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Article

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

International journal of molecular sciences - 26 Aug 2022

Nwosu Gerald, Reddy Shilpa B, Riordan Heather Rose Mead, Kang Jing-Qiong

Abstract excerpt

Mutations in GABAA 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. Mutations in GABRs, especially in GABRA1, GABRB2, GABRB3, and GABRG2, impair GABAergic signaling and are frequently...

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Identifiers

PMID: 36077081
DOI: 10.3390/ijms23179683
PMCID: PMC9456057

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