Familial continuous motor unit activity and epilepsy

被引：21

作者：

Liguori, R ^{[1
]}

Avoni, P ^{[1
]}

Baruzzi, A ^{[1
]}

Di Stasi, V ^{[1
]}

Montagna, P ^{[1
]}

机构：

[1] Univ Bologna, Inst Neurol, I-40123 Bologna, Italy

来源：

MUSCLE & NERVE | 2001年 / 24卷 / 05期

关键词：

continuous motor unit activity; epilepsy; KCNA1; neuromyotonia; potassium channel;

D O I：

10.1002/mus.1048

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. (C) 2001 John Wiley & Sons, Inc.

引用

页码：630 / 633

页数：4

共 14 条

[1]

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[2] HEREDITARY FORM OF SUSTAINED MUSCLE-ACTIVITY OF PERIPHERAL-NERVE ORIGIN CAUSING GENERALIZED MYOKYMIA AND MUSCLE-STIFFNESS [J].