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ยฉ 2026 GeneE
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GeneE
10 sources retrieved ยท Most recent: April 2026 ยท Index updated 14 days ago
โ“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SCN8A
sodium voltage-gated channel alpha subunit 8
Chromosome 12 ยท 12q13.13
NCBI Gene: 6334Ensembl: ENSG00000196876.19HGNC: HGNC:10596UniProt: A0A590UK43
110PubMed Papers
24Diseases
75Drugs
364Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedIon ChannelTransporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
โœ“ Experimental GO Evidenceโœ“ Swiss-Prot Reviewed
action potentialvoltage-gated sodium channel complexvoltage-gated sodium channel activityprotein bindingdevelopmental and epileptic encephalopathy, 13seizures, benign familial infantile, 5Seizurecognitive impairment with or without cerebellar ataxia
โœฆAI Summary

SCN8A encodes Nav1.6, a voltage-gated sodium channel alpha subunit primarily expressed in neuronal tissues that mediates sodium ion transport and action potential generation 1. The channel plays critical roles in axonal function, including localization to nodes of Ranvier and the axon initial segment, where it controls membrane depolarization during action potentials 1. SCN8A mutations cause a spectrum of neurodevelopmental and epilepsy disorders with clear genotype-phenotype correlations. Gain-of-function missense variants cause focal or multifocal seizures with early onset (median 4 months), ranging from benign familial infantile epilepsy with normal cognition to severe developmental and epileptic encephalopathy with profound intellectual disability and pharmacoresistance 2. Conversely, loss-of-function variants predominantly cause generalized epilepsy with absence seizures and later onset (median 42 months) 2. The severity of electrophysiological dysfunction correlates with clinical severity in gain-of-function cases 2. Patients with gain-of-function variants respond significantly better to sodium channel blockers than other antiepileptic drugs, supporting precision medicine approaches 32. Emerging therapeutic strategies include antisense oligonucleotides that reduce SCN8A mRNA abundance in mouse models of developmental and epileptic encephalopathy 4.

Sources cited
1
SCN8A encodes voltage-gated sodium channel Nav1.6 and mutations cause significant neurological disease; reviews sodium channel function and localization
PMID: 33531663
2
Detailed genotype-phenotype correlations in 392 SCN8A patients showing gain-of-function variants cause focal seizures with early onset and good response to sodium channel blockers, while loss-of-function variants cause generalized epilepsy with absence seizures
PMID: 34431999
3
SCN8A gain-of-function mutations are examples of precision medicine in epilepsy with targeted therapeutic approaches
PMID: 28212175
4
Antisense oligonucleotides that reduce SCN8A mRNA abundance are therapeutic in mouse models of developmental and epileptic encephalopathy
PMID: 34412058
5
De novo SCN8A mutations in ~2% of epileptic encephalopathy cases are missense mutations that increase neuronal hyperexcitability; loss-of-function mutations associate with intellectual disability
PMID: 31904118
6
SCN8A gain-of-function variants present with early onset seizures (<3 months) and demonstrate good response to sodium channel blockers
PMID: 32090326
7
Scn8a mutant mice model generalized epilepsy with absence seizures, demonstrating activity-dependent myelination contributes to epilepsy progression
PMID: 35501379
8
SCN8A variants identified in epilepsy and neurodevelopmental disorder testing are predominantly de novo pathogenic variants
PMID: 29655203
Disease Associationsโ“˜24
developmental and epileptic encephalopathy, 13Open Targets
0.84Strong
seizures, benign familial infantile, 5Open Targets
0.77Strong
SeizureOpen Targets
0.74Strong
cognitive impairment with or without cerebellar ataxiaOpen Targets
0.73Strong
epilepsyOpen Targets
0.72Strong
partial epilepsyOpen Targets
