Familial continuous motor unit activity and epilepsy

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

doi:10.1002/mus.1048

Familial continuous motor unit activity and epilepsy

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

Istituto Scienze Neurologiche

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	630-633
Number of pages	4
Journal	Muscle and Nerve
Volume	24
Issue number	5
DOIs	https://doi.org/10.1002/mus.1048
Publication status	Published - 2001

Keywords

Continuous motor unit activity
Epilepsy
KCNA 1
Neuromyotonia
Potassium channel

ASJC Scopus subject areas

Clinical Neurology
Neuroscience(all)

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AU - Liguori, Rocco

AU - Avoni, Patrizia

AU - Baruzzi, Agostino

AU - Stasi, Vitantonio Di

AU - Montagna, Pasquale

PY - 2001

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AB - 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.

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KW - Epilepsy

KW - KCNA 1

KW - Neuromyotonia

KW - Potassium channel

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