Benign familial infantile seizures: Further delineation of the syndrome

摘要: Benign familial infantile seizures are an autosomal dominant epilepsy disorder that is characterized by convulsions, with onset at age 3 to 12 months and a favorable outcome. have been linked chromosome 19q whereas convulsions choreoathetosis syndrome, in which benign seizure associated paroxysmal choreoathetosis, has 16p 12-q12. Many additional families from diverse ethnic backgrounds similar syndromes the 16 syndrome region. Moreover, one large pedigree kinesiogenic dyskinesias only, also same genomic area. Families pure may be as well. In this study, we present series of 19 24 otherwise healthy infants seizures. Two these include members affected choreoathetosis. We included patients normal neurologic examinations, who started having simple partial seizures, complex or apparently generalized without recognized etiology between 2 years age. Neurologic studies were normal, but all patients, there was history either father mother. Twenty-four (14 girls 10 boys) evaluated our hospital February 1990 2001. Age onset, sex, family and/or dyskinesias, examination, semiology, distribution, frequency duration evaluated. Electroencephalographic (EEG) neuroradiologic performed. Seizures began 22 life, median 5 1/2 months. Nine (37.5%) had only (20.8%) both (41.6%). invariably brief, occurred during waking state (100%), presented mainly clusters (50%). Interictal EEG 23 (95.8%). Sixteen (66.6%) confirmed other than parents. Twenty-two became free after 30 life. brothers brief episodes hemibody triggered stress while awake 15 17 old, respectively. One them spontaneous when 18 years. All good response antiepilepsy drugs, examination normal. genetic inheritance. It (infantile syndrome), Patients could display both. likely disease region cannot exclude possibility youngest develop later