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Page 1
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Geneviève D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J. Poirier K, et al. Among authors: cances c. Nat Genet. 2013 Jun;45(6):639-47. doi: 10.1038/ng.2613. Epub 2013 Apr 21. Nat Genet. 2013. PMID: 23603762 Free PMC 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. Among authors: cances c. Brain. 2008 Oct;131(Pt 10):2647-61. doi: 10.1093/brain/awn197. Epub 2008 Sep 12. Brain. 2008. PMID: 18790821
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
Saillour Y, Carion N, Quelin C, Leger PL, Boddaert N, Elie C, Toutain A, Mercier S, Barthez MA, Milh M, Joriot S, des Portes V, Philip N, Broglin D, Roubertie A, Pitelet G, Moutard ML, Pinard JM, Cances C, Kaminska A, Chelly J, Beldjord C, Bahi-Buisson N. Saillour Y, et al. Among authors: cances c. Arch Neurol. 2009 Aug;66(8):1007-15. doi: 10.1001/archneurol.2009.149. Arch Neurol. 2009. PMID: 19667223
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cancès C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, Nicolas A, Brice A, Baulac M, Vogt C, El Hajj N, Schneider E, Suls A, Weckhuysen S, Gormley P, Lehesjoki AE, De Jonghe P, Helbig I, Baulac S, Zara F, Koeleman BP; EuroEPINOMICS RES Consortium; Haaf T, LeGuern E, Depienne C. Nava C, et al. Among authors: cances c. Nat Genet. 2014 Jun;46(6):640-5. doi: 10.1038/ng.2952. Epub 2014 Apr 20. Nat Genet. 2014. PMID: 24747641
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
Hully M, Vuillaumier-Barrot S, Le Bizec C, Boddaert N, Kaminska A, Lascelles K, de Lonlay P, Cances C, des Portes V, Roubertie A, Doummar D, LeBihannic A, Degos B, de Saint Martin A, Flori E, Pedespan JM, Goldenberg A, Vanhulle C, Bekri S, Roubergue A, Heron B, Cournelle MA, Kuster A, Chenouard A, Loiseau MN, Valayannopoulos V, Chemaly N, Gitiaux C, Seta N, Bahi-Buisson N. Hully M, et al. Among authors: cances c. Eur J Med Genet. 2015 Sep;58(9):443-54. doi: 10.1016/j.ejmg.2015.06.007. Epub 2015 Jul 17. Eur J Med Genet. 2015. PMID: 26193382
Effect of desipramine on patients with breathing disorders in RETT syndrome.
Mancini J, Dubus JC, Jouve E, Roux JC, Franco P, Lagrue E, Castelnau P, Cances C, Chaix Y, Rougeot-Jung C, Cornu C, Desportes V, Vallée L, Bahi-Buisson N, Truillet R, Attolini L, Villard L, Blin O, Micallef J. Mancini J, et al. Among authors: cances c. Ann Clin Transl Neurol. 2017 Dec 27;5(2):118-127. doi: 10.1002/acn3.468. eCollection 2018 Feb. Ann Clin Transl Neurol. 2017. PMID: 29468173 Free PMC article.
Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.
Cabasson S, Van-Gils J, Villéga F, Abi-Warde MT, Barcia G, Lazaro L, Cancés C, Chelly J, Karsenty C, Rivera S, de Saint-Martin A, Trimouille A, Villard L, Pédespan JM. Cabasson S, et al. Among authors: cances c. Eur J Paediatr Neurol. 2020 Sep;28:214-220. doi: 10.1016/j.ejpn.2020.06.002. Epub 2020 Jun 28. Eur J Paediatr Neurol. 2020. PMID: 32694024
Menkes disease: study of the mitochondrial respiratory chain in three cases.
Pedespan JM, Jouaville LS, Cances C, Letellier T, Malgat M, Guiraud P, Coquet M, Vernhet I, Lacombe D, Mazat JP. Pedespan JM, et al. Among authors: cances c. Eur J Paediatr Neurol. 1999;3(4):167-70. doi: 10.1016/s1090-3798(99)90050-8. Eur J Paediatr Neurol. 1999. PMID: 10476365
Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.
Denis J, Villeneuve N, Cacciagli P, Mignon-Ravix C, Lacoste C, Lefranc J, Napuri S, Damaj L, Villega F, Pedespan JM, Moutton S, Mignot C, Doummar D, Lion-François L, Gataullina S, Dulac O, Martin M, Gueden S, Lesca G, Julia S, Cances C, Journel H, Altuzarra C, Ben Zeev B, Afenjar A, Barth M, Villard L, Milh M. Denis J, et al. Among authors: cances c. Epilepsia. 2019 May;60(5):845-856. doi: 10.1111/epi.14727. Epub 2019 Apr 26. Epilepsia. 2019. PMID: 31026061
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
Géraud J, Dieterich K, Rendu J, Uro Coste E, Dobrzynski M, Marcorelle P, Ioos C, Romero NB, Baudou E, Brocard J, Coville AC, Fauré J, Koenig M, Juntas Morales R, Lacène E, Madelaine A, Marty I, Pegeot H, Theze C, Siegfried A, Cossee M, Cances C. Géraud J, et al. Among authors: cances c. J Med Genet. 2021 Sep;58(9):602-608. doi: 10.1136/jmedgenet-2019-106714. Epub 2020 Sep 29. J Med Genet. 2021. PMID: 32994279 Free PMC article.
110 results