SCN8A Chromosome 12
Sodium voltage-gated channel alpha subunit 8
Upload your DNA to see your personal genotypes for variants in SCN8A.
What This Gene Does
This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Gene Info
Gene Group
Sodium voltage-gated channel alpha subunits
Locus Type
gene with protein product
Location
12q13.13
Ensembl
ENSG00000196876
Associated Conditions (43)
Early-infantile DEE
Developmental and epileptic encephalopathy
13
Inborn genetic diseases
Seizures
benign familial infantile
5
See cases
SCN8A-related disorder
Cognitive impairment with or without cerebellar ataxia
Complex neurodevelopmental disorder
Febrile seizure (within the age range of 3 months to 6 years)
Global developmental delay
Choreoathetosis
Leukoencephalopathy
Myoclonus
Focal clonic seizure
Seizure
Intellectual disability
Autosomal recessive inheritance
+23 more conditions
Key Variants
RS1037521613
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1057518293
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1057518487
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1057519190
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 13, Developmental and epileptic encephalopathy
Health Risk
RS1057520361
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1057521767
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1060501010
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1064793263
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 13, Seizures
Health Risk
RS1159903256
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS117217073
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 13, Inborn genetic diseases
Health Risk
RS1175986621
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS1198276041
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
All Variants (394)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1938725748 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1941649906 | Health Risk | Pathogenic | — |
| RS1941714399 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1942828530 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 13, Early-infantile DEE |
| RS202151337 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 13, Complex neurodevelopmental disorder |
| RS2138735536 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2138750473 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2138838820 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2138862836 | Health Risk | Pathogenic | Cognitive impairment with or without cerebellar ataxia, Cognitive impairment with or without cerebellar ataxia |
| RS2138863154 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 13, Seizures |
| RS2138868015 | Health Risk | Pathogenic | — |
| RS2138878910 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2138892868 | Health Risk | Pathogenic | — |
| RS2138904272 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 13, Developmental and epileptic encephalopathy |
| RS2138904397 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2138909650 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2138919071 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2138919119 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2138919129 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2138919187 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2138919240 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2138919307 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2540172722 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2540172917 | Health Risk | Pathogenic | — |
| RS2540176622 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2540185916 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2540186185 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2540260284 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 13, Developmental and epileptic encephalopathy |
| RS2540265574 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2540301979 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2540306816 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2540306984 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2540315721 | Health Risk | Pathogenic | — |
| RS2540333855 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2540334634 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 13, Developmental and epileptic encephalopathy |
| RS2540335641 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 13, Developmental and epileptic encephalopathy |
| RS2540335828 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS397514738 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 13, Complex neurodevelopmental disorder |
| RS587777722 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 13, Early-infantile DEE |
| RS587777723 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 13, Early-infantile DEE |
| RS61618583 | Health Risk | Pathogenic | — |
| RS762777153 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS774522197 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS796053214 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS796053216 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 13, Epileptic encephalopathy |
| RS796053217 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 13, SCN8A-related disorder |
| RS796053218 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS796053220 | Health Risk | Pathogenic | Seizures, benign familial infantile, 5 |
| RS796053228 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 13, Epileptic encephalopathy |
| RS796053229 | Health Risk | Pathogenic | Complex neurodevelopmental disorder, Early-infantile DEE, Developmental and epileptic encephalopathy |