Key result
A G724C point mutation in the potassium channel KCNA1 gene was identified in a mother and son with continuous motor unit activity and epilepsy.
Case Report (n=2)
Identified a G724C point mutation in the KCNA1 gene associated with familial continuous motor unit activity and epilepsy.
No immediate clinical implications; leaves open whether G724C KCNA1 mutations cause familial continuous motor unit activity with epilepsy.
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.
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Liguori et al. (2001) conducted a case report in Familial continuous motor unit activity and epilepsy (n=2). G724C point mutation in the potassium channel KCNA1 gene was evaluated on Electrophysiological and genetic findings. A G724C point mutation in the potassium channel KCNA1 gene was identified in a mother and son with continuous motor unit activity and epilepsy.
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