Neutralization of a unique, negatively-charged residue in the voltage sensor of KV7.2 subunits in a sporadic case of benign familial neonatal seizures

Neutralization of a unique, negatively-charged residue in the voltage sensor of KV7.2 subunits in a sporadic case of benign familial neonatal seizures

Benign Familial Neonatal Seizures (BFNS) is a rare, autosomal-dominant epilepsy of the newborn caused by mutations in Kv7.2 (KCNQ2) or Kv7.3 (KCNQ3) genes encoding for neuronal potassium (K+) channel subunits. In this study, we describe a sporadic case of BFNS; the affected child carried heterozygou...

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Bibliographic Details
Main Authors: Francesco Miceli, Maria Virginia Soldovieri, Licia Lugli, Giulia Bellini, Paolo Ambrosino, Michele Migliore, Emanuele Miraglia del Giudice, Fabrizio Ferrari, Antonio Pascotto, Maurizio Taglialatela
Format: Article
Language:English
Published: Elsevier 2009-06-01
Series:Neurobiology of Disease
Subjects:
Benign familial neonatal seizures
Potassium channels
Kv7 subunits
Channel gating
Neuronal excitability
Voltage-sensing
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996109000606

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