Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q

Tracey B. Lewis, Robin J Leach, Ken Ward, Peter O'Connell, Stephen G. Ryan

Research output: Contribution to journalArticle

190 Citations (Scopus)

Abstract

The syndrome of benign familial neonatal convulsions (BFNC) is a rare autosomal dominant disorder characterized by unprovoked seizures in the first few weeks of life. One locus for BFNC has been mapped to chromosome 20 in several pedigrees, but we have excluded linkage to chromosome 20 in one large kindred. In order to identify this novel BFNC locus, dinucleotide repeat markers distributed throughout the genome were used to screen this family. Maximum pairwise LOD scores of 4.43 were obtained with markers D8S284 and D8S256 on chromosome 8q. Multipoint analysis placed the BFNC locus in the interval spanned by D8S198-D8S274. This study establishes the presence of a new BFNC locus and confirms genetic heterogeneity of this disorder.

Original languageEnglish (US)
Pages (from-to)670-675
Number of pages6
JournalAmerican Journal of Human Genetics
Volume53
Issue number3
StatePublished - Sep 1993

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Benign Neonatal Epilepsy
Genetic Heterogeneity
Chromosomes
Chromosomes, Human, Pair 20
Dinucleotide Repeats
Inborn Genetic Diseases
Pedigree
Seizures
Genome

ASJC Scopus subject areas

  • Genetics

Cite this

Genetic heterogeneity in benign familial neonatal convulsions : identification of a new locus on chromosome 8q. / Lewis, Tracey B.; Leach, Robin J; Ward, Ken; O'Connell, Peter; Ryan, Stephen G.

In: American Journal of Human Genetics, Vol. 53, No. 3, 09.1993, p. 670-675.

Research output: Contribution to journalArticle

Lewis, Tracey B. ; Leach, Robin J ; Ward, Ken ; O'Connell, Peter ; Ryan, Stephen G. / Genetic heterogeneity in benign familial neonatal convulsions : identification of a new locus on chromosome 8q. In: American Journal of Human Genetics. 1993 ; Vol. 53, No. 3. pp. 670-675.
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