An autosomal recessive form of benign familial neonatal seizures.

Abstract

We present a consanguineous sibship with benign familial neonatal seizures. The mode of transmission of the disorder in this family seems to be autosomal recessive, which is contrary to the usual autosomal dominant type. Linkage analysis failed to show tight linkage between the disease locus and the autosomal dominant locus assigned to chromosome 20q. We thus conclude that benign familial neonatal seizures is a genetically heterogeneous type of epilepsy.

• Authors: R Schiffmann, Y Shapira, S G Ryan
• Journal: Clinical genetics (Clin Genet) Vol. 40 Issue 6 Pg. 467-70 (Dec 1991) ISSN: 0009-9163 [Print] Denmark
• PMID: 1778008 (Publication Type: Case Reports, Journal Article)

Topics

• Chromosomes, Human, Pair 20
• Consanguinity
• Epilepsy, Tonic-Clonic (classification, genetics)
• Female
• Genes, Recessive
• Humans
• Infant, Newborn
• Lod Score
• Male
• Pedigree