Seizures, Benign Familial Neonatal, 3

For a phenotypic description and a discussion of genetic heterogeneity of benign familial neonatal seizures, see BFNS1 (121200).

Clinical Features

Concolino et al. (2002) reported a family in which 3 members over 3 generations had benign neonatal seizures inherited in an autosomal dominant pattern.

Cytogenetics

By cytogenic analysis in a family with benign neonatal seizures, Concolino et al. (2002) identified a pericentric inversion of chromosome 5, inv(5)(p15q11), which was present in all 3 affected members and absent in 3 unaffected first-degree relatives. The authors noted that the breakpoint was different from that found in cri-du-chat syndrome (123450).