Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13

Federico Zara, Elena Gennaro, Mariano Stabile, Ilaria Carbone, Michela Malacarne, Luigi Majello, Roberto Santangelo, Fabrizio Antonio De Falco, Franca Dagna Bricarelli

Research output: Contribution to journalArticlepeer-review

Abstract

Myoclonic epilepsies with onset in infancy and childhood are clinically and etiologically heterogeneous. Although genetic factors are thought: to play an important role, to date very little is known about the etiology of these disorders. We ascertained a large Italian pedigree segregating a recessive idiopathic myoclonic epilepsy that starts in early infancy as myoclonic seizures, febrile convulsions, and tonic-clonic seizures. We typed 304 microsatellite markers spanning the 22 autosomes and mapped the locus on chromosome 16p13 by linkage analysis. A maximum LOD score of 4.48 was obtained for marker D16S3027 at recombination fraction 0. Haplotype analysis placed the critical region within a 3.4-cM interval between D16S3024 and D16S423. The present report constitutes the first example of an idiopathic epilepsy that is inherited as an autosomal recessive trait.

Original languageEnglish
Pages (from-to)1552-1557
Number of pages6
JournalAmerican Journal of Human Genetics
Volume66
Issue number5
DOIs
Publication statusPublished - 2000

ASJC Scopus subject areas

  • Genetics

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