Gene: SCN8A

Alternate names for this Gene: BFIS5|CERIII|CIAT|DEE13|EIEE13|MED|MYOCL2|NaCh6|Nav1.6|PN4

Gene Summary: 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.13

Description of this Gene: sodium voltage-gated channel alpha subunit 8

Type of Gene: protein-coding

rs1905248 in SCN8A gene and Amyotrophic Lateral Sclerosis PMID 17362836 2007 Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.

rs1555226081 in SCN8A gene and Dysmorphic features PMID 26677014 2016 Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

PMID 26252990 2016 Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.

PMID 26220391 2015 Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.

PMID 7751906 1995 A novel, abundant sodium channel expressed in neurons and glia.

PMID 9295353 1997 Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells.

PMID 26900580 2016 Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.

PMID 24352161 2014 De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.

PMID 28702509 2017 Loss-of-function variants of SCN8A in intellectual disability without seizures.

PMID 24888894 2014 Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

PMID 25239001 2014 Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.

PMID 25785782 2015 SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.

PMID 25725044 2015 De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.

PMID 25799905 2015 Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 10745221 2000 Developmental and regional expression of sodium channel isoform NaCh6 in the rat central nervous system.

PMID 9828131 1998 Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A.

PMID 27270488 2016 SCN8A encephalopathy: Research progress and prospects.

PMID 24874546 2014 A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 26029160 2015 Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.

PMID 22365152 2012 De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.

PMID 25914188 2015 Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

PMID 16236810 2006 Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

rs1057518487 in SCN8A gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 PMID 29121005 2018 De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy.

PMID 26029160 2015 Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.

PMID 25568300 2015 The phenotypic spectrum of SCN8A encephalopathy.

PMID 25951352 2015 Electroclinical features of epileptic encephalopathy caused by SCN8A mutation.

PMID 24888894 2014 Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

PMID 26647175 2016 Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

PMID 26900580 2016 Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.

PMID 27779742 2017 Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.

PMID 28387369 2017 Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.

rs1555230924 in SCN8A gene and Movement Disorders PMID 26252990 2016 Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.

PMID 10745221 2000 Developmental and regional expression of sodium channel isoform NaCh6 in the rat central nervous system.

PMID 26029160 2015 Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.

PMID 27270488 2016 SCN8A encephalopathy: Research progress and prospects.

PMID 25785782 2015 SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

PMID 9828131 1998 Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A.

PMID 26220391 2015 Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.

PMID 26677014 2016 Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

PMID 25239001 2014 Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.

PMID 22365152 2012 De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 26900580 2016 Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 16236810 2006 Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.

PMID 25725044 2015 De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.

PMID 9295353 1997 Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells.

PMID 7751906 1995 A novel, abundant sodium channel expressed in neurons and glia.

PMID 28702509 2017 Loss-of-function variants of SCN8A in intellectual disability without seizures.

PMID 24888894 2014 Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 24352161 2014 De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.

PMID 24874546 2014 A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.

PMID 25914188 2015 Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

PMID 25799905 2015 Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

rs1555226081 in SCN8A gene and Muscle hypotonia PMID 25785782 2015 SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.

PMID 25725044 2015 De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.

PMID 25239001 2014 Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.

PMID 9295353 1997 Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells.

PMID 26252990 2016 Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.

PMID 27270488 2016 SCN8A encephalopathy: Research progress and prospects.

PMID 26220391 2015 Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.

PMID 26677014 2016 Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

PMID 26029160 2015 Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.

PMID 28702509 2017 Loss-of-function variants of SCN8A in intellectual disability without seizures.

PMID 9828131 1998 Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 26900580 2016 Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.

PMID 25799905 2015 Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation.

PMID 7751906 1995 A novel, abundant sodium channel expressed in neurons and glia.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 24352161 2014 De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 24874546 2014 A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.

PMID 25914188 2015 Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

PMID 16236810 2006 Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.

PMID 24888894 2014 Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

PMID 22365152 2012 De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.

PMID 10745221 2000 Developmental and regional expression of sodium channel isoform NaCh6 in the rat central nervous system.

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

rs202151337 in SCN8A gene and SCN8A-related epilepsy with encephalopathy PMID 22365152 2012 De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.

PMID 25785782 2015 SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PMID 27210545 2016 Autosomal dominant SCN8A mutation with an unusually mild phenotype.

PMID 26900580 2016 Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.

PMID 28923014 2017 SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 25568300 2015 The phenotypic spectrum of SCN8A encephalopathy.

PMID 25725044 2015 De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.

PMID 24888894 2014 Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 24874546 2014 A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.

PMID 25239001 2014 Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.

PMID 24352161 2014 De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.

PMID 26235739 2015 In response: SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 25046240 2015 Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

PMID 12374766 2002 Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6).

PMID 17881658 2007 The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.

PMID 25914188 2015 Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

PMID 25951352 2015 Electroclinical features of epileptic encephalopathy caused by SCN8A mutation.

PMID 24194747 2013 Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 26297079 2016 Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.

PMID 25799905 2015 Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation.

PMID 26235738 2015 SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.

rs587780455 in SCN8A gene and SEIZURES, BENIGN FAMILIAL INFANTILE, 5 PMID 27210545 2016 Autosomal dominant SCN8A mutation with an unusually mild phenotype.

PMID 26677014 2016 Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

PMID 24874546 2014 A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.