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How mutations in the nAChRs can cause ADNFLE epilepsy.
Bertrand D, Picard F, Le Hellard S, Weiland S, Favre I, Phillips H, Bertrand S, Berkovic SF, Malafosse A, Mulley J. Bertrand D, et al. Among authors: mulley j. Epilepsia. 2002;43 Suppl 5:112-22. doi: 10.1046/j.1528-1157.43.s.5.16.x. Epilepsia. 2002. PMID: 12121305 Free article.
Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore.
Hoda JC, Gu W, Friedli M, Phillips HA, Bertrand S, Antonarakis SE, Goudie D, Roberts R, Scheffer IE, Marini C, Patel J, Berkovic SF, Mulley JC, Steinlein OK, Bertrand D. Hoda JC, et al. Among authors: mulley jc. Mol Pharmacol. 2008 Aug;74(2):379-91. doi: 10.1124/mol.107.044545. Epub 2008 May 2. Mol Pharmacol. 2008. PMID: 18456869
Channelopathies as a genetic cause of epilepsy.
Mulley JC, Scheffer IE, Petrou S, Berkovic SF. Mulley JC, et al. Curr Opin Neurol. 2003 Apr;16(2):171-6. doi: 10.1097/01.wco.0000063767.15877.c7. Curr Opin Neurol. 2003. PMID: 12644745 Review.
Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12.
Berkovic SF, Serratosa JM, Phillips HA, Xiong L, Andermann E, Díaz-Otero F, Gómez-Garre P, Martín M, Fernández-Bullido Y, Andermann F, Lopes-Cendes I, Dubeau F, Desbiens R, Scheffer IE, Wallace RH, Mulley JC, Pandolfo M. Berkovic SF, et al. Epilepsia. 2004 Sep;45(9):1054-60. doi: 10.1111/j.0013-9580.2004.30502.x. Epilepsia. 2004. PMID: 15329069 Free article.
297 results