Four families from northwestern France with autosomal dominant benign infantile convulsions and paroxysmal choreoathetosis were studied genetically by linkage analysis at the Wellcome Trust Centre for Human Genetics, University of Oxford, UK, and at Genetic Clinics in Amiens, France. Linkage for the disease gene was found in the pericentromeric region of human chromosome 16. [1]
COMMENT. This study provides genetic evidence of an epileptic basis for paroxysmal choreoathetosis. Clinical features in common with epileptic seizures include paroxysmal attacks, tendency to remit, EEG epileptiform abnormalities, and response to antiepileptic drugs. A focus in the basal ganglia has been proposed for this syndrome. In differential diagnosis, choreoathetosis is a rare side effect of several AEDs. (Progress in Pediatric Neurology III, 1997;pl57).