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Genotype–phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits

Mutations in the K(V)7.2 gene encoding for voltage-dependent K(+) channel subunits cause neonatal epilepsies with wide phenotypic heterogeneity. Two mutations affecting the same positively charged residue in the S(4) domain of K(V)7.2 have been found in children affected with benign familial neonata...

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Detalhes bibliográficos
Main Authors: Miceli, Francesco, Soldovieri, Maria Virginia, Ambrosino, Paolo, Barrese, Vincenzo, Migliore, Michele, Cilio, Maria Roberta, Taglialatela, Maurizio
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3600471/
https://ncbi.nlm.nih.gov/pubmed/23440208
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1216867110
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