SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.

ABSTRACT: Background: SCN1A is one of the most common epilepsy genes. About 80% of SCN1A gene mutations cause Dravet syndrome (DS), which is a severe and catastrophic epileptic encephalopathy. More than 1,800 mutations have been identified in SCN1A. Although it is known that SCN1A is the main cause of DS and genetic epilepsy with febrile seizures plus (GEFS+), there is a dearth of information on the other related diseases caused by mutations of SCN1A. Objective: The aim of this study is to systematically review the literature associated with SCN1A and other non-DS-related disorders. Methods: We searched PubMed and SCOPUS for all the published cases related to gene mutations of SCN1A until October 20, 2021. The results reported by

SUBMITTER: Ding J 

PROVIDER: S-EPMC8739186 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature