Summary On April 21, 2015, the first SCN 8A Encephalopathy Research Group convened in
Washington, DC, to assess current research into clinical and pathogenic features of the …

Objective: SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1. 6). SCN8A
mutations have recently been associated with epilepsy and neurodevelopmental disorders …

De novo mutations of the neuronal sodium channel SCN8A have been identified in
approximately 2% of individuals with epileptic encephalopathy. These missense mutations …

SCN8A, encoding the voltage-gated sodium channel Nav1. 6, was first implicated in
epileptic encephalopathy in 2012 [1]. Since then, approximately 100 cases have been …

SCN8A encephalopathy, or early infantile epileptic encephalopathy 13 (EIEE13), is caused
predominantly by de novo gain-of-function mutations in the voltage-gated Na channel Nav1 …

Objective The early infantile epileptic encephalopathy type 13 (EIEE 13, OMIM# 614558)
results from de novo missense mutations of SCN8A encoding the voltage‐gated sodium …

Background Mutations of SCN8A encoding the neuronal voltage-gated sodium channel
NaV1. 6 are associated with early-infantile epileptic encephalopathy type 13 (EIEE13) and …

Understanding the precise genetic-basis of disease is one of the critical developments in
medicine in the twenty-first century. Genetic testing has revolutionized the diagnosis and …

SCN8A encephalopathy is a severe, early-onset epilepsy disorder resulting from de novo
gain-of-function mutations in the voltage-gated sodium channel Na v 1.6. To identify the …

1. Background SCN8A is one of an increasing number of genes encoding neuronal sodium
channels associated with early-onset epileptic encephalopathies. The SCN8A-encoded …