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Preclinical Animal Models for Dravet Syndrome: Seizure Phenotypes, Comorbidities and Drug Screening

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Calcium imaging and dynamic causal modelling reveal brain-wide changes in effective connectivity and synaptic dynamics during epileptic seizures

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A homozygous founder mutation inTRAPPC6Bassociates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

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

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The hidden genetics of epilepsy—a clinically important new paradigm

(2014) Rhys H. Thomas et al.   Nature Reviews Neurology

A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes

(2014) Ann J. Johnston et al.   NEUROBIOLOGY OF DISEASE

Zebrafish models for translational neuroscience research: from tank to bedside

(2014) Adam Michael Stewart et al.   TRENDS IN NEUROSCIENCES

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The zebrafish reference genome sequence and its relationship to the human genome

(2013) Kerstin Howe et al.   NATURE

Ultrasensitive fluorescent proteins for imaging neuronal activity

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Efficient genome editing in zebrafish using a CRISPR-Cas system

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(2013) Rebecca Schmidt et al.   Neural Development

Multiple molecular mechanisms for a single GABAA mutation in epilepsy

(2013) C. A. Reid et al.   NEUROLOGY

Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment

(2013) Scott C. Baraban et al.   Nature Communications

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

A novel zebrafish model of hyperthermia-induced seizures reveals a role for TRPV4 channels and NMDA-type glutamate receptors

(2012) Robert F. Hunt et al.   EXPERIMENTAL NEUROLOGY

Structure, Function, and Modulation of GABAAReceptors

(2012) Erwin Sigel et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome

(2011) Bo Li et al.   BMC BIOINFORMATICS

Mutations in GABAAreceptor subunits associated with genetic epilepsies

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International Union of Pharmacology. LXX. Subtypes of  -Aminobutyric AcidA Receptors: Classification on the Basis of Subunit Composition, Pharmacology, and Function. Update

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