Key result
In a cohort of 22 patients with SCN1A-related epilepsy, 22 variants were identified including 12 novel mutations, with 72.7% of patients presenting with Dravet syndrome.
Why the study?
The study was conducted to expand the genotypes and phenotypes of SCN1A-related epilepsy.
Population
22 epilepsy patients carrying 22 variants of SCN1A
Design
Retrospective study
Authors
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Adds novel SCN1A variants; extends spectrum but remains hypothesis-generating and should not change practice.
Cohort (n=22)
No
The study expands the known genotypic and phenotypic spectrum of SCN1A-related epilepsy by identifying 12 novel variants and describing rare phenotypes.
Ma et al. (2022) conducted a cohort in SCN1A-related epilepsy (n=22). SCN1A mutations was evaluated. In a cohort of 22 patients with SCN1A-related epilepsy, 22 variants were identified including 12 novel mutations, with 72.7% of patients presenting with Dravet syndrome.
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