ArticleAmerican journal of human genetics1995
Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
26 citing papers in PubMed, 123 citations in OpenAlex.
- Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.Epilepsia · 2015Article
- Article
- Molecular mechanisms of cognitive and behavioral comorbidities of epilepsy in children.Epilepsia · 2011Review
- A locus for juvenile myoclonic epilepsy maps to 2q33-q36.Human genetics · 2010Article
- DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.Epilepsia · 2009Article
- Cortical thickness abnormality in juvenile myoclonic epilepsy.Journal of neurology · 2008Article
- Review
- The state of the art in the genetic analysis of the epilepsies.Current neurology and neuroscience reports · 2007Review
- A novel genetic locus for juvenile myoclonic epilepsy at chromosome 5q12-q14.Human genetics · 2007Article
- Complex inheritance and parent-of-origin effect in juvenile myoclonic epilepsy.Brain & development · 2006Article
- Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.Proceedings of the National Academy of Sciences of the United States of America · 2005Article
- Search for alpha4 and alpha7 nicotinic acetylcholine receptor markers in a pedigree of benign familial infantile convulsions (BFIC).Neurochemical research · 2002Article
- Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24.Epilepsia · 2002Article
- Genetics of inherited human epilepsies.Dialogues in clinical neuroscience · 2001Article
- Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.American journal of human genetics · 2000Article
- Reproducibility and complications in gene searches: linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy.American journal of human genetics · 2000Article
- Mapping loci for pentylenetetrazol-induced seizure susceptibility in mice.The Journal of neuroscience : the official journal of the Society for Neuroscience · 1999Article
- Mapping quantitative trait loci for seizure response to a GABAA receptor inverse agonist in mice.The Journal of neuroscience : the official journal of the Society for Neuroscience · 1999Article
- Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24.American journal of human genetics · 1998Article
- Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.American journal of human genetics · 1997Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Despite affecting 4 million Americans and 100-200 million persons worldwide, the precise molecular mechanisms of human epilepsies remain unknown. Juvenile myoclonic epilepsy (JME) is the most frequent and, hence, most important form of hereditary grand mal epilepsy. In this epilepsy, electroencephalographic (EEG) 15-30-Hz multispikes produce myoclonic and tonic-clonic convulsions beginning at 8-20 years of age. Moreover, EEG 3.5-6-Hz multispike wave complexes appear in clinically asymptomatic family members. We first studied 38 members of a four-generation LA-Belize family with classical JME but with no pyknoleptic absences. Five living members had JME; four clinically asymptomatic members had EEG multispike wave complexes. Pairwise analysis tightly linked microsatellites centromeric to HLA, namely D6S272 (peak lod score [Zmax] = 3.564-3.560 at male-female recombination [theta m = f] = 0-.001) and D6S257 (Zmax = 3.672-3.6667 at theta m = f = 0-.001), spanning 7 cM, to convulsive seizures and EEG multispike wave complexes. A recombination between D6S276 and D6S273 in one affected member placed the JME locus within or below HLA. Pairwise, multipoint, and recombination analyses in this large family independently proved that a JME gene is located in chromosome 6p, centromeric to HLA. We next screened, with the same chromosome 6p21.2-p11 short tandem-repeat polymorphic markers, seven multiplex pedigrees with classic JME. When lod scores for small multiplex families are added to lod scores of the LA-Belize pedigree, Zmax values for D6S294 and D6S257 are > 7 (theta m = f = .000). Our results prove that in chromosome 6p21.2-p11 an epilepsy locus exists whose phenotype consists of classic JME with convulsions and/or EEG rapid multispike wave complexes.
Indexed as
Identifiers
7668263PMC1801565W2142110320What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.