Epilepsy and paroxysmal movement disorders in families: evidence for shared mechanisms.
The epilepsies have been regarded as clinically distinct from the paroxysmal movement disorders. Recently, a variety of ion channel defects have been identified as the biological basis of certain familial epilepsies and paroxysmal movement disorders. We studied two families with the co-occurrence of epilepsy, movement disorders and migraine. Information was obtained on 147 individuals in the two families. In family WF, there was a co-occurrence of epilepsy (benign infantile convulsions, idiopathic generalized epilepsy), episodic ataxia (with cerebellar atrophy and without myokymia) and common migraine. In family CL, epilepsy (febrile seizures, febrile seizures plus), kinesigenic paroxysmal dyskinesia and migraine (including hemiplegic migraine) were observed in various combinations over 3 generations. The observations in these two families, together with review of the literature, suggest that the co-occurrence of epilepsy (particularly benign infantile convulsions), paroxysmal movement disorders and migraine is not due to chance. Thus, these distinct clinical phenomena could have a shared biological basis and ion channel defects are an attractive possibility.
Department of Medicine (Neurology), University of Melbourne, Austin, Australia.
R
R
Singh
R A
RA
Macdonell
I E
IE
Scheffer
K M
KM
Crossland
S F
SF
Berkovic
D000293:Adolescent; D000328:Adult; D002819:Chorea / Q000175:diagnosis / Q000235:genetics*; D004200:Diseases in Twins / Q000235:genetics; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006429:Hemiplegia / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D008881:Migraine Disorders / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics*