![]() Sixteen (15.5 %) were familial cases, 16.5 % had focal cortical dysplasia (FCD). We included 103 SHE patients (M/F:61/42) who underwent NGS. The identified heterozygous variants were classified according to the American College of Medical Genetics and Genomics guidelines. We selected familial and isolated cases diagnosed with clinical/confirmed SHE who underwent genetic analysis by comparable next generation sequencing (NGS) techniques (WES/ multigene epilepsy panel). We systematically investigated a large cohort of SHE patients to estimate the frequency of pathogenic variants in the main genes thus far implicated in this epilepsy syndrome. ![]() This approximate estimate comes from different case-series, each focused on the screening of a single gene. Genetics of Sleep-related Hypermotor Epilepsy (SHE) includes mutations in several genes that cumulatively account for 30 % of families.
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