Distinct Functional Alterations and Therapeutic Options of Two Pathological De Novo Variants of the T292 Residue of GABRA1 Identified in Children with Epileptic Encephalopathy and Neurodevelopmental Disorders

Mutations of GABA(A)R have reportedly led to epileptic encephalopathy and neurodevelopmental disorders. We have identified a novel de novo T292S missense variant of GABRA1 from a pediatric patient with grievous global developmental delay but without obvious epileptic activity. This mutation coincide...

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Detalles Bibliográficos
Autores principales: Chen, Wenlin, Ge, Yang, Lu, Jie, Melo, Joshua, So, Yee Wah, Juneja, Romi, Liu, Lidong, Wang, Yu Tian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8911174/
https://www.ncbi.nlm.nih.gov/pubmed/35269865
http://dx.doi.org/10.3390/ijms23052723

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8911174/
https://www.ncbi.nlm.nih.gov/pubmed/35269865
http://dx.doi.org/10.3390/ijms23052723

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