0.66Moderate
complex neurodevelopmental disorderOpen Targets
0.64Moderate
bipolar disorderOpen Targets
0.61Moderate
PainOpen Targets
0.61Moderate
major depressive disorderOpen Targets
0.60Moderate
migraine disorderOpen Targets
0.60Moderate
PruritusOpen Targets
0.60Moderate
amyotrophic lateral sclerosisOpen Targets
0.59Moderate
genetic developmental and epileptic encephalopathyOpen Targets
0.59Moderate
cardiac arrhythmiaOpen Targets
0.59Moderate
trigeminal neuralgiaOpen Targets
0.58Moderate
Familial cortical myoclonusOpen Targets
0.58Moderate
hemorrhoidOpen Targets
0.58Moderate
Back painOpen Targets
0.58Moderate
atrial fibrillationOpen Targets
0.58Moderate
Cognitive impairment with or without cerebellar ataxiaUniProt
Developmental and epileptic encephalopathy 13UniProt
Myoclonus, familial, 2UniProt
Seizures, benign familial infantile, 5UniProt
Pathogenic Variants364
NM_001330260.2(SCN8A):c.3652G>A (p.Glu1218Lys)Pathogenic
COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA|not provided|Early-infantile DEE|Complex neurodevelopmental disorder
โ˜…โ˜…โ˜…โ˜†2025โ†’ Residue 1218
NM_001330260.2(SCN8A):c.2534C>T (p.Ser845Phe)Likely pathogenic
not provided|Developmental and epileptic encephalopathy, 13|Early-infantile DEE|Complex neurodevelopmental disorder
โ˜…โ˜…โ˜…โ˜†2025โ†’ Residue 845
NM_001330260.2(SCN8A):c.2534C>G (p.Ser845Cys)Likely pathogenic
Complex neurodevelopmental disorder|Early-infantile DEE
โ˜…โ˜…โ˜…โ˜†2025โ†’ Residue 845
NM_001330260.2(SCN8A):c.4892T>C (p.Ile1631Thr)Likely pathogenic
Autism;Seizure;Intellectual disability|Complex neurodevelopmental disorder|Early-infantile DEE
โ˜…โ˜…โ˜…โ˜†2025โ†’ Residue 1631
NM_001330260.2(SCN8A):c.1201T>C (p.Tyr401His)Likely pathogenic
Inborn genetic diseases|Early-infantile DEE|Complex neurodevelopmental disorder
โ˜…โ˜…โ˜…โ˜†2025โ†’ Residue 401
NM_001330260.2(SCN8A):c.2533T>C (p.Ser845Pro)Likely pathogenic
not provided|Complex neurodevelopmental disorder
โ˜…โ˜…โ˜…โ˜†2025โ†’ Residue 845
NM_014191.4(SCN8A):c.615-1G>APathogenic
not provided|Complex neurodevelopmental disorder|Early-infantile DEE
โ˜…โ˜…โ˜…โ˜†2025
NM_001330260.2(SCN8A):c.3953A>G (p.Asn1318Ser)Likely pathogenic
Developmental and epileptic encephalopathy, 13|not provided|Complex neurodevelopmental disorder
โ˜…โ˜…โ˜…โ˜†2024โ†’ Residue 1318
NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln)Pathogenic
Developmental and epileptic encephalopathy, 13|not provided|Complex neurodevelopmental disorder|Seizures, benign familial infantile, 5;Developmental and epileptic encephalopathy, 13;Myoclonus, familial, 2;Cognitive impairment with or without cerebellar ataxia|Early-infantile DEE
โ˜…โ˜…โ˜…โ˜†2024โ†’ Residue 1872
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)Pathogenic
Developmental and epileptic encephalopathy, 13|not provided|Epileptic encephalopathy|See cases|Seizures, benign familial infantile, 5|Complex neurodevelopmental disorder|Early-infantile DEE
โ˜…โ˜…โ˜†โ˜†2026โ†’ Residue 1872
NM_001330260.2(SCN8A):c.4880T>C (p.Ile1627Thr)Likely pathogenic
Seizures, benign familial infantile, 5|Early-infantile DEE
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 1627
NM_001330260.2(SCN8A):c.4876C>T (p.Arg1626Cys)Pathogenic
Cognitive impairment with or without cerebellar ataxia|not provided|Inborn genetic diseases|Early-infantile DEE
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 1626
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)Pathogenic
Developmental and epileptic encephalopathy, 13|not provided|Inborn genetic diseases|Seizures, benign familial infantile, 5;Cognitive impairment with or without cerebellar ataxia;Developmental and epileptic encephalopathy, 13|Cognitive impairment with or without cerebellar ataxia|West syndrome|Complex neurodevelopmental disorder|Early-infantile DEE
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 850
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser)Pathogenic
Developmental and epileptic encephalopathy, 13|Inborn genetic diseases|not provided|Complex neurodevelopmental disorder|Early-infantile DEE
