Article
Familial infantile myoclonic epilepsy: clinical features in a large kindred with autosomal recessive inheritance.
Epilepsia - 1 Dec 2001
de Falco F A, Majello L, Santangelo R, Stabile M, Bricarelli F D, Zara F
Abstract excerpt
PURPOSE: To describe the clinical features of a large kindred with familial infantile myoclonic epilepsy (FIME) with autosomal recessive inheritance, and to discuss the nosology of the early infantile myoclonic epilepsies (IMEs). METHODS: The family descends from the intermarriage of two couples of siblings. In a previous study, we mapped the genetic locus to chromosome 16p13. We analyzed results of family...
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