 Cav2.1 knock-in mice is related to the shape of the action potential.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20156848 2010 Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.
20129625 2010 Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
20091047 2010 Role of voltage-gated calcium channels in epilepsy.
20080591 2010 A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis.
20071244 2010 Sporadic hemiplegic migraine and epilepsy associated with CACNA1A gene mutation.
20069235 2009 Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals.
20043243 2011 Alterations in intracellular calcium ion concentrations in cerebellar granule cells of the CACNA1A mutant mouse, leaner, during postnatal development.
20043227 2010 The carboxy-terminal fragment of alpha(1A) calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells.
19864665 2009 Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood.
19811514 2010 Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation.
19633872 2010 Identification of CACNA1A large deletions in four patients with episodic ataxia.
19624685 2010 Link between confusional migraine, hemiplegic migraine and episodic ataxia type 2: hypothesis, family genealogy, gene typing and classification.
19586927 2009 Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing.
19527141 2009 CACNA1A gene non-synonymous single nucleotide polymorphisms and common migraine in Italy: a case-control association study with a micro-array technology.
19520699 2009 Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation.
19486177 2009 CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2.
19438926 2009 The FHM1 mutation S218L: a severe clinical phenotype? A case report and review of the literature.
19429006 2009 The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility.
19259763 2009 The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study.
19242091 Ca(V)2.1 P/Q-type calcium channel alternative splicing affects the functional impact of familial hemiplegic migraine mutations: implications for calcium channelopathies.
19235102 Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia.
19232643 2009 Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.
19189122 2009 The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibition.
19182766 2009 Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3.
19145126 2008 Periodic alternating nystagmus and periodic alternating skew deviation in spinocerebellar ataxia type 6.
19007941 2009 FHM3 in familial hemiplegic migraine is more resistant to mutation than FHM1 and FHM2.
18976783 2009 Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia.
18973067 2008 Spinocerebellar ataxia type 12 was not found in Korean Parkinsonian patients.
18940563 2008 Stepwise developmental regression associated with novel CACNA1A mutation.
18758887 2008 Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family.
18755274 2008 A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy.
18670797 2008 Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family.
18644040 2008 Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes.
18606230 2008 Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2.
18602318 2009 Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation.
18581134 2008 The S218L familial hemiplegic migraine mutation promotes deinhibition of Ca(v)2.1 calcium channels during direct G-protein regulation.
18541804 2008 Large CACNA1A deletion in a family with episodic ataxia type 2.
18513263 2008 Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients.
18498393 2008 CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
18478327 2009 Cav2.1 voltage-dependent Ca2+ channel current is inhibited by serum from select patients with Guillain-Barré syndrome.
18437043 2008 Progressive cerebellar ataxia with variable episodic symptoms--phenotypic diversity of R1668W CACNA1A mutation.
18413478 2008 Impaired eye movements in presymptomatic spinocerebellar ataxia type 6.
18400181 2008 Crystal structure of the CaV2 IQ domain in complex with Ca2+/calmodulin: high-resolution mechanistic implications for channel regulation by Ca2+.
18400034 2008 CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.
18338196 2008 Axonal function in a family with episodic ataxia type 2 due to a novel mutation.
18313928 2008 Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L mutation.
18285829 2008 Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?
18279427 2008 Expansion of the phenotypic spectrum of the CACNA1A T666M mutation: a family with familial hemiplegic migraine type 1, cerebellar atrophy and mental retardation.
18162541 2008 Modulation of CaV2.1 channels by Ca2+/calmodulin-dependent protein kinase II bound to the C-terminal domain.
18056581 2007 Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine.
17672918 2007 Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.
17654512 2008 Dominant-negative effects of episodic ataxia type 2 mutations involve disruption of membrane trafficking of human P/Q-type Ca2+ channels.
17588611 2007 Early onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop.
17573560 2007 [P/Q-type voltage-dependent calcium channels in neurological disease].
17438119 2007 Elementary mechanisms producing facilitation of Cav2.1 (P/Q-type) channels.
17418573 2007 Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.
17292920 2007 Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop.
17289272 2007 The Kelch-like protein 1 modulates P/Q-type calcium current density.
17119788 2006 Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families.
17020933 2007 Altered frequency-dependent inactivation and steady-state inactivation of polyglutamine-expanded alpha1A in SCA6.
16866717 Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4.
16595610 2006 C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.
16508934 2006 The CACNA1A and ATP1A2 genes are not involved in dominantly inherited migraine with aura.
16389595 2006 CAG repeats in Restless Legs syndrome.
16382099 2005 International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels.
16373336 2006 Endogenous and exogenous Ca2+ buffers differentially modulate Ca2+-dependent inactivation of Ca(v)2.1 Ca2+ channels.
16325861 2006 Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
16306128 2006 Dominant-negative effects of human P/Q-type Ca2+ channel mutations associated with episodic ataxia type 2.
16186543 2005 Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.
16043807 2005 New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.
15985579 2005 CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics.
15827025 2005 Internuclear ophthalmoparesis in episodic ataxia type 2.
15826995 2005 Relative atrophy of the flocculus and ocular motor dysfunction in SCA2 and SCA6.
15795222 2005 Gating deficiency in a familial hemiplegic migraine type 1 mutant P/Q-type calcium channel.
15743764 2005 Specific kinetic alterations of human CaV2.1 calcium channels produced by mutation S218L causing familial hemiplegic migraine and delayed cerebral edema and coma after minor head trauma.
15728831 2005 A protein phosphatase 2calpha-Ca2+ channel complex for dephosphorylation of neuronal Ca2+ channels phosphorylated by protein kinase C.
