Article
Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.
Proceedings of the National Academy of Sciences of the United States of America - 12 Mar 2013
Miceli Francesco, Soldovieri Maria Virginia, Ambrosino Paolo, Barrese Vincenzo, Migliore Michele, Cilio Maria Roberta, Taglialatela Maurizio
Abstract excerpt
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 S4 domain of K(V)7.2 have been found in children affected with benign familial neonatal seizures (R213W mutation) or with neonatal epileptic encephalopathy with severe pharmacoresistant seizures and...
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