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

The KCNQ2 gene, encoding for the K(v)7.2 subunits of the K(v)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 mutations in KCNQ2 genes are associated with ear...

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Detalles Bibliográficos
Autores principales: Siracusano, Martina, Marcovecchio, Claudia, Riccioni, Assia, Dante, Caterina, Mazzone, Luigi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149837/
https://www.ncbi.nlm.nih.gov/pubmed/35645364
http://dx.doi.org/10.3390/pediatric14020027

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149837/
https://www.ncbi.nlm.nih.gov/pubmed/35645364
http://dx.doi.org/10.3390/pediatric14020027

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