Literature DB >> 16504478

Evaluation of CACNA1H in European patients with childhood absence epilepsy.

Barry Chioza1, Kate Everett, Harald Aschauer, Oebele Brouwer, Petra Callenbach, Athanasios Covanis, Olivier Dulac, Martina Durner, Orvar Eeg-Olofsson, Martha Feucht, Mogens Friis, Armin Heils, Marianne Kjeldsen, Katrin Larsson, Anna-Elina Lehesjoki, Rima Nabbout, Ingrid Olsson, Thomas Sander, Auli Sirén, Robert Robinson, Michele Rees, R Mark Gardiner.   

Abstract

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.

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Year:  2006        PMID: 16504478     DOI: 10.1016/j.eplepsyres.2006.01.009

Source DB:  PubMed          Journal:  Epilepsy Res        ISSN: 0920-1211            Impact factor:   3.045


  11 in total

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Authors:  Danielle M Andrade
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4.  Rebound burst firing in the reticular thalamus is not essential for pharmacological absence seizures in mice.

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Journal:  Proc Natl Acad Sci U S A       Date:  2014-07-28       Impact factor: 11.205

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Authors:  Ruth Ottman; Shinichi Hirose; Satish Jain; Holger Lerche; Iscia Lopes-Cendes; Jeffrey L Noebels; José Serratosa; Federico Zara; Ingrid E Scheffer
Journal:  Epilepsia       Date:  2010-01-19       Impact factor: 5.864

6.  Linkage and association analysis of CACNG3 in childhood absence epilepsy.

Authors:  Kate V Everett; Barry Chioza; Jean Aicardi; Harald Aschauer; Oebele Brouwer; Petra Callenbach; Athanasios Covanis; Olivier Dulac; Orvar Eeg-Olofsson; Martha Feucht; Mogens Friis; Françoise Goutieres; Renzo Guerrini; Armin Heils; Marianne Kjeldsen; Anna-Elina Lehesjoki; Andrew Makoff; Rima Nabbout; Ingrid Olsson; Thomas Sander; Auli Sirén; Paul McKeigue; Robert Robinson; Nichole Taske; Michele Rees; Mark Gardiner
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7.  Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility.

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Authors:  Ute I Scholl; Gabriel Stölting; Carol Nelson-Williams; Alfred A Vichot; Murim Choi; Erin Loring; Manju L Prasad; Gerald Goh; Tobias Carling; C Christofer Juhlin; Ivo Quack; Lars C Rump; Anne Thiel; Marc Lande; Britney G Frazier; Majid Rasoulpour; David L Bowlin; Christine B Sethna; Howard Trachtman; Christoph Fahlke; Richard P Lifton
Journal:  Elife       Date:  2015-04-24       Impact factor: 8.713

9.  Behavior training reverses asymmetry in hippocampal transcriptome of the cav3.2 knockout mice.

Authors:  Ni-Chun Chung; Ying-Hsueh Huang; Chuan-Hsiung Chang; James C Liao; Chih-Hsien Yang; Chien-Chang Chen; Ingrid Y Liu
Journal:  PLoS One       Date:  2015-03-13       Impact factor: 3.240

10.  CaV3.2 calcium channels control NMDA receptor-mediated transmission: a new mechanism for absence epilepsy.

Authors:  Guangfu Wang; Genrieta Bochorishvili; Yucai Chen; Kathryn A Salvati; Peng Zhang; Steve J Dubel; Edward Perez-Reyes; Terrance P Snutch; Ruth L Stornetta; Karl Deisseroth; Alev Erisir; Slobodan M Todorovic; Jian-Hong Luo; Jaideep Kapur; Mark P Beenhakker; J Julius Zhu
Journal:  Genes Dev       Date:  2015-07-15       Impact factor: 12.890

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