Benign familial infantile convulsions: phenotypic variability in a family.

摘要: Benign familial infantile convulsion is an autosomal dominant epilepsy syndrome characterized by seizures starting from 3 to 12 months and a favorable outcome. We present Turkish family with benign convulsions report the clinical variability associated this in three generations. All 11 affected members had seizures, which were primarily generalized all but one patient, who partial secondary generalization. The started within first year accompanied normal neurologic development good response treatment phenobarbital. In family, phenotype extended beyond infancy. index patient unilateral occipital spike waves on electroencephalography (EEG), although he no at 4 years of age. Follow-up EEG 1 later showed that discharges shifted lobe other hemisphere. grandmother temporal as adult, after remission convulsions. One patients experienced paroxysmal choreoathetosis during adolesence. Our findings highlight intrafamilial phenotypic large pedigree long-term follow-up.