GAbAA Receptor Subunit Rare Variants Identified in Patients with Idiopathic Generalized Epilepsy Alter Receptor Gating and Assembly

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

European Journal of Neuroscience ◽

10.1111/j.1460-9568.2011.07767.x ◽

2011 ◽

Vol 34 (2) ◽

pp. 237-249 ◽

Cited By ~ 69

Author(s):

Pamela Lachance-Touchette ◽

Patricia Brown ◽

Caroline Meloche ◽

Peter Kinirons ◽

Line Lapointe ◽

...

Keyword(s):

Gabaa Receptor ◽

Receptor Subunit ◽

Faculty Opinions recommendation of Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.717952610.793458111 ◽

2012 ◽

Author(s):

Melanie Bahlo

Keyword(s):

Exome Sequencing ◽

Large Scale ◽

Rare Variants ◽

Mutated GABAA receptor subunits in idiopathic generalized epilepsy

Epilepsia ◽

10.1111/j.1528-1167.2010.02848.x ◽

2010 ◽

Vol 51 ◽

pp. 62-62

Author(s):

Patrick Cossette ◽

Guy A. Rouleau

Keyword(s):

Gabaa Receptor ◽

Gabaa Receptor Subunits ◽

Association of -opioid receptor subunit gene and idiopathic generalized epilepsy

Neurology ◽

10.1212/wnl.59.5.724 ◽

2002 ◽

Vol 59 (5) ◽

pp. 724-728 ◽

Cited By ~ 16

Author(s):

H. Wilkie ◽

A. Osei-Lah ◽

B. Chioza ◽

L. Nashef ◽

D. McCormick ◽

...

Keyword(s):

Opioid Receptor ◽

Receptor Subunit ◽

Subunit Gene ◽

Authors' Voluntary Retraction: H. Wilkie, A. Osei-Lah, B. Chioza, L. Nashef, D. McCormick, P. Asherson, and A.J. Makoff: Association of the -opioid receptor subunit gene and idiopathic generalized epilepsy. Neurology 2002;59:724 728

Neurology ◽

10.1212/wnl.64.3.579 ◽

2005 ◽

Vol 64 (3) ◽

pp. 579-579 ◽

Cited By ~ 3

Author(s):

A. Makoff ◽

P. Asherson ◽

L. Nashef

Keyword(s):

Opioid Receptor ◽

Receptor Subunit ◽

Subunit Gene ◽

Mutated GABAA Receptor Subunits in Idiopathic Generalized Epilepsy

Jasper's Basic Mechanisms of the Epilepsies ◽

10.1093/med/9780199746545.003.0055 ◽

2012 ◽

pp. 714-730 ◽

Cited By ~ 6

Author(s):

Patrick Cossette ◽

Pamela Lachance-Touchette ◽

Guy A. Rouleau

Keyword(s):

Gabaa Receptor ◽

Gabaa Receptor Subunits ◽

Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy

The American Journal of Human Genetics ◽

10.1016/j.ajhg.2012.06.016 ◽

2012 ◽

Vol 91 (2) ◽

pp. 293-302 ◽

Cited By ~ 71

Author(s):

Erin L. Heinzen ◽

Chantal Depondt ◽

Gianpiero L. Cavalleri ◽

Elizabeth K. Ruzzo ◽

Nicole M. Walley ◽

...

Keyword(s):

Exome Sequencing ◽

Large Scale ◽

Rare Variants ◽

No Association of Single Nucleotide Polymorphisms in the ?-Opioid Receptor Subunit Gene with Idiopathic Generalized Epilepsy

Epilepsia ◽

10.1111/j.1528-1167.2006.00844.x ◽

2006 ◽

Vol 47 (10) ◽

pp. 1728-1731 ◽

Cited By ~ 7

Author(s):

Catherine Barratt ◽

Teck Lai ◽

Lina Nashef ◽

Antonio Valentin ◽

Leonora Fisniku ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Opioid Receptor ◽

Receptor Subunit ◽

Nucleotide Polymorphisms ◽

Subunit Gene ◽

Single Nucleotide ◽

Ictal local field potential recordings in nucleus subthalamicus (STN) in a patient with idiopathic generalized epilepsy (IGE)

Klinische Neurophysiologie ◽

10.1055/s-0034-1371245 ◽

2014 ◽

Vol 45 (01) ◽

Author(s):

FC Schmitt ◽

L Büntjen ◽

F Marquardt ◽

S Rampp ◽

H Stefan ◽

...

Keyword(s):

Local Field ◽

Local Field Potential ◽

Field Potential ◽

Nucleus Subthalamicus ◽

A New SYNGAP1 Stop Mutation in a Patient with Idiopathic Generalized Epilepsy Showing Photosensitivity and Electroencephalography Normalization after Eye Opening

Neuropediatrics ◽

10.1055/s-0034-1390659 ◽

2014 ◽

Vol 45 (S 01) ◽

Author(s):

C. von Stülpnagel-Steinbeis ◽

C. Funke ◽

C. Haberl ◽

K. Hörtnagel ◽

J. Jüngling ◽

...

Keyword(s):

Stop Mutation ◽

Eye Opening ◽