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Page 1
Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy.
Bowser DN, Wagner DA, Czajkowski C, Cromer BA, Parker MW, Wallace RH, Harkin LA, Mulley JC, Marini C, Berkovic SF, Williams DA, Jones MV, Petrou S. Bowser DN, et al. Among authors: mulley jc. Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):15170-5. doi: 10.1073/pnas.212320199. Epub 2002 Nov 1. Proc Natl Acad Sci U S A. 2002. PMID: 12415111 Free PMC article.
Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy.
Tan HO, Reid CA, Single FN, Davies PJ, Chiu C, Murphy S, Clarke AL, Dibbens L, Krestel H, Mulley JC, Jones MV, Seeburg PH, Sakmann B, Berkovic SF, Sprengel R, Petrou S. Tan HO, et al. Among authors: mulley jc. Proc Natl Acad Sci U S A. 2007 Oct 30;104(44):17536-41. doi: 10.1073/pnas.0708440104. Epub 2007 Oct 18. Proc Natl Acad Sci U S A. 2007. PMID: 17947380 Free PMC article.
Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.
Xu R, Thomas EA, Gazina EV, Richards KL, Quick M, Wallace RH, Harkin LA, Heron SE, Berkovic SF, Scheffer IE, Mulley JC, Petrou S. Xu R, et al. Among authors: mulley jc. Neuroscience. 2007 Aug 10;148(1):164-74. doi: 10.1016/j.neuroscience.2007.05.038. Epub 2007 Jul 12. Neuroscience. 2007. PMID: 17629415
Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.
Marini C, Scheffer IE, Crossland KM, Grinton BE, Phillips FL, McMahon JM, Turner SJ, Dean JT, Kivity S, Mazarib A, Neufeld MY, Korczyn AD, Harkin LA, Dibbens LM, Wallace RH, Mulley JC, Berkovic SF. Marini C, et al. Among authors: mulley jc. Epilepsia. 2004 May;45(5):467-78. doi: 10.1111/j.0013-9580.2004.46803.x. Epilepsia. 2004. PMID: 15101828 Free article.
Susceptibility genes for complex epilepsy.
Mulley JC, Scheffer IE, Harkin LA, Berkovic SF, Dibbens LM. Mulley JC, et al. Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:R243-9. doi: 10.1093/hmg/ddi355. Hum Mol Genet. 2005. PMID: 16244322 Review.
261 results