A novel GABRG2 mutation associated with febrile seizures

被引：141

作者：

Audenaert, D.

Schwartz, E.

Claeys, K. G.

Claes, L.

Deprez, L.

Suls, A.

Van Dyck, T.

Lagae, L.

Van Broeckhoven, C.

Macdonald, R. L.

De Jonghe, P.

机构：

[1] Univ Antwerp VIB, Dept Mol Genet, Neurogenet Grp, B-2610 Antwerp, Belgium

[2] Vanderbilt Univ, Med Ctr, Grad Program Neurosci, Nashville, TN USA

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

[4] Univ Antwerp Hosp, Div Neurol, Antwerp, Belgium

[5] Univ Hosp Gasthuisberg, Div Child Neurol, B-3000 Louvain, Belgium

来源：

NEUROLOGY | 2006年 / 67卷 / 04期

关键词：

D O I：

10.1212/01.wnl.0000230145.73496.a2

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations in the gene encoding the gamma 2 subunit of the gamma-aminobutyric acid type A receptor (GABRG2) have been reported to cause childhood absence epilepsy (CAE), febrile seizures (FS), and generalized epilepsy with FS plus (GEFS+). The authors analyzed GABRG2 in 47 unrelated patients with CAE, FS, and GEFS+ and identified a novel mutation that cosegregated with FS. Electrophysiologic studies demonstrated altered current desensitization and reduced benzodiazepine enhancement in mutant receptors.

引用

页码：687 / 690

页数：4

共 10 条

[1] First genetic evidence of GABAA receptor dysfunction in epilepsy:: a mutation in the γ2-subunit gene
Baulac, S
Huberfeld, G
Gourfinkel-An, I
Mitropoulou, G
Beranger, A
Prud'homme, JF
Baulac, M
Brice, A
Bruzzone, R
LeGuern, E
[J]. NATURE GENETICS, 2001, 28 (01) : 46 - 48
[2] Bianchi MT, 2002, J NEUROSCI, V22, P5321
[3] The relative amount of cRNA coding for γ2 subunits affects stimulation by benzodiazepines in GABAA receptors expressed in Xenopus oocytes
Boileau, AJ
Baur, R
Sharkey, LM
Sigel, E
Czajkowski, C
[J]. NEUROPHARMACOLOGY, 2002, 43 (04) : 695 - 700
[4] A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: Report of the ILAE Task Force on Classification and Terminology
Engel, J
[J]. EPILEPSIA, 2001, 42 (06) : 796 - 803
[5] Expression of functional GABA(A) receptors in transfected L929 cells isolated by immunomagnetic bead separation
Greenfield, LJ
Sun, F
Neelands, TR
Burgard, EC
Donnelly, JL
Macdonald, RL
[J]. NEUROPHARMACOLOGY, 1997, 36 (01) : 63 - 73
[6] Truncation of the GABAA-receptor γ2 subunit in a family with generalized epilepsy with febrile seizures plus
Harkin, LA
Bowser, DN
Dibbens, LM
Singh, R
Phillips, F
Wallace, RH
Richards, MC
Williams, DA
Mulley, JC
Berkovic, SF
Scheffer, IE
Petrou, S
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (02) : 530 - 536
[7] The impact of receptor desensitization on fast synaptic transmission
Jones, MV
Westbrook, GL
[J]. TRENDS IN NEUROSCIENCES, 1996, 19 (03) : 96 - 101
[8] The GABAA receptor γ2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of α1β2γ2S receptors in the endoplasmic reticulum
Kang, JQ
Macdonald, RL
[J]. JOURNAL OF NEUROSCIENCE, 2004, 24 (40) : 8672 - 8677
[9] Generalized epilepsy with febrile seizures plus - A genetic disorder with heterogeneous clinical phenotypes
Scheffer, IE
Berkovic, SF
[J]. BRAIN, 1997, 120 : 479 - 490
[10] Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures
Robyn H. Wallace
Carla Marini
Steven Petrou
Louise A. Harkin
David N. Bowser
Rekha G. Panchal
David A. Williams
Grant R. Sutherland
John C. Mulley
Ingrid E. Scheffer
Samuel F. Berkovic
[J]. Nature Genetics, 2001, 28 (1) : 49 - 52

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