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Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

pengarang

Patricia Brown

Derek Bowie

Patrick Cossette

diterbitkan dalam: European Journal of Neuroscience

tanggal publikasi: 2011-06-30

bahasa: Inggris

Cites articles 52

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2010-03-01

NaV1.1 channels and epilepsy
2010-03-30

Mutations affecting GABAergic signaling in seizures and epilepsy

Aristea S Galanopoulou
2010-04-08

Alternative splicing and evolution: diversification, exon definition and function
2010-04-07

Neurological channelopathies: new insights into disease mechanisms and ion channel function

Dimitri Kullmann
2010-03-22

Mutations in GABAA receptor subunits associated with genetic epilepsies
2010-05-20

Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies

Motohiro Okada, Shinichi Hirose
2010-04-07

Axon initial segment dysfunction in epilepsy

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2009-10-21

An epilepsy-related region in the GABA(A) receptor mediates long-distance effects on GABA and benzodiazepine binding sites

Steven Petrou
2009-05-22

Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes
2009-03-01

Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X
2009-12-20

Role of voltage-gated calcium channels in epilepsy

Gerald W. Zamponi, Philippe Lory
2008-09-01

Developmental impact of a familial GABAA receptor epilepsy mutation

Cindy Chiu, Christopher A Reid, Samuel Berkovic, Rolf Sprengel
2008-03-01

Navigating the channels and beyond: unravelling the genetics of the epilepsies

Samuel Berkovic, Ingrid Scheffer
2008-08-23

Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy

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2008-09

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2008-05-01

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Werner Sieghart
2008-06-01

Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy

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Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation

Nafiseh Atapour, Shigeyoshi Itohara, Kazuhiro Yamakawa
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Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy

Cindy Chiu, Christopher A Reid, Samuel Berkovic, Bert Sakmann, Heinz Krestel, Peter H. Seeburg, Rolf Sprengel, Leanne Dibbens
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Seizures beget seizures: the quest for GABA as a key player
2006-03-01

Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies
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Modes and models of GABA(A) receptor gating
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The role of GABAA receptor biogenesis, structure and function in epilepsy

Christopher N. Connolly
2006-10-01

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Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy

Frank H. Yu, Massimo Mantegazza
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Comparative models of GABAA receptor extracellular and transmembrane domains: important insights in pharmacology and function

Margot Ernst, Stefan Boresch, Werner Sieghart
2005-07

Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy

Guy A. Rouleau, Holger Lerche, Snezana Maljevic, Patrick Cossette
2005-07-27

Sacred disease secrets revealed: the genetics of human epilepsy

Hannes Lohi, Guy A. Rouleau, Antonio V Delgado-Escueta, Patrick Cossette
2005-03-04

Refined structure of the nicotinic acetylcholine receptor at 4A resolution
2004-07-01

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

Samuel Berkovic, Ingrid Scheffer, Grant R Sutherland, Misty Jenkins, Leanne Dibbens
2003-06-01

Effects of gamma2S subunit incorporation on GABAA receptor macroscopic kinetics

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