GABAA receptor heterogeneity, function, and implications for epilepsy

被引：56

作者：

Benarroch, Eduardo E. ^{[1
]}

机构：

[1] Mayo Clin & Mayo Fdn, Dept Neurol, Rochester, MN 55905 USA

来源：

NEUROLOGY | 2007年 / 68卷 / 08期

关键词：

D O I：

10.1212/01.wnl.0000255669.83468.dd

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：612 / 614

页数：3

共 21 条

[1] Genes and loci involved in febrile seizures and related epilepsy syndromes [J].

Audenaert, D ;

Van Broeckhoven, C ;

De Jonghe, P .

HUMAN MUTATION, 2006, 27 (05) :391-401

[2] A novel GABRG2 mutation associated with febrile seizures [J].

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. .

NEUROLOGY, 2006, 67 (04) :687-690

[3] Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [γ2(R43Q)] found in human epilepsy [J].

Bowser, DN ;

Wagner, DA ;

Czajkowski, C ;

Cromer, BA ;

Parker, MW ;

Wallace, RH ;

Harkin, LA ;

Mulley, JC ;

Marini, C ;

Berkovic, SF ;

Williams, DA ;

Jones, MV ;

Petrou, S .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2002, 99 (23) :15170-15175

[4] GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies [J].

Dibbens, LM ;

Feng, HJ ;

Harkin, LA ;

Hodgson, BL ;

Scott, D ;

Jenkins, M ;

Petrou, S ;

Sutherland, GR ;

Scheffer, IE ;

Berkovic, SF ;

Macdonald, RL ;

Mulley, JC .

HUMAN MOLECULAR GENETICS, 2004, 13 (13) :1315-1319

[5] Postsynaptic clustering of major GABAA receptor subtypes requires the γ2 subunit and gephyrin [J].

Essrich, C ;

Lorez, M ;

Benson, JA ;

Fritschy, JM ;

Lüscher, B .

NATURE NEUROSCIENCE, 1998, 1 (07) :563-571

[6] Variations on an inhibitory theme:: Phasic and tonic activation of GABAA receptors [J].

Farrant, M ;

Nusser, Z .

NATURE REVIEWS NEUROSCIENCE, 2005, 6 (03) :215-229

[7] δ subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of α4β2δ GABAA receptors [J].

Feng, HJ ;

Kang, JQ ;

Song, LY ;

Dibbens, L ;

Mulley, J ;

Macdonald, RL .

JOURNAL OF NEUROSCIENCE, 2006, 26 (05) :1499-1506

[8] Genetics of idiopathic generalized epilepsies [J].

Gardiner, M .

EPILEPSIA, 2005, 46 :15-20

[9] RETRACTED: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies (Retracted article. See vol 41, pg. 1043, 2009) [J].

Haug, K ;

Warnstedt, M ;

Alekov, AK ;

Sander, T ;

Ramírez, A ;

Poser, B ;

Maljevic, S ;

Hebeisen, S ;

Kubisch, C ;

Rebstock, J ;

Horvath, S ;

Hallmann, K ;

Dullinger, JS ;

Rau, B ;

Haverkamp, F ;

Beyenburg, S ;

Schulz, H ;

Janz, D ;

Giese, B ;

Müller-Newen, G ;

Propping, P ;

Elger, CE ;

Fahlke, C ;

Lerche, H ;

Heils, A .

NATURE GENETICS, 2003, 33 (04) :527-532

[10] Why does fever trigger febrile seizures?: GABAA receptor γ2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies [J].

Kang, JQ ;

Shen, WZ ;

Macdonald, RL .

JOURNAL OF NEUROSCIENCE, 2006, 26 (09) :2590-2597

← 1 2 3 →