Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq

The abundance of cis-acting loci leading to differential allele expression in F1 mice and their relationship to loci harboring genes affecting complex traits

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Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes

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Altered GABAA receptor expression in brainstem nuclei and SUDEP in Gabrg2+/Q390X mice associated with epileptic encephalopathy

(2016) Geqing Xia et al.   EPILEPSY RESEARCH

GABRA2Alcohol Dependence Risk Allele is Associated with Reduced Expression of Chromosome 4p12 GABAASubunit Genes in Human Neural Cultures

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Influence of arachidonyl-2′-chloroethylamide, a selective cannabinoid CB1 receptor agonist, on the anticonvulsant and acute side-effect potentials of clobazam, lacosamide, and pregabalin in the maximal electroshock-induced seizure model and chimney test i

(2015) Magdalena Florek-Luszczki et al.   FUNDAMENTAL & CLINICAL PHARMACOLOGY

The Nsun7 (A11337)-deletion mutation, causes reduction of its protein rate and associated with sperm motility defect in infertile men

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StringTie enables improved reconstruction of a transcriptome from RNA-seq reads

(2015) Mihaela Pertea et al.   NATURE BIOTECHNOLOGY

Ensembl 2016

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Subunit composition of glutamate and gamma-aminobutyric acid receptors in status epilepticus

(2014) Tobias Loddenkemper et al.   EPILEPSY RESEARCH

Mechanisms of sudden unexpected death in epilepsy: the pathway to prevention

(2014) Cory A. Massey et al.   Nature Reviews Neurology

Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice

(2014) Akshitkumar M. Mistry et al.   NEUROBIOLOGY OF DISEASE

Effect of GABRA2 Genotype on Development of Incentive-Motivation Circuitry in a Sample Enriched for Alcoholism Risk

(2014) Mary M Heitzeg et al.   NEUROPSYCHOPHARMACOLOGY

Clobazam and Its Active Metabolite N-desmethylclobazam Display Significantly Greater Affinities for α2- versus α1-GABAA–Receptor Complexes

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Modulation of GABAergic transmission in development and neurodevelopmental disorders: investigating physiology and pathology to gain therapeutic perspectives

(2014) Gabriele Deidda et al.   Frontiers in Cellular Neuroscience

A GABRA2 Variant Is Associated with Increased Stimulation and ‘High’ Following Alcohol Administration

(2013) Albert J. Arias et al.   ALCOHOL AND ALCOHOLISM

Antihyperalgesic Effect of the GABAALigand Clobazam in a Neuropathic Pain Model in Mice: A Pharmacokinetic-Pharmacodynamic Study

(2013) Marie Besson et al.   BASIC & CLINICAL PHARMACOLOGY & TOXICOLOGY

Mapping genetic modifiers of survival in a mouse model of Dravet syndrome

(2013) A. R. Miller et al.   GENES BRAIN AND BEHAVIOR

Sudden unexpected death in a mouse model of Dravet syndrome

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

Changes in the expression of GABAA receptor subunit mRNAs in parahippocampal areas after kainic acid induced seizures

(2013) Meinrad Drexel et al.   Frontiers in Neural Circuits

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

(2013) Daehwan Kim et al.   GENOME BIOLOGY

Complex Control of GABA(A) Receptor Subunit mRNA Expression: Variation, Covariation, and Genetic Regulation

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GABAA Receptor Physiology and Its Relationship to the Mechanism of Action of the 1,5-Benzodiazepine Clobazam

(2011) Raman Sankar   CNS DRUGS

Genetic modifiers of neurological disease

(2011) Jennifer A Kearney   CURRENT OPINION IN GENETICS & DEVELOPMENT

Insights into pathophysiology and therapy from a mouse model of Dravet syndrome

(2011) John C. Oakley et al.   EPILEPSIA

The core Dravet syndrome phenotype

(2011) Charlotte Dravet   EPILEPSIA

Interactions of stiripentol with clobazam and valproate in the mouse maximal electroshock-induced seizure model

(2010) Jarogniew J. Luszczki et al.   EPILEPSY RESEARCH

Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

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Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

(2010) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

(2010) Jeremy Goecks et al.   GENOME BIOLOGY

Selective changes in GABAA receptor subtypes in white matter neurons of patients with focal epilepsy

(2009) F. Loup et al.   BRAIN

Mapping and Identification of GABAergic Neurons in Transgenic Mice Projecting to Cardiac Vagal Neurons in the Nucleus Ambiguus Using Photo-Uncaging

(2009) J. G. Frank et al.   JOURNAL OF NEUROPHYSIOLOGY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE

Antiepileptic drug resistant rats differ from drug responsive rats in GABAA receptor subunit expression in a model of temporal lobe epilepsy

(2008) Kerstin Bethmann et al.   NEUROBIOLOGY OF DISEASE

GABA-A2 receptor subunit gene (GABRA2) polymorphisms and risk for alcohol dependence

(2007) M. Soyka et al.   JOURNAL OF PSYCHIATRIC RESEARCH