| pubmed-article:11104662 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11104662 | lifeskim:mentions | umls-concept:C0034792 | lld:lifeskim |
| pubmed-article:11104662 | lifeskim:mentions | umls-concept:C0085541 | lld:lifeskim |
| pubmed-article:11104662 | lifeskim:mentions | umls-concept:C0443147 | lld:lifeskim |
| pubmed-article:11104662 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:11104662 | lifeskim:mentions | umls-concept:C1413408 | lld:lifeskim |
| pubmed-article:11104662 | lifeskim:mentions | umls-concept:C0240526 | lld:lifeskim |
| pubmed-article:11104662 | lifeskim:mentions | umls-concept:C1711351 | lld:lifeskim |
| pubmed-article:11104662 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:11104662 | pubmed:dateCreated | 2001-1-26 | lld:pubmed |
| pubmed-article:11104662 | 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. | lld:pubmed |
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| pubmed-article:11104662 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11104662 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11104662 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:11104662 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11104662 | pubmed:month | Jan | lld:pubmed |
| pubmed-article:11104662 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:11104662 | pubmed:author | pubmed-author:BerkovicS FSF | lld:pubmed |
| pubmed-article:11104662 | pubmed:author | pubmed-author:BertrandDD | lld:pubmed |
| pubmed-article:11104662 | pubmed:author | pubmed-author:SutherlandG... | lld:pubmed |
| pubmed-article:11104662 | pubmed:author | pubmed-author:MulleyJ CJC | lld:pubmed |
| pubmed-article:11104662 | pubmed:author | pubmed-author:PhillipsH AHA | lld:pubmed |
| pubmed-article:11104662 | pubmed:author | pubmed-author:KirkpatrickMM | lld:pubmed |
| pubmed-article:11104662 | pubmed:author | pubmed-author:FavreII | lld:pubmed |
| pubmed-article:11104662 | pubmed:author | pubmed-author:GoudieDD | lld:pubmed |
| pubmed-article:11104662 | pubmed:author | pubmed-author:SchefferI EIE | lld:pubmed |
| pubmed-article:11104662 | pubmed:author | pubmed-author:HeronS ESE | lld:pubmed |
| pubmed-article:11104662 | pubmed:author | pubmed-author:ZuberiS MSM | lld:pubmed |
| pubmed-article:11104662 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11104662 | pubmed:volume | 68 | lld:pubmed |
| pubmed-article:11104662 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11104662 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11104662 | pubmed:pagination | 225-31 | lld:pubmed |
| pubmed-article:11104662 | pubmed:dateRevised | 2010-1-13 | lld:pubmed |
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| pubmed-article:11104662 | pubmed:year | 2001 | lld:pubmed |
| pubmed-article:11104662 | pubmed:articleTitle | CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. | lld:pubmed |
| pubmed-article:11104662 | pubmed:affiliation | Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women's and Children's Hospital, North Adelaide, SA 5006, Australia. | lld:pubmed |
| pubmed-article:11104662 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:11104662 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:11104662 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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