Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human.

Qi Zhang, Cynthia Forster-Gibson,Eduard Bercovici,Alexandra Bernardo,Fei Ding,Wangzhen Shen,Katherine Langer,Tonia Rex,Jing-Qiong Kang

Experimental neurology（2023）

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摘要

This study is the first report of haploinsufficiency of two GABR epilepsy genes and visual impairment due to altered axonal myelination and resultant optic nerve atrophy. The study suggests the far-reaching impact of GABR mutations and the translational significance of animal models with the same etiology.

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关键词

GABAA receptors,Epilepsy,Blindness,Copy number variation (CNV),Optic nerve atrophy,Electroencephalography (EEG),Electroretinography (ERG)

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