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Key clinical features to identify girls with CDKL5 mutations.
Bahi-Buisson N, Nectoux J, Rosas-Vargas H, Milh M, Boddaert N, Girard B, Cances C, Ville D, Afenjar A, Rio M, Héron D, N'guyen Morel MA, Arzimanoglou A, Philippe C, Jonveaux P, Chelly J, Bienvenu T. Bahi-Buisson N, et al. Brain. 2008 Oct;131(Pt 10):2647-61. doi: 10.1093/brain/awn197. Epub 2008 Sep 12. Brain. 2008. PMID: 18790821
[Epilepsy in chromosome aberrations].
Bahi-Buisson N, Ville D, Eisermann M, Plouin P, Kaminska A, Chiron C. Bahi-Buisson N, et al. Arch Pediatr. 2005 Apr;12(4):449-58. doi: 10.1016/j.arcped.2004.12.016. Arch Pediatr. 2005. PMID: 15808438 Review. French.
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
Barnérias C, Giurgea I, Hertz-Pannier L, Bahi-Buisson N, Boddaert N, Rustin P, Rotig A, Desguerre I, Munnich A, de Lonlay P. Barnérias C, et al. Dev Med Child Neurol. 2006 Mar;48(3):227-30. doi: 10.1017/S001216220600048X. Dev Med Child Neurol. 2006. PMID: 16483401 Free article.
Epilepsy in Menkes disease: analysis of clinical stages.
Bahi-Buisson N, Kaminska A, Nabbout R, Barnerias C, Desguerre I, De Lonlay P, Mayer M, Plouin P, Dulac O, Chiron C. Bahi-Buisson N, et al. Epilepsia. 2006 Feb;47(2):380-6. doi: 10.1111/j.1528-1167.2006.00432.x. Epilepsia. 2006. PMID: 16499764 Free article.
Early pattern of epilepsy in the ring chromosome 20 syndrome.
Ville D, Kaminska A, Bahi-Buisson N, Biraben A, Plouin P, Telvi L, Dulac O, Chiron C. Ville D, et al. Epilepsia. 2006 Mar;47(3):543-9. doi: 10.1111/j.1528-1167.2006.00465.x. Epilepsia. 2006. PMID: 16529619 Free article.
[Update on the genetics of X-linked mental retardation].
Bahi-Buisson N, Chelly J, des Portes V. Bahi-Buisson N, et al. Rev Neurol (Paris). 2006 Oct;162(10):952-63. doi: 10.1016/s0035-3787(06)75105-0. Rev Neurol (Paris). 2006. PMID: 17028563 Review. French.
Parental view of epilepsy in Rett Syndrome.
Bahi-Buisson N, Guellec I, Nabbout R, Guet A, Nguyen G, Dulac O, Chiron C. Bahi-Buisson N, et al. Brain Dev. 2008 Feb;30(2):126-30. doi: 10.1016/j.braindev.2007.07.002. Epub 2007 Aug 17. Brain Dev. 2008. PMID: 17707604
206 results