Linked Life Data

18823326

Source:http://linkedlifedata.com/resource/pubmed/id/18823326

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2009-6-8
pubmed:databankReference
pubmed:abstractText
Juvenile myoclonic epilepsy (JME) accounts for 3 to 12% of all epilepsies. In 2004, we identified a mutation-harboring Mendelian gene that encodes a protein with one EF-hand motif (EFHC1) in chromosome 6p12. We observed one doubly heterozygous and three heterozygous missense mutations in EFHC1 segregating as an autosomal dominant gene with 21 affected members of six Hispanic JME families from California and Mexico. In 2006, similar and three novel missense mutations were reported in sporadic and familial Caucasian JME from Italy and Austria. In this study, we asked if coding single nucleotide polymorphisms (SNPs) of EFHC1 also contribute as susceptibility alleles to JME with complex genetics.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1528-1167
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
50
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1184-90
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.
pubmed:affiliation
Epilepsy Genetics/Genomics Lab, CEP, UCLA & VA GLAHS, Los Angeles, California 90073, USA.
pubmed:publicationType
Journal Article, Research Support, N.I.H., Extramural