PubMed 17140792

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: KCNQ2 , Kv1.1 , Kv1.2 , Kv1.6 , Kv7.2

Title: Inherited neuromyotonia: a clinical and genetic study of a family.

Authors: Antonio Falace, Pasquale Striano, Fiore Manganelli, Antonietta Coppola, Salvatore Striano, Carlo Minetti, Federico Zara

Journal, date & volume: Neuromuscul. Disord., 2007 Jan , 17, 23-7

PubMed link:

Neuromyotonia is a disorder of peripheral nerve hyperexcitability characterized by myokymia, muscle cramps and stiffness, delayed muscle relaxation after contraction (pseudomyotonia), and hyperhidrosis, associated with well described spontaneous electromyographic features. It is usually an acquired disorder associated with autoantibodies against neuronal voltage-gated potassium channels. However, mutations of KCNA1, encoding the K(+) channel subunit hKv1.1, have been reported in rare families with neuromyotonia, and mutations in KCNQ2, encoding voltage-gated potassium M channel subunit, in families with benign neonatal seizures and myokymia. We report a three-generation family with inherited neuromyotonia without evidence of immunological involvement. Genetic study excluded mutations in KCNA1, KCNA2, KCNA6 and KCNQ2 genes. Our study does not completely exclude the involvement of other genes encoding ion channels subunits in the pathogenesis of this disorder. Further studies of familial cases will shed light on the molecular basis of inherited neuromyotonia.