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 1451
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val)Pathogenic
Seizures, benign familial infantile, 5|not provided|SCN8A-related disorder|Developmental and epileptic encephalopathy, 13|Early-infantile DEE
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 142
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln)Pathogenic
Developmental and epileptic encephalopathy, 13|not provided|developmental delay with seizures|Inborn genetic diseases|Complex neurodevelopmental disorder|Early-infantile DEE
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 1617
NM_001330260.2(SCN8A):c.4501C>T (p.Gln1501Ter)Pathogenic
Intellectual disability;Seizure|not provided
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 1501
NM_001330260.2(SCN8A):c.800T>C (p.Leu267Ser)Pathogenic
6 conditions|not provided|Early-infantile DEE
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 267
NM_001330260.2(SCN8A):c.2675T>C (p.Val892Ala)Pathogenic
not provided|Early-infantile DEE
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 892
NM_001330260.2(SCN8A):c.4393G>A (p.Asp1465Asn)Pathogenic
See cases|Early-infantile DEE
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 1465
View on ClinVar โ†—
Drug Targets75
ARTICAINEApproved
Sodium channel alpha subunit blocker
ARTICAINE HYDROCHLORIDEApproved
Sodium channel alpha subunit blocker
BENOXINATEApproved
Sodium channel alpha subunit blocker
Pruritus
BENOXINATE HYDROCHLORIDEPhase III
Sodium channel alpha subunit blocker
CARBAMAZEPINEApproved
Sodium channel alpha subunit blocker
epilepsy
CENOBAMATEApproved
Sodium channel alpha subunit inhibitor
Seizure
CHLOROPROCAINEApproved
Sodium channel alpha subunit blocker
CHLOROPROCAINE HYDROCHLORIDEPhase III
Sodium channel alpha subunit blocker
COCAINEApproved
Sodium channel alpha subunit blocker
COCAINE HYDROCHLORIDEApproved
Sodium channel alpha subunit blocker
DISOPYRAMIDEApproved
Sodium channel alpha subunit blocker
cardiac arrhythmia
DISOPYRAMIDE PHOSPHATEApproved
Sodium channel alpha subunit blocker
Ventricular arrhythmia
DRONEDARONEApproved
Sodium channel alpha subunit blocker
cardiac arrhythmia
DRONEDARONE HYDROCHLORIDEApproved
Sodium channel alpha subunit blocker
atrial fibrillation
DYCLONINEApproved
Sodium channel alpha subunit blocker
Pain
DYCLONINE HYDROCHLORIDEUNKNOWN
Sodium channel alpha subunit blocker
ENCAINIDEApproved
Sodium channel alpha subunit blocker
cardiac arrhythmia
ENCAINIDE HYDROCHLORIDEUNKNOWN
Sodium channel alpha subunit blocker
ESLICARBAZEPINEApproved
Sodium channel alpha subunit blocker
epilepsy
ESLICARBAZEPINE ACETATEApproved
Sodium channel alpha subunit blocker
Seizure
ETHOTOINApproved
Sodium channel alpha subunit blocker
Seizure
ETIDOCAINEApproved
Sodium channel alpha subunit blocker
Pain
EVENAMIDEPhase III
Sodium channel alpha subunit blocker
treatment refractory schizophrenia
FOSPHENYTOINApproved
Sodium channel alpha subunit blocker
epilepsy
FOSPHENYTOIN SODIUMApproved
Sodium channel alpha subunit blocker
HEXYLCAINEApproved
Sodium channel alpha subunit blocker
INDECAINIDEApproved
Sodium channel alpha subunit blocker
IRAMPANELPhase I
Glutamate receptor ionotropic AMPA antagonist
LACOSAMIDEApproved
Sodium channel alpha subunit blocker
epilepsy
LAMOTRIGINEApproved
Sodium channel alpha subunit blocker
epilepsy
LIDOCAINEApproved
Sodium channel alpha subunit blocker
premature ejaculation
LIDOCAINE HYDROCHLORIDEApproved
Sodium channel alpha subunit blocker
Pain
MEPHENYTOINApproved
Sodium channel alpha subunit blocker
epilepsy
MEPIVACAINEApproved
Sodium channel alpha subunit blocker
pain agnosia
MEPIVACAINE HYDROCHLORIDEPhase III
Sodium channel alpha subunit blocker
MEXILETINEApproved
Sodium channel alpha subunit blocker
cardiac arrhythmia
MEXILETINE HYDROCHLORIDEApproved
Sodium channel alpha subunit blocker
Ventricular arrhythmia
MORICIZINEApproved
Sodium channel alpha subunit blocker
cardiac arrhythmia
NERISPIRDINEPhase II
Voltage-gated potassium channel blocker
multiple sclerosis
NKTR-171IND
