Benign infantile seizures and paroxysmal dyskinesia: A well-defined familial syndrome

摘要: Abstract The aim of this study was to analyze the electroclinical features and evolution in patients with benign infantile seizures (BIS) associated paroxysmal dyskinesia (PD). Patients methods Among 198 BIS (78 whom were familial cases), we evaluated 12 unrelated PD seen at two pediatric neurology departments from January 1990 February 2009. Results eight boys four girls, one not a case. time follow-up between 6 19 years. Median age onset epilepsy 7 months (R: 5–18m). Seizures brief, focal, or without secondary generalization, occurred clusters 58% cases. Seven 13 family members had PD. 5 18 years it characterized by choreoathetosis dystonia 8. kinesigenic all As history, found mothers patients, fathers five, grandfather one, grand-uncle uncles four, brothers three, sisters three other patients. mother brother cousin an uncle aunt grandfathers two. During follow-up, patient relative different families presented Rolandic epilepsy. father case also focal adolescence. Conclusions syndrome is well-defined syndrome. similar described non-familial BIS. who developed later, suggests that forms may have genetic cause be caused de novo mutations.