Genetic heterogeneity in benign familial neonatal convulsions: Identification of a new locus on chromosome 8q
Journal Article
·
· American Journal of Human Genetics; (United States)
OSTI ID:5044295
- Univ. of Texas Health Science Center, San Antonio, TX (United States)
- Univ. of Utah Medical School, Salt Lake City, UT (United States)
The syndrome of benign familial neonatal convulsions (BFNC) is a rare autosomal dominant disorder characterized by unprovoked seizures in the first weeks of life. One locus for BFNC has been mapped to chromosome 20 in several pedigrees, but the authors 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. 26 refs., 3 figs., 1 tab.
- OSTI ID:
- 5044295
- Journal Information:
- American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 53:3; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
Similar Records
Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: Linkage to convulsions and electroencephalography trait
Confirmation of chromosome 9p linkage in familial melanoma
Homozygosity mapping of the Werner syndrome locus (WRN)
Journal Article
·
Tue Aug 01 00:00:00 EDT 1995
· American Journal of Human Genetics
·
OSTI ID:105245
Confirmation of chromosome 9p linkage in familial melanoma
Journal Article
·
Fri Oct 01 00:00:00 EDT 1993
· American Journal of Human Genetics; (United States)
·
OSTI ID:5135259
Homozygosity mapping of the Werner syndrome locus (WRN)
Journal Article
·
Sat Oct 01 00:00:00 EDT 1994
· Genomics
·
OSTI ID:183696