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Article

Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy.

Molecular brain - 10 Nov 2019

Bai Yun-Fei, Chiu Michelle, Chan Elizabeth S, Axerio-Cilies Peter, Lu Jie, Huh Linda, Connolly Mary B, Guella Ilaria, Farrer Matthew J, Xu Zhi-Qing David, Liu Lidong, Demos Michelle, Wang Yu Tian

Abstract excerpt

We report the identification of a de novo GABRA1 (R214C) variant in a child with epileptic encephalopathy (EE), describe its functional characterization and pathophysiology, and evaluate its potential therapeutic options. The GABRA1 (R214C) variant was identified using whole exome sequencing, and the pathogenic effect of this mutation was investigated by comparing wild-type (WT) α1 and R214C α1 GABAA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31707987
DOI: 10.1186/s13041-019-0513-9
PMCID: PMC6842544

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