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A new locus for autosomal dominant generalized epilepsy associated with mild mental retardation on chromosome 3p: Novel Epilepsy Locus on Chromosome 3

Blair, Marcia A., Abou-Khalil, Bassel, Crunk, Amy, Haines, Jonathan L., Hedera, Peter·2011·Epilepsia
DOI 10.1111/j.1528-1167.2011.03059.x
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Research works printed but not linked: 26

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  2. Caplan, 2008, Childhood absence epilepsy: behavioral, cognitive, and linguistic comorbidities, Epilepsia, 49, 1838, 10.1111/j.1528-1167.2008.01680.x · DOI
  3. Chen, 2003, Association between genetic variation of CACNA1H and childhood absence epilepsy, Ann Neurol, 54, 239, 10.1002/ana.10607 · DOI
  4. Chioza, 2009, Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14, Epilepsy Res, 87, 247, 10.1016/j.eplepsyres.2009.09.010 · DOI
  5. Cossette, 2002, Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy, Nat Genet, 31, 184, 10.1038/ng885 · DOI
  6. Durner, 2001, Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type, Ann Neurol, 49, 328, 10.1002/ana.69 · DOI
  7. Escayg, 2000, Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia, Am J Hum Genet, 66, 1531, 10.1086/302909 · DOI
  8. Freitag, 2001, Incidence of epilepsies and epileptic syndromes in children and adolescents: a population-based prospective study in Germany, Epilepsia, 42, 979, 10.1046/j.1528-1157.2001.042008979.x · DOI
  9. Gourfinkel-An, 2004, Monogenic idiopathic epilepsies, Lancet Neurol, 3, 209, 10.1016/S1474-4422(04)00706-9 · DOI
  10. Gutierrez-Delicado, 2004, Genetics of the epilepsies, Curr Opin Neurol, 17, 147, 10.1097/00019052-200404000-00011 · DOI
  11. Italian League Against Epilepsy Genetic Collaborative Group, 1993, Concordance of clinical forms of epilepsy in families with several affected members, Epilepsia, 34, 819, 10.1111/j.1528-1157.1993.tb02096.x · DOI
  12. Janz, 1992, Do idiopathic generalized epilepsies share a common susceptibility gene?, Neurology, 42, 48
  13. Kapoor, 2008, An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene, Ann Neurol, 64, 158, 10.1002/ana.21428 · DOI
  14. Kleefuss-Lie, 2009, CLCN2 variants in idiopathic generalized epilepsy, Nat Genet, 41, 954, 10.1038/ng0909-954 · DOI
  15. Koutroumanidis, 2005, Use and abuse of EEG in the diagnosis of idiopathic generalized epilepsies, Epilepsia, 46, 96, 10.1111/j.1528-1167.2005.00320.x · DOI
  16. Leussis, 2006, Routine tail suspension husbandry facilitates onset of seizure susceptibility in EL mice, Epilepsia, 47, 801, 10.1111/j.1528-1167.2006.00525.x · DOI
  17. Marini, 2004, Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families, Epilepsia, 45, 467, 10.1111/j.0013-9580.2004.46803.x · DOI
  18. Matsumoto, 2007, Epilepsy in severe motor and intellectual disabilities syndrome (SMIDS) - a clinical and electroencephalographic study of epileptic syndromes, Epilepsy Res, 77, 120, 10.1016/j.eplepsyres.2007.09.006 · DOI
  19. Mosewich, 1996, A clinical approach to the classification of seizures and epileptic syndromes, Mayo Clin Proc, 71, 405, 10.4065/71.4.405 · DOI
  20. Riviello, 2003, Classification of seizures and epilepsy, Curr Neurol Neurosci Rep, 3, 325, 10.1007/s11910-003-0010-4 · DOI
  21. Saint-Martin, 2009, Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy, Hum Mutat, 30, 397, 10.1002/humu.20876 · DOI
  22. Seyfried, 1999, Experimental models of multifactorial epilepsies: the EL mouse and mice susceptible to audiogenic seizures, Adv Neurol, 79, 279
  23. Suzuki, 2004, Mutations in EFHC1 cause juvenile myoclonic epilepsy, Nat Genet, 36, 842, 10.1038/ng1393 · DOI
  24. Todorova, 2006, Genetic and environmental interactions determine seizure susceptibility in epileptic EL mice, Genes Brain Behav, 5, 518, 10.1111/j.1601-183X.2006.00204.x · DOI
  25. Weber, 2008, Genetic mechanisms in idiopathic epilepsies, Dev Med Child Neurol, 50, 648, 10.1111/j.1469-8749.2008.03058.x · DOI
  26. Williamson, 2009, Generalized-onset seizures with secondary focal evolution, Epilepsia, 50, 1827, 10.1111/j.1528-1167.2009.02045.x · DOI

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Metadata

Authors
Blair, M. A., Abou-Khalil, B., Crunk, A., Haines, J. L., & Hedera, P.
Venue
Epilepsia
Publisher
Wiley
Published
2011-04-11
Volume
52
Issue
5
Pages
993-999
ISSN
0013-9580
DOI
10.1111/j.1528-1167.2011.03059.x
Cited by
5
References
0
Language
en
Licence
doi.wiley.com/10.1002/tdm_license_1.1 (tdm, 1604 d)

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