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Identification of Novel and De Novo Mutation in the SCN1A Gene By Exome Sequencing Confirms Dravet Syndrome in Moroccan Child: A Case Report

2023-10-16

Abstract excerpt

Dravet syndrome is a severe form of epilepsy characterised by recurrent seizures and cognitive impairment. It is mainly caused by mutations in the SCN1A gene in 90% of cases, which codes for the α subunit of the voltage-gated sodium channel. In this study, we present one suspected case of Dravet syndrome in Moroccan child that underwent exome analysis and were confirmed by Sanger sequencing. The mutation was ident...

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Literature Corpus work: 7622a152-fbcd-5f70-a901-567e6498a7af
DOI: 10.21203/rs.3.rs-3434319/v1

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