SCN1A Pathogenic Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome.

Ayberk Türkyılmaz,Emine Tekin,Oğuzhan Yaralı,Alper Han Çebi

Epileptic disorders : international epilepsy journal with videotape（2023）

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摘要

This study contributed to the mutation spectrum with the novel variations detected in cases with DS and GEFS+ phenotype. SCN1A genetic analysis can help in determining antiepileptic drugs to be selected or avoided in cases with mutations. The elucidation of the molecular etiology makes it possible to provide the family with effective genetic counseling for future pregnancies.

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