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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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Dettagli Bibliografici
Autori principali: Miceli, Francesco, Soldovieri, Maria Virginia, Ambrosino, Paolo, Barrese, Vincenzo, Migliore, Michele, Cilio, Maria Roberta, Taglialatela, Maurizio
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2013
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Accesso online: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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