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Multiple molecular mechanisms for a single GABA(A) mutation in epilepsy

OBJECTIVE: To understand the molecular basis and differential penetrance of febrile seizures and absence seizures in patients with the γ2(R43Q) GABA(A) receptor mutation. METHODS: Spike-and-wave discharges and thermal seizure susceptibility were measured in heterozygous GABA(A) γ2 knock-out and GABA...

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Detalhes bibliográficos
Main Authors: Reid, Christopher A., Kim, Taehwan, Phillips, A. Marie, Low, Jun, Berkovic, Samuel F., Luscher, Bernhard, Petrou, Steven
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3653202/
https://ncbi.nlm.nih.gov/pubmed/23408872
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182872867
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