Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest

Eric W. Johnson, Jan Dubovsky, Stephen S. Rich, Cormac A. O'Donovan, Harry T. Orr, V. Elving Anderson, Antonio Gil-Nagel, Peter Ahmann, Charles G. Dokken, Derek T. Schneider, James L. Weber

Research output: Contribution to journalArticlepeer-review

153 Scopus citations

Abstract

Febrile convulsions are a common form of childhood seizure. It is estimated that between 2 and 5% of children will have a febrile convulsion before the age of 5. It has long been recognized that there is a significant genetic component for susceptibility to this type of seizure. Wallace, Berkovic and co-workers recently reported linkage of a putative autosomal dominant febrile convulsion gene to chromosome 8q13-21. We report here another autosomal dominant febrile convulsion locus on chromosome 19p. Linkage analysis in this large multi-generational family gave a maximum pair-wise lod score of 4.52 with marker Mfd120 at locus D19S177. Linkage to the chromosome 8 locus was excluded in this family. Haplotype analysis using both affected and unaffected family members indicates that this febrile convulsion gene, which we call FEB2, can be localized to an 11.7 cM, 1-2 Mb section of chromosome 19p13.3, between loci D19S591 and D19S395.

Original languageEnglish (US)
Pages (from-to)63-67
Number of pages5
JournalHuman molecular genetics
Volume7
Issue number1
DOIs
StatePublished - Jan 1998

Bibliographical note

Funding Information:
The authors would like to thank the various members of our study family for their cooperation and enthusiastic participation. We gratefully acknowledge Dr Samuel Berkovic, Dr R.H.Wallace and their co-workers for allowing us access to a preprint of their C8q linkage paper several months before its publication. Finally, Mrs Mary Spindler here at the Marshfield Medical Research and Education Foundation was essential for collecting samples and isolating DNA from the K4 family presented here. This work was supported in part by NIH grant NS16308.

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