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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2001-1-26
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pubmed:abstractText |
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, idiopathic partial epilepsy characterized by clusters of motor seizures occurring in sleep. We describe a mutation of the beta2 subunit of the nicotinic acetylcholine receptor, effecting a V287M substitution within the M2 domain. The mutation, in an evolutionary conserved region of CHRNB2, is associated with ADNFLE in a Scottish family. Functional receptors with the V287M mutation are highly expressed in Xenopus oocytes and characterized by an approximately 10-fold increase in acetylcholine sensitivity. CHRNB2 is a new gene for idiopathic epilepsy, the second acetylcholine receptor subunit implicated in ADNFLE.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/11104662-10448807,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11104662-10563623,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11104662-10704672,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11104662-10802757,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11104662-10939581,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11104662-11062464,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11104662-2005979,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11104662-2040627,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11104662-2530914,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11104662-7508983,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11104662-7550350,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11104662-7690916,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11104662-7721089,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11104662-7895015,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11104662-8946959,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11104662-9175743,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11104662-9364050,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11104662-9549500,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11104662-9758605,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11104662-9831911,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11104662-9921897
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0002-9297
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pubmed:author |
pubmed-author:BerkovicS FSF,
pubmed-author:BertrandDD,
pubmed-author:FavreII,
pubmed-author:GoudieDD,
pubmed-author:HeronS ESE,
pubmed-author:KirkpatrickMM,
pubmed-author:MulleyJ CJC,
pubmed-author:PhillipsH AHA,
pubmed-author:SchefferI EIE,
pubmed-author:SutherlandG RGR,
pubmed-author:ZuberiS MSM
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pubmed:issnType |
Print
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pubmed:volume |
68
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
225-31
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pubmed:dateRevised |
2010-1-13
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pubmed:meshHeading |
pubmed-meshheading:11104662-Acetylcholine,
pubmed-meshheading:11104662-Amino Acid Sequence,
pubmed-meshheading:11104662-Amino Acid Substitution,
pubmed-meshheading:11104662-Animals,
pubmed-meshheading:11104662-Base Sequence,
pubmed-meshheading:11104662-Child,
pubmed-meshheading:11104662-Conserved Sequence,
pubmed-meshheading:11104662-Electric Conductivity,
pubmed-meshheading:11104662-Epilepsy, Frontal Lobe,
pubmed-meshheading:11104662-Female,
pubmed-meshheading:11104662-Genes, Dominant,
pubmed-meshheading:11104662-Humans,
pubmed-meshheading:11104662-Male,
pubmed-meshheading:11104662-Molecular Sequence Data,
pubmed-meshheading:11104662-Mutation,
pubmed-meshheading:11104662-Oocytes,
pubmed-meshheading:11104662-Pedigree,
pubmed-meshheading:11104662-Protein Subunits,
pubmed-meshheading:11104662-Receptors, Nicotinic,
pubmed-meshheading:11104662-Scotland,
pubmed-meshheading:11104662-Seizures,
pubmed-meshheading:11104662-Sleep Disorders,
pubmed-meshheading:11104662-Xenopus laevis
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pubmed:year |
2001
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pubmed:articleTitle |
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.
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pubmed:affiliation |
Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women's and Children's Hospital, North Adelaide, SA 5006, Australia.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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