Journal article
Effects of the T-type calcium channel CaV3.2 R1584P mutation on absence seizure susceptibility in GAERS and NEC congenic rats models
PM Casillas-Espinosa, R Lin, R Li, NM Nandakumar, G Dawson, EL Braine, B Martin, KL Powell, TJ O'Brien
Neurobiology of Disease | Published : 2023
Abstract
Rationale: Low-voltage-activated or T-type Ca2+ channels play a key role in the generation of seizures in absence epilepsy. We have described a homozygous, gain of function substitution mutation (R1584P) in the CaV3.2 T-type Ca2+ channel gene (Cacna1h) in the Genetic Absence Epilepsy Rats from Strasbourg (GAERS). The non-epileptic control (NEC) rats, derived from the same original Wistar strains as GAERS but selectively in-breed not to express seizures, are null for the R1584P mutation. To study the effects of this mutation in rats who otherwise have a GAERS or NEC genetic background, we bred congenic GAERS-Cacna1hNEC (GAERS null for R1584P mutation) and congenic NEC-Cacna1hGAERS (NEC homozy..
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Funding Acknowledgements
The authors thank Prof Antoine Depaulis from the Grenoble Institute for Neurosciences for his constructive input on the writing of the manuscript.P.M. Casillas-Espinosa is supported by an Early Career Fellowship from the National Health and Medical Research Council (APP1087172), Department of Defence USA Epilepsy Research Program (EP200022), and The Brain Foundation of Australia.T.J. O'Brien is supported by a Program Grant (APP1091593) and Investigator Grant (APP1176426) from the National Health and Medical Research Council of Australia and the Victorian Medical Research Acceleration Fund.