Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6

Weissbecker, Karen; Durner, Martina; Janz, Diéter; Scaramelli, A.; Sparkes, Robert S.; Spence, M. Anne

doi:10.1002/ajmg.1320380109

Cited by 140 publications

(83 citation statements)

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“…Paralleling this are studies documenting substantial genetic influences in human epilepsy ; Leppert et al 1991;Weissbecker et al 1991;Greenberg et al 1992).…”

mentioning

confidence: 79%

Acute Cocaine-Induced Seizures Differential Sensitivity of Six Inbred Mouse Strains

Golden

2001

Neuropsychopharmacology

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Mature male and female mice from six inbred stains were tested for susceptibility to behavioral seizures induced by a single injection of cocaine. Cocaine was injected ip over a range of doses (50-100 mg/kg) Animal models provide fundamental information regarding seizure mechanisms (Jobe et al. 1973;Taylor 1976;Seyfried and Glaser 1985;Golden et al. 1991Golden et al. , 1995 and studies of inbred murine strains in particular (Engstrom and Woodbury 1988;Kosobud and Crabbe 1990;Kosobud et al. 1992;Ferraro et al. 1993Ferraro et al. , 1997Frankel et al. 1995b) have yielded considerable information regarding genetic influences on seizure susceptibility. Paralleling this are studies documenting substantial genetic influences in human epilepsy Leppert et al. 1991;Weissbecker et al. 1991;Greenberg et al. 1992).Cocaine abuse is associated with multiple forms of toxicity and seizures represent a major source of cocaine-induced fatalities (Jonosson et al. 1983;Myers and Earnest 1984;Alldredge, Lowenstein et al. 1989;Choy-Kwong and Lipton 1989;Ernst and Sanders 1989;Ogunyemi et al. 1989;Schwartz 1989; Albertson 1989a, 1989b;Dhuna and Pascual-Leone 1990;Dhuna et al. 1991;Holland et al. 1992;Tseng et al. 1992) with eleven percent of substance abusers reporting seizures related to cocaine use (Washton and Tatarsky 1983). As the number of users of cocaine in the U.S.A. exceeds 1.5 million (Park 1997) it can be estimated that approximately 100,000 individuals have experienced cocaine-induced seizures.The present study represents a systematic strain investigation of acute cocaine-induced seizure sensitivity, a complex trait having genetic and environmental influences. By testing a number of mouse inbred strains for susceptibility to acute cocaine-induced seizures, this study lays the foundation for genetic mapping of specific genes involved in the expression of this complex trait. Because seizure phenomena show striking parallels between mice and humans, and because extensive NO . 3 genetic homology exists between these two species, localization of genes involved in sensitivity to cocaine induced seizures will provide an inroad for studying genetic influence in human drug abuse. The results of this study identify A/J and SJL strains of mice as sensitive to the acute seizure-inducing effect of cocaine whereas C57 mice are significantly more resistant suggesting that these strains may be particularly useful for genetic dissection of this complex trait. MATERIALS AND METHODS AnimalsMature male and female mice from six inbred strains (The Jackson Laboratory, Bar Harbor, ME) were housed by gender (5-6/cage). All mice were housed separately in the Coatesville, VA, animal facility for a least one week prior to use. Mice were tested for susceptibility to seizures induced by an acute injection of cocaine. A total of 519 mice (C57BL/6J n ϭ 124, DBA/2J n ϭ 48, BALB/ n ϭ 48, SJ/L n ϭ 141, NZW/ n ϭ 37, A/J n ϭ 121) were tested for acute cocaine-induced seizures using ip injection of 50, 60, 70, 75, 80, 90 and 100 mg/kg of cocaine HCl. So...

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“…Paralleling this are studies documenting substantial genetic influences in human epilepsy ; Leppert et al 1991;Weissbecker et al 1991;Greenberg et al 1992).…”

mentioning

confidence: 79%

Acute Cocaine-Induced Seizures Differential Sensitivity of Six Inbred Mouse Strains

Golden

2001

Neuropsychopharmacology

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“…Several studies have published strong linkage signals for relatively large samples of families with more common forms of epilepsy [72][73][74][75][76][77]. It is almost certain that there are genes with large effects for common epilepsies.…”

Section: Other Studiesmentioning

confidence: 99%

“…Another connection between neural development and a common idiopathic epilepsy comes from BRD2, which is genetically linked to JME (LOD = 4.2) and to the epileptiform EEGs seen interictally both in JME patients and in some family members without seizures [72,73,85]. BRD2 on chromosome 6p21 was the first identified locus for a common epilepsy.…”

Section: Neural Developmentmentioning

confidence: 99%

The Genetics of Common Epilepsy Disorders: Lessons Learned from the Channelopathy Era

Subaran

Greenberg

2014

Curr Genet Med Rep

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Idiopathic epilepsies are thought to be almost entirely the result of genetic determinants, most of which remain undiscovered. It was once widely accepted that mutations that change the amino acid sequence of ion channel proteins were the major cause of these epilepsies, making epilepsy in general a ''channelopathy.'' Since then, more comprehensive analysis of ion channel-encoding genes has largely rejected this hypothesis for common forms of epilepsy. Here, we discuss some of the assumptions that led to the channelopathy hypothesis and propose ways to avoid similar mistakes going forward. We also offer insight into promising genetic candidates that we believe play a major role in susceptibility to common forms of idiopathic epilepsy.

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“…To date, seven independent loci have been genetically mapped for monogenic forms of epilepsy with clear Mendelian patterns of inheritance (Leppert et al 1989;Lehesjoki et al 1991;Lewis et al 1993;Tahvanainen et al 1994;Ottman et al 1995;Phillips et al 1995;Guipponi et al 1997). A subset of families for one of the multifactorial forms of epilepsy, juvenile myoclonic epilepsy, may be linked to chromosome 6p (Greenberg et al 1988;Durner et al 1991;Weissbecker et al 1991;Liu et al 1995). Moreover, evidence for involvement of a locus on chromosome 8q in idiopathic generalized epilepsy has been reported (Zara et al 1995).…”

mentioning

confidence: 99%

High-Resolution Mapping and Transcript Identification at the Progressive Epilepsy with Mental Retardation Locus on Chromosome 8p

Ranta¹,

Lehesjoki²,

Bonaldo³

et al. 1997

Genome Res.

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Progressive epilepsy with mental retardation (EPMR) is an autosomal recessive central nervous system disorder characterized by childhood onset epilepsy and subsequent mental retardation. The locus for EPMR has been mapped to human chromosome 8p23. We recently reported the construction of a YAC contig across the 4 centimorgan minimum genetic region that harbors the disease locus. We now report further delineation of the critical region to <700 kb. Our mapping strategy relied on the identification of nine novel microsatellite markers and the construction of a complete BAC contig across the critical region. Several partial gene sequences have been identified from the region and are being analyzed as candidate genes for EPMR.[The sequence data described in this paper have been submitted to the GenBank data library under accession nos. AF009188–AF009214.]

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Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6

Cited by 140 publications

References 12 publications

Acute Cocaine-Induced Seizures Differential Sensitivity of Six Inbred Mouse Strains

Acute Cocaine-Induced Seizures Differential Sensitivity of Six Inbred Mouse Strains

The Genetics of Common Epilepsy Disorders: Lessons Learned from the Channelopathy Era

High-Resolution Mapping and Transcript Identification at the Progressive Epilepsy with Mental Retardation Locus on Chromosome 8p

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