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| GENETIC-HETEROGENEITY IN BENIGN FAMILIAL NEONATAL CONVULSIONS - IDENTIFICATION OF A NEW LOCUS ON CHROMOSOME-8Q |
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| Author(s): LEWIS TB, LEACH RJ, WARD K, OCONNELL P, RYAN SG |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 53 Issue: 3 Pages: 670-675 Published: SEP 1993 |
| Times Cited: 179 References: 26 |
| 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. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV TEXAS, HLTH SCI CTR, DEPT PEDIAT, 7703 FLOYD CURL DR, SAN ANTONIO, TX 78284 USA
2. UNIV TEXAS, HLTH SCI CTR, DEPT PATHOL, SAN ANTONIO, TX 78284 USA
3. UNIV TEXAS, HLTH SCI CTR, DEPT CELLULAR & STRUCT BIOL, SAN ANTONIO, TX 78284 USA
4. UNIV UTAH, SCH MED, DEPT OBSTET & GYNECOL, SALT LAKE CITY, UT 84112 USA |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: LU559 |
| ISSN: 0002-9297 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |