Property Summary

NCBI Gene PubMed Count 198
PubMed Score 1066.07
PubTator Score 1044.93

Knowledge Summary

Patent (22,628)

TINX Plot

  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

Expression

  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)

PMID Text
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

MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMALYNPIPVRQN      1 - 70
CLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQHLPDDDKTPMSERLDDTEPYF     71 - 140
IGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTGILATVGTEFDLRTLRAVRVLRPLKLVSGIP    141 - 210
SLQVVLKSIMKAMIPLLQIGLLLFFAILIFAIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPART    211 - 280
CPNGTKCQPYWEGPNNGITQFDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFF    281 - 350
MLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDGA    351 - 420
LRRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIRRMVKTQAFY    421 - 490
WTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGLGTRPYFHSSFNCFDCGVII    491 - 560
GSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLRNLVVSLLNSMKSIISLLFLLFLFIVVFAL    561 - 630
LGMQLFGGQFNFDEGTPPTNFDTFPAAIMTVFQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLF    631 - 700
GNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKP    701 - 770
AKSVWEQRTSEMRKQNLLASREALYNEMDPDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSR    771 - 840
AAEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRESDHHAREGS    841 - 910
LEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRAHRRPGEEGPEDKAERRARH    911 - 980
REGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARREDKERRHRRRKENQGSGVPVSGPNLSTTRP    981 - 1050
IQQDLGRQDPPLAEDIDNMKNNKLATAESAAPHGSLGHAGLPQSPAKMGNSTDPGPMLAIPAMATNPQNA   1051 - 1120
ASRRTPNNPGNPSNPGPPKTPENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNA   1121 - 1190
NPDPLPKKEEEKKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIA   1191 - 1260
LAAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVVSGALVAFAF   1261 - 1330
TGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNILIVYMLFMFIFAVVAVQLFK   1331 - 1400
GKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYEFHYDNVLWALLTLFTVSTGEGWPQVLKHSV   1401 - 1470
DATFENQGPSPGYRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAIS   1471 - 1540
AKPLTRHMPQNKQSFQYRMWQFVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFS   1541 - 1610
LECVLKVMAFGILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRI   1611 - 1680
LLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFRTFFQALMLLF   1681 - 1750
RSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRD   1751 - 1820
SSILGPHHLDEYVRVWAEYDPAAWGRMPYLDMYQMLRHMSPPLGLGKKCPARVAYKRLLRMDLPVADDNT   1821 - 1890
VHFNSTLMALIRTALDIKIAKGGADKQQMDAELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAM   1891 - 1960
MIMEYYRQSKAKKLQAMREEQDRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGALMAHESGLKESPS   1961 - 2030
WVTQRAQEMFQKTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAE   2031 - 2100
NQRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSHRASERSLGR   2101 - 2170
YTDVDTGLGTDLSMTTQSGDLPSKERDQERGRPKDRKHRQHHHHHHHHHHPPPPDKDRYAQERPDHGRAR   2171 - 2240
ARDQRWSRSPSEGREHMAHRQGSSSVSGSPAPSTSGTSTPRRGRRQLPQTPSTPRPHVSYSPVIRKAGGS   2241 - 2310
GPPQQQQQQQQQQQAVARPGRAATSGPRRYPGPTAEPLAGDRPPTGGHSSGRSPRMERRVPGPARSESPR   2311 - 2380
ACRHGGARWPASGPHVSEGPPGPRHHGYYRGSDYDEADGPGSGGGEEAMAGAYDAPPPVRHASSGATGRS   2381 - 2450
PRTPRASGPACASPSRHGRRLPNGYYPAHGLARPRGPGSRKGLHEPYSESDDDWC                  2451 - 2505
//

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