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 | |
| Publication status | Published - 2001 |
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Keywords
- Continuous motor unit activity
- Epilepsy
- KCNA 1
- Neuromyotonia
- Potassium channel
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)
Cite this
Familial continuous motor unit activity and epilepsy. / Liguori, Rocco; Avoni, Patrizia; Baruzzi, Agostino; Stasi, Vitantonio Di; Montagna, Pasquale.
In: Muscle and Nerve, Vol. 24, No. 5, 2001, p. 630-633.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Familial continuous motor unit activity and epilepsy
AU - Liguori, Rocco
AU - Avoni, Patrizia
AU - Baruzzi, Agostino
AU - Stasi, Vitantonio Di
AU - Montagna, Pasquale
PY - 2001
Y1 - 2001
N2 - 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.
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.
KW - Continuous motor unit activity
KW - Epilepsy
KW - KCNA 1
KW - Neuromyotonia
KW - Potassium channel
UR - http://www.scopus.com/inward/record.url?scp=0035031776&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0035031776&partnerID=8YFLogxK
U2 - 10.1002/mus.1048
DO - 10.1002/mus.1048
M3 - Article
C2 - 11317272
AN - SCOPUS:0035031776
VL - 24
SP - 630
EP - 633
JO - Muscle and Nerve
JF - Muscle and Nerve
SN - 0148-639X
IS - 5
ER -