Seizures, Benign Familial Infantile, 4

For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764).

Clinical Features

Li et al. (2008) reported a 4-generation Chinese family in which 8 individuals had benign infantile seizures. Age at seizure onset ranged from 3 to 10 months of life. The proband developed afebrile seizures at age 6 months, characterized by staring, eye deviation, focal clonus of the face, followed by secondarily generalized phase with hypertonia, extremities clonus, cyanosis, and urinary incontinence. The seizures lasted from 30 seconds to 2 minutes and occurred mainly in clusters with 3 to 10 episodes per day. Interictal EEG, brain CT, and MRI were classified as normal. Treatment with sodium valproate was effective, and the proband's seizures spontaneously remitted by 3 years of age.

Mapping

By genomewide linkage analysis of a Chinese family with benign infantile seizures, Li et al. (2008) found an association on chromosome 1p36.12-p35.1 (maximum multipoint lod score of 3.27 at D1S2674). Haplotype analysis defined a 12.4-cM interval between markers D1S2864 and D1S2830.