Familial paroxysmal exercise-induced dyskinesia and benign epilepsy: a clinical and neurophysiological study of an uncommon disorder.
We report a family with 6 members affected by a long-lasting paroxysmal exertion-induced dyskinesia. Fasting and stress were precipitating factors. All the patients of this family had also epileptic seizures mainly of generalised type with a favourable outcome. All patients were submitted to a neurophysiological study which included somatosensory evoked potentials by median nerve stimulation (MN-SEPs), somatosensory evoked potentials by posterior tibial nerve stimulation (PTN-SEPs), brainstem auditory evoked potentials (BAEPs), visual evoked potentials (VEPs), motor evoked potentials (MEPs) by magnetic transcranial cortical stimulation (TCS) and electromyography (EMG). The neurophysiological findings suggest a hyperexcitability at the muscular and brain membrane levels, probably due to an ion channel disorder.
Margari
L
L
Department of Neurological and Psychiatric Sciences, University of Bari, Italy.
Perniola
T
T
Illiceto
G
G
Ferrannini
E
E
De Iaco
M G
MG
Presicci
A
A
Santostasi
R
R
Ventura
P
P
D000328:Adult; D000368:Aged; D002819:Chorea / Q000150:complications* / Q000235:genetics*; D004569:Electroencephalography; D004576:Electromyography; D019305:Epilepsy, Rolandic / Q000150:complications* / Q000235:genetics*; D016057:Evoked Potentials, Auditory, Brain Stem; D019054:Evoked Potentials, Motor; D005073:Evoked Potentials, Somatosensory; D005074:Evoked Potentials, Visual; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D005082:Physical Exertion