15710862 2005 Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
15545010 2004 Postnatal apoptosis in cerebellar granule cells of homozygous leaner (tg1a/tg1a) mice.
15504897 2004 Modal gating of human CaV2.1 (P/Q-type) calcium channels: II. the b mode and reversible uncoupling of inactivation.
15504896 2004 Modal gating of human CaV2.1 (P/Q-type) calcium channels: I. The slow and the fast gating modes and their modulation by beta subunits.
15474358 2004 Polyglutamine repeats of spinocerebellar ataxia 6 impair the cell-death-preventing effect of CaV2.1 Ca2+ channel--loss-of-function cellular model of SCA6.
15452324 2004 Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation.
15448138 2004 Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects.
15362569 2004 A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6.
15293273 2004 Functional implications of a novel EA2 mutation in the P/Q-type calcium channel.
15254089 2004 Alternative splicing as a molecular switch for Ca2+/calmodulin-dependent facilitation of P/Q-type Ca2+ channels.
15240985 2004 New CACNA1A gene mutation in a case of familial hemiplegic migraine with status epilepticus.
15223312 2004 Molecular architecture of CAG repeats in human disease related transcripts.
15210532 2004 No mutations in CACNA1A and ATP1A2 in probands with common types of migraine.
15173248 2004 Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2.
15057824 2004 The DNA sequence and biology of human chromosome 19.
15032980 2004 A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine.
15026782 2004 Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations.
15026160 2004 A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in western Japan.
15003170 2004 A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression.
14756671 2004 Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease.
14718690 2004 Clinical spectrum of episodic ataxia type 2.
14681882 2003 Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.
14592859 2003 Effect of inherited abnormalities of calcium regulation on human neuromuscular transmission.
14570872 2004 Calcium-binding protein 1 is an inhibitor of agonist-evoked, inositol 1,4,5-trisphosphate-mediated calcium signaling.
14534930 2003 Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6.
14530926 2004 Novel splice site CACNA1A mutation causing episodic ataxia type 2.
12756131 2003 Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraine.
12736095 2003 A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family.
12707077 2003 Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.
12676347 2003 Proteolytic cleavage and cellular toxicity of the human alpha1A calcium channel in spinocerebellar ataxia type 6.
12545428 2003 SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6.
12542511 2003 Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan.
12527722 2003 The familial hemiplegic migraine mutation R192Q reduces G-protein-mediated inhibition of P/Q-type (Ca(V)2.1) calcium channels expressed in human embryonic kidney cells.
12461694 2002 Haplotype and linkage disequilibrium analysis to characterise a region in the calcium channel gene CACNA1A associated with idiopathic generalised epilepsy.
12451115 2002 Systematic identification of splice variants in human P/Q-type channel alpha1(2.1) subunits: implications for current density and Ca2+-dependent inactivation.
12420090 2002 Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.
12235360 2002 Familial hemiplegic migraine mutations increase Ca(2+) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons.
12056940 2002 Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine.
12049805 2002 Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha(1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy.
11960817 2002 Genetics of familial episodic vertigo and ataxia.
11865310 2002 Differential modulation of Ca(v)2.1 channels by calmodulin and Ca2+-binding protein 1.
11843866 2001 CACNA1A gene polymorphisms in cluster headache.
11804332 2001 Molecular analysis of Spinocerebellar ataxias in Koreans: frequencies and reference ranges of SCA1, SCA2, SCA3, SCA6, and SCA7.
11723274 2001 Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
11439943 2001 The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.
11409427 2001 Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine.
11342703 2001 Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy.
11320173 2001 Involvement of the CACNA1A gene containing region on 19p13 in migraine with and without aura.
11179022 2001 Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.
11176968 2001 Missense CACNA1A mutation causing episodic ataxia type 2.
11061267 2000 CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy.
10987655 1999 Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM.
10753886 2000 Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
10607897 2000 A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome.
10408532 1999 Genetic heterogeneity in Italian families with familial hemiplegic migraine.
10212211 1999 A new beta subtype-specific interaction in alpha1A subunit controls P/Q-type Ca2+ channel activation.
10049321 1999 Structural elements in domain IV that influence biophysical and pharmacological properties of human alpha1A-containing high-voltage-activated calcium channels.
9600739 1998 De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia.
9442082 1998 A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit.
9345107 1997 Progressive ataxia due to a missense mutation in a calcium-channel gene.
9311738 1997 Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1.
9303303 1997 Direct interaction of the calcium sensor protein synaptotagmin I with a cytoplasmic domain of the alpha1A subunit of the P/Q-type calcium channel.
9302278 1997 Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
9259275 1997 SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene.
9238069 1997 Direct interaction of gbetagamma with a C-terminal gbetagamma-binding domain of the Ca2+ channel alpha1 subunit is responsible for channel inhibition by G protein-coupled receptors.
9009193 1997 Direct binding of G-protein betagamma complex to voltage-dependent calcium channels.
8988170 1997 Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
8898206 1996 Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
8825650 1995 Chromosomal localization of the human genes for alpha 1A, alpha 1B, and alpha 1E voltage-dependent Ca2+ channel subunits.
8692999 1996 Isoform-specific interaction of the alpha1A subunits of brain Ca2+ channels with the presynaptic proteins syntaxin and SNAP-25.
8525433 1995 Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain.
8220421 1993 A gene for familial hemiplegic migraine maps to chromosome 19.
7823133 1995 Expression and antibody inhibition of P-type calcium channels in human small-cell lung carcinoma cells.
1370480 1992 Cloning and expression of a cardiac/brain beta subunit of the L-type calcium channel.
1335101 1992 Molecular diversity of neuronal-type calcium channels identified in small cell lung carcinoma.