Autism Spectrum Disorder and a De Novo Kcnq2 Gene Mutation: A Case Report

Autism Spectrum Disorder and a De Novo Kcnq2 Gene Mutation: A Case Report

The KCNQ2 gene, encoding for the K<sub>v</sub>7.2 subunits of the K<sub>v</sub>7 voltage potassium channel, is involved in the modulation of neuronal excitability and plays a crucial role in brain morphogenesis and maturation during embryonic life. De novo heterozygous mutati...

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Bibliographic Details
Main Authors: Martina Siracusano, Claudia Marcovecchio, Assia Riccioni, Caterina Dante, Luigi Mazzone
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:Pediatric Reports
Subjects:
autism
neuropsychological phenotype
development
social behavior
KCNQ2
epilepsy
Online Access:https://www.mdpi.com/2036-7503/14/2/27

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