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

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.

SUBMITTER: Lewis TB

PROVIDER: S-EPMC1682419 | biostudies-literature | 1993 Sep

REPOSITORIES: biostudies-literature

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

Lewis T B TB Leach R J RJ Ward K K O'Connell P P Ryan S G SG

American journal of human genetics 19930901 3

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 wi ...[more]

PMID: 8102508

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