A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy

A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy

Abstract Objective Heterozygous variants in KCNQ2 or, more rarely, KCNQ3 genes are responsible for early‐onset developmental/epileptic disorders characterized by heterogeneous clinical presentation and course, genetic transmission, and prognosis. While familial forms mostly include benign epilepsies...

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Bibliographic Details
Main Authors: Anna Lauritano, Sebastien Moutton, Elena Longobardi, Frédéric Tran Mau‐Them, Giusy Laudati, Piera Nappi, Maria Virginia Soldovieri, Paolo Ambrosino, Mauro Cataldi, Thibaud Jouan, Daphné Lehalle, Hélène Maurey, Christophe Philippe, Francesco Miceli, Antonio Vitobello, Maurizio Taglialatela
Format: Article
Language:English
Published: Wiley 2019-09-01
Series:Epilepsia Open
Subjects:
early‐onset epileptic encephalopathy
homozygous loss‐of‐function variant
intellectual disability
KCNQ3
next‐generation sequencing
nonsense‐mediated mRNA decay
Online Access:https://doi.org/10.1002/epi4.12353

Internet

https://doi.org/10.1002/epi4.12353

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