Familial continuous motor unit activity and epilepsy

Rocco Liguori, Patrizia Avoni, Agostino Baruzzi, Vitantonio Di Stasi, Pasquale Montagna

Research output: Contribution to journalArticlepeer-review

Abstract

A mother and son both had muscle stiffness due to continuous generalized muscle twitching, beginning in childhood and associated with epileptic seizures. Electromyography (EMG) showed continuous motor unit activity (CMUA) at rest, which decreased during ischemia, sleep, and carbamazepine treatment, and was abolished by anesthetic nerve blockade. Genetic analysis disclosed a G724C point mutation in the potassium channel KCNA 1 gene. The electrophysiological data suggested pathological impulse generation in both the peripheral and central nervous system, probably related to abnormal ion channel function.

Original languageEnglish
Pages (from-to)630-633
Number of pages4
JournalMuscle and Nerve
Volume24
Issue number5
DOIs
Publication statusPublished - 2001

Keywords

  • Continuous motor unit activity
  • Epilepsy
  • KCNA 1
  • Neuromyotonia
  • Potassium channel

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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