Variable Expression of GABAA Receptor Subunit Gamma 2 Mutation in a Nuclear Family Displaying Developmental and Encephalopathic Phenotype

Mutations in GABA(A) receptor subunit genes (GABRs) are a major etiology for developmental and epileptic encephalopathies (DEEs). This article reports a case of a genetic abnormality in GABRG2 and updates the pathophysiology and treatment development for mutations in DEEs based on recent advances. M...

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Detalles Bibliográficos
Autores principales: Nwosu, Gerald, Reddy, Shilpa B., Riordan, Heather Rose Mead, Kang, Jing-Qiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9456057/
https://www.ncbi.nlm.nih.gov/pubmed/36077081
http://dx.doi.org/10.3390/ijms23179683

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9456057/
https://www.ncbi.nlm.nih.gov/pubmed/36077081
http://dx.doi.org/10.3390/ijms23179683

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