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Article

SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.

Brain : a journal of neurology - 1 Dec 2023

van Hugte Eline J H, Lewerissa Elly I, Wu Ka Man, Scheefhals Nicky, Parodi Giulia, van Voorst Torben W, Puvogel Sofia, Kogo Naoki, Keller Jason M, Frega Monica, Schubert Dirk, Schelhaas Helenius J, Verhoeven Judith, Majoie Marian, van Bokhoven Hans, Nadif Kasri Nael

Abstract excerpt

Dravet syndrome is a severe epileptic encephalopathy, characterized by (febrile) seizures, behavioural problems and developmental delay. Eighty per cent of patients with Dravet syndrome have a mutation in SCN1A, encoding Nav1.1. Milder clinical phenotypes, such as GEFS+ (generalized epilepsy with febrile seizures plus), can also arise from SCN1A mutations. Predicting the clinical phenotypic outcome based on the...

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Share to Epilepsies, Myoclonic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37467479
DOI: 10.1093/brain/awad245
PMCID: PMC10689919

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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