Bahi-Buisson N - Search Results

1

Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy.

Nectoux J, Girard B, Bahi-Buisson N, Prieur F, Afenjar A, Rosas-Vargas H, Chelly J, Bienvenu T. Nectoux J, et al. Pediatr Neurol. 2007 Oct;37(4):270-4. doi: 10.1016/j.pediatrneurol.2007.06.002. Pediatr Neurol. 2007. PMID: 17903671

2

[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.

3

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

4

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.

Rosas-Vargas H, Bahi-Buisson N, Philippe C, Nectoux J, Girard B, N'Guyen Morel MA, Gitiaux C, Lazaro L, Odent S, Jonveaux P, Chelly J, Bienvenu T. Rosas-Vargas H, et al. J Med Genet. 2008 Mar;45(3):172-8. doi: 10.1136/jmg.2007.053504. Epub 2007 Nov 9. J Med Genet. 2008. PMID: 17993579

5

Spectrum of epilepsy in terminal 1p36 deletion syndrome.

Bahi-Buisson N, Guttierrez-Delicado E, Soufflet C, Rio M, Daire VC, Lacombe D, Héron D, Verloes A, Zuberi S, Burglen L, Afenjar A, Moutard ML, Edery P, Novelli A, Bernardini L, Dulac O, Nabbout R, Plouin P, Battaglia A. Bahi-Buisson N, et al. Epilepsia. 2008 Mar;49(3):509-15. doi: 10.1111/j.1528-1167.2007.01424.x. Epub 2007 Nov 21. Epilepsia. 2008. PMID: 18031548 Free article.

6

The three stages of epilepsy in patients with CDKL5 mutations.

Bahi-Buisson N, Kaminska A, Boddaert N, Rio M, Afenjar A, Gérard M, Giuliano F, Motte J, Héron D, Morel MA, Plouin P, Richelme C, des Portes V, Dulac O, Philippe C, Chiron C, Nabbout R, Bienvenu T. Bahi-Buisson N, et al. Epilepsia. 2008 Jun;49(6):1027-37. doi: 10.1111/j.1528-1167.2007.01520.x. Epub 2008 Feb 7. Epilepsia. 2008. PMID: 18266744 Free article.

7

The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome.

Nectoux J, Bahi-Buisson N, Guellec I, Coste J, De Roux N, Rosas H, Tardieu M, Chelly J, Bienvenu T. Nectoux J, et al. Neurology. 2008 May 27;70(22 Pt 2):2145-51. doi: 10.1212/01.wnl.0000304086.75913.b2. Epub 2008 Apr 23. Neurology. 2008. PMID: 18434641

8

Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy.

Poirier K, Eisermann M, Caubel I, Kaminska A, Peudonnier S, Boddaert N, Saillour Y, Dulac O, Souville I, Beldjord C, Lascelles K, Plouin P, Chelly J, Bahi-Buisson N. Poirier K, et al. Epilepsy Res. 2008 Aug;80(2-3):224-8. doi: 10.1016/j.eplepsyres.2008.03.019. Epub 2008 May 12. Epilepsy Res. 2008. PMID: 18468866

9

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.

Rejeb I, Saillour Y, Castelnau L, Julien C, Bienvenu T, Taga P, Chaabouni H, Chelly J, Ben Jemaa L, Bahi-Buisson N. Rejeb I, et al. Eur J Hum Genet. 2008 Nov;16(11):1358-63. doi: 10.1038/ejhg.2008.103. Epub 2008 Jun 4. Eur J Hum Genet. 2008. PMID: 18523455

10

The location of DCX mutations predicts malformation severity in X-linked lissencephaly.

Leger PL, Souville I, Boddaert N, Elie C, Pinard JM, Plouin P, Moutard ML, des Portes V, Van Esch H, Joriot S, Renard JL, Chelly J, Francis F, Beldjord C, Bahi-Buisson N. Leger PL, et al. Neurogenetics. 2008 Oct;9(4):277-85. doi: 10.1007/s10048-008-0141-5. Epub 2008 Aug 7. Neurogenetics. 2008. PMID: 18685874

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