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Article

A novel SCN8A variant of unknown significance in pediatric epilepsy: a case report.

The Journal of international medical research - 1 Jul 2023

Bouzroud Wafaa, Tazzite Amal, Boussakri Ikhlass, Gazzaz Bouchaïb, Dehbi Hind

Abstract excerpt

Variants in SCN8A are associated with several diseases, including developmental and epileptic encephalopathy, intermediate epilepsy or mild-to-moderate developmental and epileptic encephalopathy, self-limited familial infantile epilepsy, neurodevelopmental delays with generalized epilepsy, neurodevelopmental disorder without epilepsy, hypotonia, and movement disorders. Herein, we report an 8-year-old Moroccan boy...

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Identifiers

PMID: 37498161
DOI: 10.1177/03000605231187931
PMCID: PMC10387795

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