A Ca(v)3.2 T-Type Calcium Channel Point Mutation Has Splice-Variant-Specific Effects on Function and Segregates with Seizure Expression in a Polygenic Rat Model of Absence Epilepsy

Low-voltage-activated, or T-type, calcium (Ca(2+)) channels are believed to play an essential role in the generation of absence seizures in the idiopathic generalized epilepsies (IGEs). We describe a homozygous, missense, single nucleotide (G to C) mutation in the Ca(v)3.2 T-type Ca(2+) channel gene...

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Pubblicato in:J Neurosci
Autori principali: Powell, Kim L., Cain, Stuart M., Ng, Caroline, Sirdesai, Shreerang, David, Laurence S., Kyi, Mervyn, Garcia, Esperanza, Tyson, John R., Reid, Christopher A., Bahlo, Melanie, Foote, Simon J., Snutch, Terrance P., O'Brien, Terence J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Society for Neuroscience 2009
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6664949/
https://ncbi.nlm.nih.gov/pubmed/19144837
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.5295-08.2009
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