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

Résumé fourni par la source

Abstract 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 identified in the SCN1A gene, and is a new mutation that has never been described in the literature. The mutation was found de novo in our case, indicating that it was not inherited from the parents. The mutation, SCN1A c.965-2A > G p.(?), is located at the splice site and results in an unknown modification of the protein. This mutation is considered pathogenic on the basis of previous studies. These results contribute to our knowledge of the SCN1A gene mutations associated with Dravet syndrome and underline the importance of genetic analysis in the diagnosis and confirmation of this disorder. Further studies are needed to better understand the functional consequences of this mutation and its implications for therapeutic strategies in Dravet syndrome.

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