Journal article

Cortical alterations in a model for absence epilepsy and febrile seizures: In vivo findings in mice carrying a human GABA(A)R gamma2 subunit mutation

Jens Witsch, Daniel Golkowski, Thomas TG Hahn, Steven Petrou, Hartwig Spors

NEUROBIOLOGY OF DISEASE | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2015

Abstract

Childhood absence epilepsy (CAE) is one of the most common forms of epilepsy among children. The study of a large Australian family demonstrated that a point mutation in the gene encoding the gamma2 subunit of the GABA(A) receptor (G2R43Q) leads to an autosomal dominantly inherited form of CAE and febrile seizures (FS). In a transgenic mouse model carrying the gamma2 (R43Q) mutation heterozygous animals recapitulate the human phenotype. In-vitro experiments indicated that this point mutation impairs cortical inhibition and thus increases the likelihood of seizures. Here, using whole-cell (WC) and extracellular (EC) recordings as well as voltage-sensitive dye imaging (VSDI), we systematically..

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Grants

Awarded by German Federal Ministry of Education and Research


Awarded by research fellowship of the Deutsche Forschungsgemeinschaft


Awarded by German Federal Ministry of Education and Research (BMBF)


Awarded by NHMRC


Awarded by NMHRC


Funding Acknowledgements

This work was supported by a grant of the German Federal Ministry of Education and Research to Hartwig Spors (BMBF grant 01GA0504). Jens Witsch's work was supported by a research fellowship of the Max-Planck Society and by a research fellowship of the Deutsche Forschungsgemeinschaft (Wi4300/1-1). Daniel Golkowski's work was supported by a research fellowship of the Max-Planck Society. Thomas Hahn's work was supported by the Max-Planck Society, Germany, and the German Federal Ministry of Education and Research (BMBF grants 01GQ1007 and 01GQ1003B).Steven Petrou's work was supported by NHMRC program grant 400121 and NMHRC fellowship 1005050. The Florey Institute of Neuroscience and Mental Health is supported by Victorian State Government infrastructure funds.