A structural look at GABAA receptor mutations linked to epilepsy syndromes

被引：62

作者：

Hernandez, Ciria C. ^{[1
]}

Macdonald, Robert L. ^{[2
]}

机构：

[1] Univ Michigan, Inst Life Sci, 210 Washtenaw Ave,Room 6115, Ann Arbor, MI 48109 USA

[2] Vanderbilt Univ, Med Ctr, Dept Neurol, Nashville, TN USA

来源：

BRAIN RESEARCH | 2019年 / 1714卷

关键词：

Genetic epilepsy syndromes; GABA(A) receptors; GABR genes; Missense mutations; De novo mutations; Epileptic encephalopathies; CHILDHOOD ABSENCE EPILEPSY; DE-NOVO MUTATIONS; GENES-ENCODING GABA(A); MAIN CONDUCTANCE STATE; SPINAL-CORD NEURONS; GENERALIZED EPILEPSY; FEBRILE SEIZURES; GABRG2; MUTATION; MOUSE MODEL; MISSENSE MUTATIONS;

D O I：

10.1016/j.brainres.2019.03.004

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Understanding the genetic variation in GABA(A) receptor subunit genes (GABRs), GABRA1-6, GABRB1-3, GABRG1-3 and GABRD, in individuals affected by epilepsy may improve the diagnosis and treatment of epilepsy syndromes through identification of disease-associated variants. However, the lack of functional analysis and validation of many novel and previously reported familial and de novo mutations have made it challenging to address meaningful gene associations with epilepsy syndromes. GABA(A) receptors belong to the Cys-loop receptor family. Even though GABA(A) receptor mutant residues are widespread among different GABRs, their frequent occurrence in important structural domains that share common functional features suggests associations between structure and function.

引用

页码：234 / 247

页数：14

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