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Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.
Salzmann A, Guipponi M, Lyons PJ, Fricker LD, Sapio M, Lambercy C, Buresi C, Ouled Amar Bencheikh B, Lahjouji F, Ouazzani R, Crespel A, Chaigne D, Malafosse A. Salzmann A, et al. Among authors: malafosse a. Hum Mutat. 2012 Jan;33(1):124-35. doi: 10.1002/humu.21613. Epub 2011 Oct 31. Hum Mutat. 2012. PMID: 21922598
Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.
Moulard B, Genton P, Grid D, Jeanpierre M, Ouazzani R, Mrabet A, Morris M, LeGuern E, Dravet C, Mauguière F, Utermann B, Baldy-Moulinier M, Belaidi H, Bertran F, Biraben A, Ali Chérif A, Chkili T, Crespel A, Darcel F, Dulac O, Geny C, Humbert-Claude V, Kassiotis P, Buresi C, Malafosse A. Moulard B, et al. Among authors: malafosse a. Hum Genet. 2002 Sep;111(3):255-62. doi: 10.1007/s00439-002-0755-x. Epub 2002 Jul 23. Hum Genet. 2002. PMID: 12215838
FOunder effect in patients with Unverricht-Lundborg disease on reunion island.
Moulard B, Darcel F, Mignard D, Jeanpierre M, Genton P, Cartault F, Yaouanq J, Roubertie A, Biraben A, Buresi C, Malafosse A. Moulard B, et al. Among authors: malafosse a. Epilepsia. 2003 Oct;44(10):1357-60. doi: 10.1046/j.1528-1157.2003.03703.x. Epilepsia. 2003. PMID: 14510831 Free article.
Ion channel variation causes epilepsies.
Moulard B, Picard F, le Hellard S, Agulhon C, Weiland S, Favre I, Bertrand S, Malafosse A, Bertrand D. Moulard B, et al. Among authors: malafosse a. Brain Res Brain Res Rev. 2001 Oct;36(2-3):275-84. doi: 10.1016/s0165-0173(01)00104-7. Brain Res Brain Res Rev. 2001. PMID: 11690625 Review.
166 results