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Article

De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes.

Journal of medical genetics - 1 Nov 2021

Jaber Dana, Gitiaux Cyril, Blesson Sophie, Marguet Florent, Buard David, Varela Salgado Maritzaida, Kaminska Anna, Saada Julien, Fallet-Bianco Catherine, Martinovic Jelena, Laquerriere Annie, Melki Judith

Abstract excerpt

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is the direct consequence of reduced fetal movements. AMC includes a large spectrum of diseases which result from variants in genes encoding components required for the formation or the function of the neuromuscular system. AMC may also result from central nervous involvement. SCN1A encodes Nav1.1, a critical component of voltage-dependent sodium channels which...

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Identifiers

PMID: 32928894
DOI: 10.1136/jmedgenet-2020-107166
PMCID: PMC8551978

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