The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits

被引：9

作者：

Ahring, Philip K. ^{[1
]}

Liao, Vivian W. Y. ^{[1
]}

Lin, Susan ^{[1
]}

Absalom, Nathan L. ^{[2
]}

Chebib, Mary ^{[1
]}

Moller, Rikke S. ^{[3
,4
]}

机构：

[1] Univ Sydney, Sydney Pharm Sch, Fac Med & Hlth, Brain & Mind Ctr, Sydney, NSW, Australia

[2] Univ Western Sydney, Sch Sci, Sydney, NSW, Australia

[3] ERN EpiCARE, Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, Dianalund, Denmark

[4] Univ Southern Denmark, Dept Reg Hlth Res, Odense, Denmark

来源：

EPILEPSIA | 2022年 / 63卷 / 09期

基金：

英国医学研究理事会;

关键词：

ALPHA-4-BETA-2-DELTA GABA(A) RECEPTORS; INHIBITION; ACTIVATION; SUBUNITS;

D O I：

10.1111/epi.17358

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：2439 / 2441

页数：3

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