Property Summary

NCBI Gene PubMed Count 47
Grant Count 108
R01 Count 77
Funding $10,976,061.38
PubMed Score 279.45
PubTator Score 115.06

Knowledge Summary

Patent (17,384)

TINX Plot

  Disease Relevance (66)

Disease Z-score Confidence
Epilepsy 346 5.087 2.5
Dystonia 77 3.661 1.8
Intellectual disability 573 3.294 1.6
Administration of Local Anesthetic Nerve... 14 
Administration of Regional Anesthesia 7
Anesthesia for cesarean section 8
Ataxia 15
Bipolar disorder in remission 19
COGNITIVE IMPAIRMENT WITH OR WITHOUT CER... 1 
Carcinoma 2,147 1.0
Cerebellar Ataxia 72
Cough 21
Dysuria 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... 1 
Early infantile epileptic encephalopathy... 18 
Epilepsy characterized by intractable co... 28 
Herpesviridae Infections 3
Itching of skin 19
Lennox-Gastaut syndrome 34
Life-Threatening Ventricular Tachycardia 15
Local anesthesia 40
Local anesthesia, by infiltration 14
Localization-related epilepsy 13
Major Nerve Block for Surgery 8
Minor Skin Wound Pain 12
Motor cortex epilepsy 10
Motor neuron disease 39 1.0
Mouth Irritation 12
Partial seizure 15
Postherpetic neuralgia 12
Prevent Minor Bacterial Skin Infection 10
Prevention of Seizures following Cranial... 7 
Regional Anesthesia for Labor Pain 9
Regional Anesthesia for Postoperative Pa... 9 
Regional Anesthesia for Surgery 9
Seizures in Neurosurgery 7
Simple partial seizure 26
Skin irritation 12
Sore throat symptom 12
Status Epilepticus 85
Suppression of the Gag Reflex 12
Tinea Infections 10
Tinea corporis 25
Tinea pedis 30
Tonic-clonic epilepsy 47
Tonic-clonic seizure 11
Tremor 8
Urinary Tract Irritation 24
Ventricular arrhythmia 14
adult high grade glioma 2,148
astrocytic glioma 2,241
atypical teratoid / rhabdoid tumor 4,369
glioblastoma 5,572
intraductal papillary-mucinous adenoma (... 2,956 
lung carcinoma 2,844
malignant mesothelioma 3,162
medulloblastoma 1,524
medulloblastoma, large-cell 6,234
nervous system disorder 53
oligodendroglioma 2,849
pilocytic astrocytoma 3,086
posterior fossa group A ependymoma 1,511
primary pancreatic ductal adenocarcinoma 1,271
primitive neuroectodermal tumor 3,031
psoriasis 6,685
subependymal giant cell astrocytoma 2,287

Expression

Synonym

Accession Q9UQD0 B9VWG8 O95788 Q9NYX2 Q9UPB2
Symbols MED
PN4
CIAT
BFIS5
NaCh6
CERIII
EIEE13
Nav1.6

Gene

Gene RIF (33)

PMID Text
26974309 the calpain-dependent cleavage of Nav1.6 channels expressed in human embryonic kidney (HEK) 293 cells caused the upregulation of I(NaP)
26677014 Our study establishes SCN8A as a novel gene in which a recurrent mutation causes BFIS/ICCA, expanding the clinical-genetic spectrum of combined epileptic and dyskinetic syndromes.
26182346 Human Nav1.6 channels generate larger resurgent currents than human Nav1.1 channels, but the SCN4B-derived Navbeta4 peptide does not protect either isoform from use-dependent reduction.
25818041 Epileptic encephalopathy related to mutations in the SCN8A genes.
25804238 Expression profiling of SCN8A and NDUFC2 genes in colorectal carcinoma is reported. There was no NDUFC2 differential expression in colorectal carcinoma.
25785782 The results of this study suggested that SCN8A mutation cause early onset epilepsy and intellectual disability.
25725044 These data strengthen previous findings linking gain-of-function mutations of SCN8A with EIEE and demonstrate the importance of functional testing in establishing the pathogenicity of de novo mutations.
25659151 identified the PI3K/Akt pathway, the cell-cycle regulator Wee1 kinase, and protein kinase C (PKC) as prospective regulatory nodes of neuronal excitability through modulation of the FGF14:Nav1.6 complex.
25568300 SCN8A encephalopathy presents in infancy with multiple seizure types.
24888894 SCN8A mutations can cause variable phenotypes, most of which can be diagnosed as unclassified early onset epileptic encephalopathies, and rarely as malignant migrating partial seizures in infancy.
More...

