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.
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.