Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions

CONCOLINO D;IEMBO MA;ROSSI E;GIGLIO, SABRINA RITA;COPPOLA G;MIRAGLIA DEL GIUDICE E;STRISCIUGLIO P.

2002-01-01

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Abstract

We describe a family in whom a pericentric inversion of chromosome 5 segregates with benign familial neonatal convulsions (BFNC). BFNC is an autosomal dominant form of epilepsy characterised by spontaneous partial or generalised clonic convulsions beginning within the first months of life. Seizures usually disappear by the age of 6 months; intercritical electroencephalogram and subsequent psychomotor development are normal. BFNC loci have been mapped to human chromosomes 20q13.3 (BFNC1) and 8q24 (BFNC2), based on linkage analysis.