mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAAreceptor subunits associated with genetic epilepsies

The Intronic GABRG2 Mutation, IVS6+2T->G, Associated with Childhood Absence Epilepsy Altered Subunit mRNA Intron Splicing, Activated Nonsense-Mediated Decay, and Produced a Stable Truncated  2 Subunit

(2012) M. Tian et al.   JOURNAL OF NEUROSCIENCE

The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through

(2012) Xuan Huang et al.   NEUROBIOLOGY OF DISEASE

Location-Dependent Effects of Inhibition on Local Spiking in Pyramidal Neuron Dendrites

(2012) Monika Jadi et al.   PLoS Computational Biology

Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy

(2011) Tara Klassen et al.   CELL

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

(2011) Pamela Lachance-Touchette et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

De novo SCN1A mutations in migrating partial seizures of infancy

(2011) D. Carranza Rojo et al.   NEUROLOGY

Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy

(2010) Pamela Lachance-Touchette et al.   EPILEPSIA

Glycosylation of β2 Subunits Regulates GABAAReceptor Biogenesis and Channel Gating

(2010) Wen-yi Lo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

GABAAReceptor α1 Subunit Mutation A322D Associated with Autosomal Dominant Juvenile Myoclonic Epilepsy Reduces the Expression and Alters the Composition of Wild Type GABAAReceptors

(2010) Li Ding et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Slow Degradation and Aggregation In Vitro of Mutant GABAA Receptor  2(Q351X) Subunits Associated with Epilepsy

(2010) J.-Q. Kang et al.   JOURNAL OF NEUROSCIENCE

Mutations in GABAAreceptor subunits associated with genetic epilepsies

(2010) Robert L. Macdonald et al.   JOURNAL OF PHYSIOLOGY-LONDON

Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus

(2010) Nicole A. Hawkins et al.   NEUROBIOLOGY OF DISEASE

Two Molecular Pathways (NMD and ERAD) Contribute to a Genetic Epilepsy Associated with the GABAA Receptor GABRA1 PTC Mutation, 975delC, S326fs328X

(2009) J.-Q. Kang et al.   JOURNAL OF NEUROSCIENCE

The GABRG2 Mutation, Q351X, Associated with Generalized Epilepsy with Febrile Seizures Plus, Has Both Loss of Function and Dominant-Negative Suppression

(2009) J.-Q. Kang et al.   JOURNAL OF NEUROSCIENCE

Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism

(2009) R J Delahanty et al.   MOLECULAR PSYCHIATRY

Enhanced tonic GABAA inhibition in typical absence epilepsy

(2009) David W Cope et al.   NATURE MEDICINE

Making sense of nonsense GABAA receptor mutations associated with genetic epilepsies

(2009) Jing-Qiong Kang et al.   TRENDS IN MOLECULAR MEDICINE

Hyperglycosylation and Reduced GABA Currents of Mutated GABRB3 Polypeptide in Remitting Childhood Absence Epilepsy

(2008) Miyabi Tanaka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mechanisms Involved in the Reduction of GABAAReceptor α1-Subunit Expression Caused by the Epilepsy Mutation A322D in the Trafficking-competent Receptor

(2008) Clarrisa A. Bradley et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus

(2008) Huihui Sun et al.   JOURNAL OF HUMAN GENETICS

Preprocalcitonin signal peptide generates a cytotoxic T lymphocyte-defined tumor epitope processed by a proteasome-independent pathway

(2008) F. El Hage et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA