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

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Article

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

American journal of human genetics - 1 Sept 1993

Lewis T B, Leach R J, Ward K, O'Connell P, Ryan S G

Abstract excerpt

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...

Topics

Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 20
Chromosomes, Human, Pair 8
Epilepsy, Generalized
Genetic Linkage
Genetic Variation
Humans
Infant
Infant, Newborn
Lod Score

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Pedigree

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Repetitive Sequences, Nucleic Acid

Spasms, Infantile

Source

Open in PubMed Open full text

Identifiers

PMID: 8102508
PMCID: PMC1682419

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8102508-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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