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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: buresi c. 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: buresi c. 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: buresi c. Epilepsia. 2003 Oct;44(10):1357-60. doi: 10.1046/j.1528-1157.2003.03703.x. Epilepsia. 2003. PMID: 14510831 Free article.
A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.
Lalioti MD, Scott HS, Genton P, Grid D, Ouazzani R, M'Rabet A, Ibrahim S, Gouider R, Dravet C, Chkili T, Bottani A, Buresi C, Malafosse A, Antonarakis SE. Lalioti MD, et al. Among authors: buresi c. Am J Hum Genet. 1998 Apr;62(4):842-7. doi: 10.1086/301798. Am J Hum Genet. 1998. PMID: 9529356 Free PMC article.
GABA receptor 1 polymorphism (G1465A) and temporal lobe epilepsy.
Salzmann A, Moulard B, Crespel A, Baldy-Moulinier M, Buresi C, Malafosse A. Salzmann A, et al. Among authors: buresi c. Epilepsia. 2005 Jun;46(6):931-3. doi: 10.1111/j.1528-1167.2005.40304.x. Epilepsia. 2005. PMID: 15946333 Free article.
46 results