Mutations in GABAA receptor subunits associated with genetic epilepsies

被引：192

作者：

Macdonald, Robert L. ^{[1
,2
,3
]}

Kang, Jing-Qiong ^{[1
]}

Gallagher, Martin J. ^{[1
]}

机构：

[1] Vanderbilt Univ, Dept Neurol, Nashville, TN 37232 USA

[2] Vanderbilt Univ, Dept Mol Physiol & Biophys, Nashville, TN 37232 USA

[3] Vanderbilt Univ, Dept Pharmacol, Nashville, TN 37232 USA

来源：

JOURNAL OF PHYSIOLOGY-LONDON | 2010年 / 588卷 / 11期

关键词：

CHILDHOOD ABSENCE EPILEPSY; FEBRILE SEIZURES PLUS; JUVENILE MYOCLONIC EPILEPSY; GENERALIZED EPILEPSY; ENDOPLASMIC-RETICULUM; SURFACE EXPRESSION; GABRG2; MUTATION; CELL-SURFACE; INHIBITION; GAMMA-2-SUBUNIT;

D O I：

10.1113/jphysiol.2010.186999

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Mutations in inhibitory GABA(A) receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI). These mutations are found in both translated and untranslated gene regions and have been shown to affect the GABA(A) receptors by altering receptor function and/or by impairing receptor biogenesis by multiple mechanisms including reducing subunit mRNA transcription or stability, impairing subunit folding, stability, or oligomerization and by inhibiting receptor trafficking.

引用

页码：1861 / 1869

页数：9

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