The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration

Brain morphometry of Dravet Syndrome

(2014) Alejandro Pérez et al.   EPILEPSY RESEARCH

Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy

(2014) Atsushi Ishii et al.   EPILEPSY RESEARCH

GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

(2014) G. L. Carvill et al.   NEUROLOGY

Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype

(2013) Jing-Qiong Kang et al.   ANNALS OF NEUROLOGY

A protocol for concurrent high-quality immunohistochemical and biochemical analyses in adult mouse central nervous system

(2013) Tina Notter et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome

(2013) Ikuo Ogiwara et al.   HUMAN MOLECULAR GENETICS

Altered Cortical GABAAReceptor Composition, Physiology, and Endocytosis in a Mouse Model of a Human Genetic Absence Epilepsy Syndrome

(2013) Chengwen Zhou et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Sudden unexpected death in a mouse model of Dravet syndrome

(2013) Franck Kalume et al.   JOURNAL OF CLINICAL INVESTIGATION

Multiple molecular mechanisms for a single GABAA mutation in epilepsy

(2013) C. A. Reid et al.   NEUROLOGY

Decreased viability and absence-like epilepsy in mice lacking or deficient in the GABAA receptor α1 subunit

(2012) Fazal M. Arain et al.   EPILEPSIA

A homozygous mutation of voltage-gated sodium channel βIgeneSCN1Bin a patient with Dravet syndrome

(2012) Ikuo Ogiwara et al.   EPILEPSIA

Caspase-3 in the central nervous system: beyond apoptosis

(2012) Marcello D’Amelio et al.   TRENDS IN NEUROSCIENCES

A Mouse Monoclonal Antibody Against the γ2 Subunit of GABAA Receptors

(2011) Suchitra Joshi et al.   HYBRIDOMA

Abbreviated report of the NIH/NINDS workshop on sudden unexpected death in epilepsy

(2011) L. J. Hirsch et al.   NEUROLOGY

Caspase-3 Activation via Mitochondria Is Required for Long-Term Depression and AMPA Receptor Internalization

(2010) Zheng Li et al.   CELL

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

Protein homeostasis and aging in neurodegeneration

(2010) Peter M. Douglas et al.   JOURNAL OF CELL BIOLOGY

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

Kv1.1 Potassium Channel Deficiency Reveals Brain-Driven Cardiac Dysfunction as a Candidate Mechanism for Sudden Unexplained Death in Epilepsy

(2010) E. Glasscock et al.   JOURNAL OF NEUROSCIENCE

Ageing and protein aggregation-mediated disorders: from invertebrates to mammals

(2010) A. Dillin et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome

(2009) Xiuyu Shi et al.   BRAIN & DEVELOPMENT

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin

(2009) S. E. Heron et al.   JOURNAL OF MEDICAL GENETICS

The Mammalian Target of Rapamycin Signaling Pathway Mediates Epileptogenesis in a Model of Temporal Lobe Epilepsy

(2009) L.-H. Zeng 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

A Functional Null Mutation of SCN1B in a Patient with Dravet Syndrome

(2009) G. A. Patino et al.   JOURNAL OF NEUROSCIENCE

Stability of surface NMDA receptors controls synaptic and behavioral adaptations to amphetamine

(2009) Li-Min Mao et al.   NATURE NEUROSCIENCE

MUFOLD: A new solution for protein 3D structure prediction

(2009) Jingfen Zhang et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Neuronal Apoptosis and Autophagy Cross Talk in Aging PS/APP Mice, a Model of Alzheimer's Disease

(2008) Dun-Sheng Yang et al.   AMERICAN JOURNAL OF PATHOLOGY

Adapting Proteostasis for Disease Intervention

(2008) William E. Balch et al.   SCIENCE

Polyglutamine neurodegeneration: protein misfolding revisited

(2008) Aislinn J. Williams et al.   TRENDS IN NEUROSCIENCES