ArticleAmerican journal of human genetics2000
Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.The Journal of biological chemistry · 2024Article
- A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Article
- Genetic and epigenetic mechanisms of epilepsy: a review.Neuropsychiatric disease and treatment · 2017Review
- TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.American journal of human genetics · 2010Article
- Genome-wide linkage scan for loci associated with epilepsy in Belgian shepherd dogs.BMC genetics · 2010Article
- Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24.Epilepsia · 2002Article
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9 authors.
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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.
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