Familial continuous motor unit activity and epilepsy
- 29 May 2001
- journal article
- research article
- Published by Wiley in Muscle & Nerve
- Vol. 24 (5) , 630-633
- https://doi.org/10.1002/mus.1048
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 KCNA1 gene. The electrophysiological data suggested pathological impulse generation in both the peripheral and central nervous system, probably related to abnormal ion channel function. © 2001 John Wiley & Sons, Inc. Muscle Nerve 24: 630–633, 2001Keywords
This publication has 13 references indexed in Scilit:
- Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variabilityAnnals of Neurology, 2000
- A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newbornsNature Genetics, 1998
- Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1Nature Genetics, 1994
- Neuromyotonia in hereditary motor neuropathy.Journal of Neurology, Neurosurgery & Psychiatry, 1991
- Normocalcemic tetany abolished by calcium infusionAnnals of Neurology, 1990
- Hereditary Continuous Muscle Fiber ActivityArchives of Neurology, 1984
- Hereditary form of sustained muscle activity of peripheral nerve origin causing generalized myokymia and muscle stiffnessAnnals of Neurology, 1984
- A dominantly inherited syndrome with continuous motor neuron dischargesAnnals of Neurology, 1983
- Hereditary myokymia and periodic ataxiaJournal of the Neurological Sciences, 1975
- A critical survey of stiff-man syndromeThe American Journal of Medicine, 1967