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Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.
Vegas N, Cavallin M, Maillard C, Boddaert N, Toulouse J, Schaefer E, Lerman-Sagie T, Lev D, Magalie B, Moutton S, Haan E, Isidor B, Heron D, Milh M, Rondeau S, Michot C, Valence S, Wagner S, Hully M, Mignot C, Masurel A, Datta A, Odent S, Nizon M, Lazaro L, Vincent M, Cogné B, Guerrot AM, Arpin S, Pedespan JM, Caubel I, Pontier B, Troude B, Rivier F, Philippe C, Bienvenu T, Spitz MA, Bery A, Bahi-Buisson N. Vegas N, et al. Neurol Genet. 2018 Nov 7;4(6):e281. doi: 10.1212/NXG.0000000000000281. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30533527 Free PMC article.
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.
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
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
Le Guen T, Bahi-Buisson N, Nectoux J, Boddaert N, Fichou Y, Diebold B, Desguerre I, Raqbi F, Daire VC, Chelly J, Bienvenu T. Le Guen T, et al. Neurogenetics. 2011 Feb;12(1):1-8. doi: 10.1007/s10048-010-0255-4. Epub 2010 Aug 24. Neurogenetics. 2011. PMID: 20734096 Review.
206 results