Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy
详细信息 查看全文
- 作者：Borislav Dejanovica ; 1 ; Dennis Lalb ; c ; d ; 1 ; Claudia B. Catarinoe ; 1 ; Sita Arjunea ; Abdel A. Belaidia ; Holger Trucksb ; h ; Christian Vollmare ; Rainer Surgesf ; h ; Wolfram S. Kunzf ; h ; Susanne Motamenyb ; Janine Altmü ; llerb ; Anna Kö ; hlera ; Bernd A. Neubauerd ; EPICURE Consortiumh ; 2 ; Peter Nü ; rnbergb ; c ; g ; h ; Soheyl Noachtare ; Gü ; nter Schwarza ; c ; g ; 3 ; gschwarz@uni-koeln.de" class="auth_mail ; Thomas Sanderb ; h ; 3 ; thomas.sander@uni-koeln.de" class="auth_mail
- 关键词：GABAARs ; 纬-aminobutyric acid type-A receptors ; CNVs ; copy number variations ; IGE ; idiopathic generalized epilepsy ; TMS ; transcranial magnetic stimulation ; DTI ; diffusion tensor imaging ; HEK293 ; human embryonic kidney 293 ; TLE ; temporal lobe epilepsy ; qPCR ; quantitative polymerase chain reaction
- 刊名：Neurobiology of Disease
- 出版年：July 2014
- 年：2014
- 卷：67
- 期：Complete
- 页码：88-96
- 全文大小：927 K
文摘
- •
Identification of novel epilepsy-associated exonic (螖2–3 and 螖5–9) GPHN deletions
- •
螖5–9 GPHN impairs oligomerization and clustering of gephyrin at GABAergic synapses.
- •
螖2–3 GPHN leads to a premature stop-codon after exon 1.
- •
Clinically, intra-cortical inhibition was reduced in the 螖5–9 GPHN patient.
- •
GPHN deletions represent a rare genetic risk factor for IGE.