Sodium channel alpha subunit blocker
neuropathic pain
ORPHENADRINEApproved
Glutamate [NMDA] receptor antagonist
Parkinson disease
ORPHENADRINE CITRATEApproved
Glutamate [NMDA] receptor antagonist
Pain
ORPHENADRINE HYDROCHLORIDEApproved
Histamine H1 receptor antagonist
Parkinson disease
OXCARBAZEPINEApproved
Sodium channel alpha subunit blocker
epilepsy
PHENACEMIDEApproved
Sodium channel alpha subunit blocker
epilepsy
PHENAZOPYRIDINEApproved
Sodium channel alpha subunit blocker
Pain
PHENAZOPYRIDINE HYDROCHLORIDEPhase III
Sodium channel alpha subunit blocker
urinary tract infection
PHENYTOINApproved
Sodium channel alpha subunit blocker
epilepsy
PHENYTOIN SODIUMApproved
Sodium channel alpha subunit blocker
epilepsy
PRILOCAINEApproved
Sodium channel alpha subunit blocker
Pain
PRILOCAINE HYDROCHLORIDEUNKNOWN
Sodium channel alpha subunit blocker
PRIMIDONEApproved
GABA-A receptor; anion channel positive allosteric modulator
epilepsy
PROCAINAMIDEApproved
Sodium channel alpha subunit blocker
cardiac arrhythmia
PROCAINAMIDE HYDROCHLORIDEApproved
Sodium channel alpha subunit blocker
PROCAINEApproved
Sodium channel alpha subunit blocker
hemorrhoid
PROCAINE HYDROCHLORIDEPhase II
Sodium channel alpha subunit blocker
HIV infection
PROPAFENONEApproved
Beta-1 adrenergic receptor antagonist
cardiac arrhythmia
PROPAFENONE HYDROCHLORIDEApproved
Beta-1 adrenergic receptor antagonist
PROPARACAINEApproved
Sodium channel alpha subunit blocker
PROPARACAINE HYDROCHLORIDEUNKNOWN
Sodium channel alpha subunit blocker
PROPOXYCAINEApproved
Sodium channel alpha subunit blocker
Pain
QUINIDINEApproved
Sodium channel alpha subunit blocker
cardiac arrhythmia
QUINIDINE GLUCONATEApproved
Sodium channel alpha subunit blocker
QUINIDINE SULFATEApproved
Sodium channel alpha subunit blocker
RALFINAMIDEPhase III
Glutamate [NMDA] receptor antagonist
neuropathic pain
RILUZOLEApproved
Sodium channel alpha subunit blocker
amyotrophic lateral sclerosis
ROPIVACAINEApproved
Sodium channel alpha subunit blocker
ROPIVACAINE HYDROCHLORIDEApproved
Sodium channel alpha subunit blocker
Pain
RUFINAMIDEApproved
Sodium channel alpha subunit blocker
TETRACAINEApproved
Sodium channel alpha subunit blocker
Pain
TETRACAINE HYDROCHLORIDEPhase III
Sodium channel alpha subunit blocker
TOCAINIDEApproved
Sodium channel alpha subunit blocker
cardiac arrhythmia
TOPIRAMATEApproved
Glutamate receptor ionotropic AMPA antagonist
epilepsy
ZANDATRIGINEPhase II
Sodium channel protein type VIII alpha subunit inhibitor
Epileptic encephalopathy
ZONISAMIDEApproved
Sodium channel alpha subunit blocker
epilepsy
Related Genes
NFASCProtein interaction100%SPTAN1Protein interaction97%FGF14Protein interaction96%ANK2Protein interaction96%ANK3Protein interaction96%KCNQ3Protein interaction96%
Tissue Expression6 tissues
Brain
100%
Liver
40%
Bone Marrow
30%
Ovary
6%
Heart
2%
Lung
1%
Gene Interaction Network
Click a node to explore
SCN8ANFASCSPTAN1FGF14ANK2ANK3KCNQ3
PROTEIN STRUCTURE
Preparing viewerโ€ฆ
PDB8FHD ยท 3.10 ร… ยท EM
View on RCSB โ†—
Constraintโ“˜
LOEUFโ“˜
0.19Highly Constrained
pLIโ“˜
1.00Intolerant
Observed/Expected LoF0.13 [0.09โ€“0.19]
RankingsWhere SCN8A stands among ~20K protein-coding genes
  • #4,331of 20,598
    Most Researched110 ยท top quartile
  • #21of 1,025
    FDA-Approved Drug Targets59 ยท top 5%
  • #157of 5,498
    Most Pathogenic Variants364 ยท top 5%
  • #388of 17,882
    Most Constrained (LOEUF)0.19 ยท top 5%
Genes detectedSCN8A
Sources retrieved10 papers
Response timeโ€”
๐Ÿ“„ Sources
10โ–ผ
1
Advances in epilepsy gene discovery and implications for epilepsy diagnosis and treatment.
PMID: 28212175
Curr Opin Neurol ยท 2017
1.00
2
Sodium channelopathies in neurodevelopmental disorders.
PMID: 33531663
Nat Rev Neurosci ยท 2021
0.90
3
Antisense Oligonucleotide Therapy for Neurodevelopmental Disorders.
PMID: 34412058
Dev Neurosci ยท 2021
0.80
4
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
PMID: 34431999
Brain ยท 2022
0.70
5
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.
PMID: 29655203
Epilepsia ยท 2018
0.60