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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: harkin la. 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. Among authors: harkin la. Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:R243-9. doi: 10.1093/hmg/ddi355. Hum Mol Genet. 2005. PMID: 16244322 Review.
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.
Scheffer IE, Harkin LA, Grinton BE, Dibbens LM, Turner SJ, Zielinski MA, Xu R, Jackson G, Adams J, Connellan M, Petrou S, Wellard RM, Briellmann RS, Wallace RH, Mulley JC, Berkovic SF. Scheffer IE, et al. Among authors: harkin la. Brain. 2007 Jan;130(Pt 1):100-9. doi: 10.1093/brain/awl272. Epub 2006 Oct 4. Brain. 2007. PMID: 17020904
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: harkin la. 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.
25 results