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SCN1A-related epilepsy with recessive inheritance: Two further families.
Moretti R, Arnaud L, Bouteiller D, Trouillard O, Moreau P, Buratti J, Rastetter A, Keren B, Des Portes V, Toulouse J, Gourfinkel-An I, Leguern E, Depienne C, Mignot C, Nava C. Moretti R, et al. Among authors: bouteiller d. Eur J Paediatr Neurol. 2021 Jul;33:121-124. doi: 10.1016/j.ejpn.2021.05.018. Epub 2021 Jun 5. Eur J Paediatr Neurol. 2021. PMID: 34174751
Autism, language delay and mental retardation in a patient with 7q11 duplication.
Depienne C, Heron D, Betancur C, Benyahia B, Trouillard O, Bouteiller D, Verloes A, LeGuern E, Leboyer M, Brice A. Depienne C, et al. Among authors: bouteiller d. J Med Genet. 2007 Jul;44(7):452-8. doi: 10.1136/jmg.2006.047092. Epub 2007 Mar 30. J Med Genet. 2007. PMID: 17400790 Free PMC article.
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, Keren B, Abert B, Gautier A, Baulac S, Arzimanoglou A, Cazeneuve C, Nabbout R, LeGuern E. Depienne C, et al. Among authors: bouteiller d. J Med Genet. 2009 Mar;46(3):183-91. doi: 10.1136/jmg.2008.062323. Epub 2008 Oct 17. J Med Genet. 2009. PMID: 18930999
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, Benyahia B, Quelin C, Carpentier W, Julia S, Afenjar A, Gautier A, Rivier F, Meyer S, Berquin P, Hélias M, Py I, Rivera S, Bahi-Buisson N, Gourfinkel-An I, Cazeneuve C, Ruberg M, Brice A, Nabbout R, Leguern E. Depienne C, et al. Among authors: bouteiller d. PLoS Genet. 2009 Feb;5(2):e1000381. doi: 10.1371/journal.pgen.1000381. Epub 2009 Feb 13. PLoS Genet. 2009. PMID: 19214208 Free PMC article.
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
Depienne C, Moreno-De-Luca D, Heron D, Bouteiller D, Gennetier A, Delorme R, Chaste P, Siffroi JP, Chantot-Bastaraud S, Benyahia B, Trouillard O, Nygren G, Kopp S, Johansson M, Rastam M, Burglen L, Leguern E, Verloes A, Leboyer M, Brice A, Gillberg C, Betancur C. Depienne C, et al. Among authors: bouteiller d. Biol Psychiatry. 2009 Aug 15;66(4):349-59. doi: 10.1016/j.biopsych.2009.01.025. Epub 2009 Mar 17. Biol Psychiatry. 2009. PMID: 19278672 Free article.
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, Landrieu P, Nguyen K, Ponsot G, Abada M, Doummar D, Damier P, Gil R, Thobois S, Ward AJ, Hutchinson M, Toutain A, Picard F, Camuzat A, Fedirko E, Sân C, Bouteiller D, LeGuern E, Durr A, Vidailhet M, Brice A; French Dystonia Network. Clot F, et al. Among authors: bouteiller d. Brain. 2009 Jul;132(Pt 7):1753-63. doi: 10.1093/brain/awp084. Epub 2009 Jun 2. Brain. 2009. PMID: 19491146
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: bouteiller d. J Med Genet. 2010 Jun;47(6):404-10. doi: 10.1136/jmg.2009.074328. J Med Genet. 2010. PMID: 20522430 Free article.
41 results