AA Sequence

MAARLLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLEAGKSLPFIYG      1 - 70
DIPQGLVAVPLEDFDPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNLIRRIAIKILIHSVFSMIIMC     71 - 140
TILTNCVFMTFSNPPDWSKNVEYTFTGIYTFESLVKIIARGFCIDGFTFLRDPWNWLDFSVIMMAYITEF    141 - 210
VNLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNK    211 - 280
CVVWPINFNESYLENGTKGFDWEEYINNKTNFYTVPGMLEPLLCGNSSDAGQCPEGYQCMKAGRNPNYGY    281 - 350
TSFDTFSWAFLALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQA    351 - 420
TLEEAEQKEAEFKAMLEQLKKQQEEAQAAAMATSAGTVSEDAIEEEGEEGGGSPRSSSEISKLSSKSAKE    421 - 490
RRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDNRIGRKFSIMNQSLLSIPGSPFLSRHN    491 - 560
SKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDSLFIPIRARERRSSYSGYSGYSQGSRSSRIF    561 - 630
PSLRRSVKRNSTVDCNGVVSLIGGPGSHIGGRLLPEATTEVEIKKKGPGSLLVSMDQLASYGRKDRINSI    631 - 700
MSVVTNTLVEELEESQRKCPPCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFM    701 - 770
AMEHHPMTPQFEHVLAVGNLVFTGIFTAEMFLKLIAMDPYYYFQEGWNIFDGFIVSLSLMELSLADVEGL    771 - 840
SVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKINQ    841 - 910
DCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLIVFMMVMVIGNLVVLNLFLALLLSSF    911 - 980
SADNLAATDDDGEMNNLQISVIRIKKGVAWTKLKVHAFMQAHFKQREADEVKPLDELYEKKANCIANHTG    981 - 1050
ADIHRNGDFQKNGNGTTSGIGSSVEKYIIDEDHMSFINNPNLTVRVPIAVGESDFENLNTEDVSSESDPE   1051 - 1120
GSKDKLDDTSSSEGSTIDIKPEVEEVPVEQPEEYLDPDACFTEGCVQRFKCCQVNIEEGLGKSWWILRKT   1121 - 1190
CFLIVEHNWFETFIIFMILLSSGALAFEDIYIEQRKTIRTILEYADKVFTYIFILEMLLKWTAYGFVKFF   1191 - 1260
TNAWCWLDFLIVAVSLVSLIANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALVGAIPSIMNV   1261 - 1330
LLVCLIFWLIFSIMGVNLFAGKYHYCFNETSEIRFEIEDVNNKTECEKLMEGNNTEIRWKNVKINFDNVG   1331 - 1400
AGYLALLQVATFKGWMDIMYAAVDSRKPDEQPKYEDNIYMYIYFVIFIIFGSFFTLNLFIGVIIDNFNQQ   1401 - 1470
KKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPLNKIQGIVFDFVTQQAFDIVIMMLICLNMVTMM   1471 - 1540
VETDTQSKQMENILYWINLVFVIFFTCECVLKMFALRHYYFTIGWNIFDFVVVILSIVGMFLADIIEKYF   1541 - 1610
VSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIFSIFGMSNFAYVKHEA   1611 - 1680
GIDDMFNFETFGNSMICLFQITTSAGWDGLLLPILNRPPDCSLDKEHPGSGFKGDCGNPSVGIFFFVSYI   1681 - 1750
IISFLIVVNMYIAIILENFSVATEESADPLSEDDFETFYEIWEKFDPDATQFIEYCKLADFADALEHPLR   1751 - 1820
VPKPNTIELIAMDLPMVSGDRIHCLDILFAFTKRVLGDSGELDILRQQMEERFVASNPSKVSYEPITTTL   1821 - 1890
RRKQEEVSAVVLQRAYRGHLARRGFICKKTTSNKLENGGTHREKKESTPSTASLPSYDSVTKPEKEKQQR   1891 - 1960
AEEGRRERAKRQKEVRESKC                                                     1961 - 1980
//

Text Mined References (50)

PMID Year Title
27210545 2016 Autosomal dominant SCN8A mutation with an unusually mild phenotype.
26974309 2016 Cleavage of Na(+) channels by calpain increases persistent Na(+) current and promotes spasticity after spinal cord injury.
26900580 2016 Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
26677014 2016 Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
26182346 2015 Human Nav1.6 Channels Generate Larger Resurgent Currents than Human Nav1.1 Channels, but the Nav?4 Peptide Does Not Protect Either Isoform from Use-Dependent Reduction.
25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25804238 2015 Expression profiling of SCN8A and NDUFC2 genes in colorectal carcinoma.
25785782 2015 SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
25725044 2015 De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
25659151 2015 Identifying a kinase network regulating FGF14:Nav1.6 complex assembly using split-luciferase complementation.
More...