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Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.
Tan C, Shard C, Ranieri E, Hynes K, Pham DH, Leach D, Buchanan G, Corbett M, Shoubridge C, Kumar R, Douglas E, Nguyen LS, Mcmahon J, Sadleir L, Specchio N, Marini C, Guerrini R, Moller RS, Depienne C, Haan E, Thomas PQ, Berkovic SF, Scheffer IE, Gecz J. Tan C, et al. Among authors: marini c. Hum Mol Genet. 2015 Sep 15;24(18):5250-9. doi: 10.1093/hmg/ddv245. Epub 2015 Jun 29. Hum Mol Genet. 2015. PMID: 26123493
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: marini c. 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.
EEG in adult-onset idiopathic generalized epilepsy.
Yenjun S, Harvey AS, Marini C, Newton MR, King MA, Berkovic SF. Yenjun S, et al. Among authors: marini c. Epilepsia. 2003 Feb;44(2):252-6. doi: 10.1046/j.1528-1157.2003.26402.x. Epilepsia. 2003. PMID: 12558583 Free article.
835 results