Evaluation of CACNA1H in European patients with childhood absence epilepsy

被引：26

作者：

Chioza, Barry

Everett, Kate

Aschauer, Harald

Brouwer, Oebele

Callenbach, Petra

Covanis, Athanasios

Dulac, Olivier

Durner, Martina

Eeg-Olofsson, Orvar

Feucht, Martha

Friis, Mogens

Heils, Armin

Kjeldsen, Marianne

Larsson, Katrin

Lehesjoki, Anna-Elina

Nabbout, Rima

Olsson, Ingrid

Sander, Thomas

Sirén, Auli

Robinson, Robert

Rees, Michele

Gardiner, R. Mark

机构：

[1] UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, England

[2] Med Univ Vienna, Dept Psychiat, Vienna, Austria

[3] Univ Groningen, Med Ctr, Dept Neurol, NL-9700 RB Groningen, Netherlands

[4] Aghia Sophia Childrens Hosp, Dept Neurol, Athens 11527, Greece

[5] Hop St Vincent de Paul, F-75674 Paris 14, France

[6] Columbia Univ, Div Stat Genet, New York, NY 10032 USA

[7] Uppsala Univ, Dept Womens & Childrens Hlth, Uppsala, Sweden

[8] Med Univ Vienna, Dept Paediat, Vienna, Austria

[9] Odense Univ Hosp, Dept Neurol, Epilepsy Clin, DK-5000 Odense C, Denmark

[10] Sygehus Vestsjaelland, Dept Neurol, DK-4300 Holbaek, Denmark

[11] Univ Bonn, Clin Epileptol, Bonn, Germany

[12] Univ Bonn, Inst Human Genet, Bonn, Germany

[13] Univ Helsinki, Biomedicum Helsinki, Folkhalsan Inst Genet, FIN-00014 Helsinki, Finland

[14] Univ Helsinki, Ctr Neurosci, FIN-00014 Helsinki, Finland

[15] Queen Silvia Childrens Hosp, Neuropaediat Unit, S-41685 Gothenburg, Sweden

[16] Max Delbruck Ctr Mol Med, Gene Mapping Ctr, D-13125 Berlin, Germany

[17] Tampere Univ Hosp, Dept Paediat, Tampere, Finland

来源：

EPILEPSY RESEARCH | 2006年 / 69卷 / 02期

基金：

英国惠康基金; 英国医学研究理事会;

关键词：

childhood absence epilepsy; CACNA1H; linkage; sequence variants;

D O I：

10.1016/j.eplepsyres.2006.01.009

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

CACNA1H was evaluated in a resource of Caucasian European patients with childhood absence epilepsy by linkage analysis and typing of sequence variants previously identified in Chinese patients. Linkage analysis of 44 pedigrees provided no evidence for a locus in the CACNA1H region and none of the Chinese variants were found in 220 unrelated patients. (c) 2006 Elsevier B.V. All rights reserved.

引用

页码：177 / 181

页数：5

共 21 条

[1] Association between genetic variation of CACNA1H and childhood absence epilepsy [J].