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Page 1
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
Di Meglio C, Lesca G, Villeneuve N, Lacoste C, Abidi A, Cacciagli P, Altuzarra C, Roubertie A, Afenjar A, Renaldo-Robin F, Isidor B, Gautier A, Husson M, Cances C, Metreau J, Laroche C, Chouchane M, Ville D, Marignier S, Rougeot C, Lebrun M, de Saint Martin A, Perez A, Riquet A, Badens C, Missirian C, Philip N, Chabrol B, Villard L, Milh M. Di Meglio C, et al. Among authors: chouchane m. Epilepsia. 2015 Dec;56(12):1931-40. doi: 10.1111/epi.13214. Epub 2015 Oct 29. Epilepsia. 2015. PMID: 26514728 Free article.
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
Milh M, Villeneuve N, Chouchane M, Kaminska A, Laroche C, Barthez MA, Gitiaux C, Bartoli C, Borges-Correia A, Cacciagli P, Mignon-Ravix C, Cuberos H, Chabrol B, Villard L. Milh M, et al. Among authors: chouchane m. Epilepsia. 2011 Oct;52(10):1828-34. doi: 10.1111/j.1528-1167.2011.03181.x. Epub 2011 Jul 19. Epilepsia. 2011. PMID: 21770924 Free article.
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.
Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Jugé C, Roubertie A, Héron D, Mignot C, Raffo E, Isidor B, Wahlen S, Sanlaville D, Villeneuve N, Darmency-Stamboul V, Toutain A, Lefebvre M, Chouchane M, Huet F, Lafon A, de Saint Martin A, Lesca G, El Chehadeh S, Thauvin-Robinet C, Masurel-Paulet A, Odent S, Villard L, Philippe C, Faivre L, Rivière JB. Thevenon J, et al. Among authors: chouchane m. Am J Hum Genet. 2014 Jul 3;95(1):113-20. doi: 10.1016/j.ajhg.2014.06.006. Am J Hum Genet. 2014. PMID: 24995870 Free PMC article.
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.
Audic F, de la Banda MGG, Bernoux D, Ramirez-Garcia P, Durigneux J, Barnerias C, Isapof A, Cuisset JM, Cances C, Richelme C, Vuillerot C, Laugel V, Ropars J, Altuzarra C, Espil-Taris C, Walther-Louvier U, Sabouraud P, Chouchane M, Vanhulle C, Trommsdorff V, Pervillé A, Testard H, Lagrue E, Sarret C, Avice AL, Beze-Beyrie P, Pauly V, Quijano-Roy S, Chabrol B, Desguerre I. Audic F, et al. Among authors: chouchane m. Orphanet J Rare Dis. 2020 Jun 12;15(1):148. doi: 10.1186/s13023-020-01414-8. Orphanet J Rare Dis. 2020. PMID: 32532349 Free PMC article.
West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature.
Gibaud M, Barth M, Lefranc J, Mention K, Villeneuve N, Schiff M, Maurey H, Barthez MA, Caubel I, Chouchane M, Doummar D, Kossorotoff M, Lamblin MD, Roubertie A, Nabbout R, Van Bogaert P. Gibaud M, et al. Among authors: chouchane m. Front Pediatr. 2021 Mar 5;9:621200. doi: 10.3389/fped.2021.621200. eCollection 2021. Front Pediatr. 2021. PMID: 33748042 Free PMC article.
Angelman syndrome: a case series assessing neurological issues in adulthood.
Giroud M, Daubail B, Khayat N, Chouchane M, Berger E, Muzard E, Medeiros de Bustos E, Thauvin-Robinet C, Faivre L, Masurel A, Darmency-Stamboul V, Huet F, Béjot Y, Giroud M, Moulin T. Giroud M, et al. Among authors: chouchane m. Eur Neurol. 2015;73(1-2):119-25. doi: 10.1159/000369454. Epub 2014 Nov 29. Eur Neurol. 2015. PMID: 25472600
Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study.
Aragon-Gawinska K, Seferian AM, Daron A, Gargaun E, Vuillerot C, Cances C, Ropars J, Chouchane M, Cuppen I, Hughes I, Illingworth M, Marini-Bettolo C, Rambaud J, Taytard J, Annoussamy M, Scoto M, Gidaro T, Servais L. Aragon-Gawinska K, et al. Among authors: chouchane m. Neurology. 2018 Oct 2;91(14):e1312-e1318. doi: 10.1212/WNL.0000000000006281. Epub 2018 Aug 29. Neurology. 2018. PMID: 30158155 Clinical Trial.
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Delanne J, Bruel AL, Huet F, Moutton S, Nambot S, Grisval M, Houcinat N, Kuentz P, Sorlin A, Callier P, Jean-Marcais N, Mosca-Boidron AL, Mau-Them FT, Denommé-Pichon AS, Vitobello A, Lehalle D, El Chehadeh S, Francannet C, Lebrun M, Lambert L, Jacquemont ML, Gerard-Blanluet M, Alessandri JL, Willems M, Thevenon J, Chouchane M, Darmency V, Fatus-Fauconnier C, Gay S, Bournez M, Masurel A, Leguy V, Duffourd Y, Philippe C, Feillet F, Faivre L, Thauvin-Robinet C. Delanne J, et al. Among authors: chouchane m. Mol Genet Metab Rep. 2021 Oct 18;29:100812. doi: 10.1016/j.ymgmr.2021.100812. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34712575 Free PMC article. Review.
Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.
Masurel-Paulet A, Callier P, Thauvin-Robinet C, Chouchane M, Mejean N, Marle N, Mosca AL, Ben Salem D, Giroud M, Guibaud L, Huet F, Mugneret F, Faivre L. Masurel-Paulet A, et al. Among authors: chouchane m. Am J Med Genet A. 2009 Jul;149A(7):1504-10. doi: 10.1002/ajmg.a.32904. Am J Med Genet A. 2009. PMID: 19533778
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.
Thevenon J, Duffourd Y, Masurel-Paulet A, Lefebvre M, Feillet F, El Chehadeh-Djebbar S, St-Onge J, Steinmetz A, Huet F, Chouchane M, Darmency-Stamboul V, Callier P, Thauvin-Robinet C, Faivre L, Rivière JB. Thevenon J, et al. Among authors: chouchane m. Clin Genet. 2016 Jun;89(6):700-7. doi: 10.1111/cge.12732. Epub 2016 Apr 26. Clin Genet. 2016. PMID: 26757139
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