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Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Maillard PY, Baer S, Schaefer É, Desnous B, Villeneuve N, Lépine A, Fabre A, Lacoste C, El Chehadeh S, Piton A, Porter LF, Perriard C, Wardé MA, Spitz MA, Laugel V, Lesca G, Putoux A, Ville D, Mignot C, Héron D, Nabbout R, Barcia G, Rio M, Roubertie A, Meyer P, Paquis-Flucklinger V, Patat O, Lefranc J, Gerard M; Epigen Consortium; de Bellescize J, Villard L, De Saint Martin A, Milh M. Maillard PY, et al. Among authors: nabbout r. Epilepsia. 2022 Oct;63(10):2519-2533. doi: 10.1111/epi.17336. Epub 2022 Aug 13. Epilepsia. 2022. PMID: 35718920 Free PMC article. Review.
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. Among authors: nabbout r. 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.
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. Among authors: nabbout r. 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.
The ketogenic diet improves recently worsened focal epilepsy.
Villeneuve N, Pinton F, Bahi-Buisson N, Dulac O, Chiron C, Nabbout R. Villeneuve N, et al. Among authors: nabbout r. Dev Med Child Neurol. 2009 Apr;51(4):276-81. doi: 10.1111/j.1469-8749.2008.03216.x. Epub 2008 Feb 3. Dev Med Child Neurol. 2009. PMID: 19191829 Free article.
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC. Marini C, et al. Among authors: nabbout r. Epilepsia. 2009 Jul;50(7):1670-8. doi: 10.1111/j.1528-1167.2009.02013.x. Epub 2009 Mar 12. Epilepsia. 2009. PMID: 19400878 Free article.
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
Depienne C, Trouillard O, Gourfinkel-An I, Saint-Martin C, Bouteiller D, Graber D, Barthez-Carpentier MA, Gautier A, Villeneuve N, Dravet C, Livet MO, Rivier-Ringenbach C, Adam C, Dupont S, Baulac S, Héron D, Nabbout R, Leguern E. Depienne C, et al. Among authors: nabbout r. J Med Genet. 2010 Jun;47(6):404-10. doi: 10.1136/jmg.2009.074328. J Med Genet. 2010. PMID: 20522430 Free article.
328 results