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

CONCLUSIONS: 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.PMID:37703949 | DOI:10.1016/j.expneurol.2023.114537

Source: Experimental Neurology - September 13, 2023 Category: Neurology Authors: Qi Zhang Cynthia Forster-Gibson Eduard Bercovici Alexandra Bernardo Fei Ding Wangzhen Shen Katherine Langer Tonia Rex Jing-Qiong Kang Source Type: research