title: Familial paroxysmal exercise-induced dyskinesia and benign epilepsy: a clinical and neurophysiological study of an uncommon disorder.
abstract: 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.
authors.affiliation: Department of Neurological and Psychiatric Sciences, University of Bari, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Margari
authors.forename: T
authors.initials: T
authors.lastname: Perniola
authors.forename: G
authors.initials: G
authors.lastname: Illiceto
authors.forename: E
authors.initials: E
authors.lastname: Ferrannini
authors.forename: M G
authors.initials: MG
authors.lastname: De Iaco
authors.forename: A
authors.initials: A
authors.lastname: Presicci
authors.forename: R
authors.initials: R
authors.lastname: Santostasi
authors.forename: P
authors.initials: P
authors.lastname: Ventura
mesh_terms: 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