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Article

De novo SCN3A missense variant associated with self-limiting generalized epilepsy with fever sensitivity.

European journal of medical genetics - 1 Oct 2022

Johannesen Katrine M, Gardella Elena, Ahring Philip K, Møller Rikke S

Abstract excerpt

OBJECTIVE: Although the number of affected individuals is relatively low, pathogenic SCN3A variants have been reported in a range of phenotypes, from focal epilepsy to severe developmental and epileptic encephalopathy with polymicrogyria. METHODS: Case report and inclusion of current literature. RESULTS: Here, we report a normally developed boy with self-limiting generalized epilepsy with fever sensitivity due to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35918039
DOI: 10.1016/j.ejmg.2022.104577

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