Abstract
Background: Neuronal ion channel disorders can manifest as epilepsy, migraine, ataxia and neuromyotonia. Clinical diagnosis is challenging as features may be paroxysmal. Structural assessment is unhelpful because channelopathies predominantly affect neuronal function. Nerve excitability studies provide multidimensional information about the function of ion channels expressed in peripheral axons. The aim of this study was to test the hypothesis that the genetic channelopathy Benign Familial Neonatal Convulsions (BFNC) due to mutations of KCNQ2 encoding the Kv7.2 subunit of slow axonal potassium channels is associated with characteristically abnormal peripheral nerve excitability, even in the absence of peripheral nerve signs.
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