Condition: SCN8A-related epilepsy with encephalopathy


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.