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Page 1
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: roubertie a. 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.
Antiglial cell autoantibodies and childhood epilepsy: a case report.
Roubertie A, Boukhaddaoui H, Sieso V, de Saint-Martin A, Lellouch-Tubiana A, Hirsch E, Echenne B, Valmier J. Roubertie A, et al. Epilepsia. 2005 Aug;46(8):1308-12. doi: 10.1111/j.1528-1167.2005.53004.x. Epilepsia. 2005. PMID: 16060945 Free article.
[Movement disorders in children].
Roubertie A, Thobois S, de Saint Martin A, Billette de Villemeur T, Doummar D. Roubertie A, et al. Arch Pediatr. 2006 Jun;13(6):798-800. doi: 10.1016/j.arcped.2006.03.074. Epub 2006 May 11. Arch Pediatr. 2006. PMID: 16690306 French. No abstract available.
Neurologic aspects of MECP2 gene duplication in male patients.
Echenne B, Roubertie A, Lugtenberg D, Kleefstra T, Hamel BC, Van Bokhoven H, Lacombe D, Philippe C, Jonveaux P, de Brouwer AP. Echenne B, et al. Among authors: roubertie a. Pediatr Neurol. 2009 Sep;41(3):187-91. doi: 10.1016/j.pediatrneurol.2009.03.012. Pediatr Neurol. 2009. PMID: 19664534
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: roubertie a. Arch Neurol. 2009 Aug;66(8):1007-15. doi: 10.1001/archneurol.2009.149. Arch Neurol. 2009. PMID: 19667223
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, Berquin P, Nabbout R, Chaigne D, Steschenko D, Gautier A, Hoffman-Zacharska D, Lannuzel A, Lackmy-Port-Lis M, Maurey H, Dusser A, Bru M, Gilbert-Dussardier B, Roubertie A, Kaminska A, Whalen S, Mignot C, Baulac S, Lesca G, Arzimanoglou A, LeGuern E. Depienne C, et al. Among authors: roubertie a. Hum Mutat. 2011 Jan;32(1):E1959-75. doi: 10.1002/humu.21373. Hum Mutat. 2011. PMID: 21053371 Free PMC article.
PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.
Cloarec R, Bruneau N, Rudolf G, Massacrier A, Salmi M, Bataillard M, Boulay C, Caraballo R, Fejerman N, Genton P, Hirsch E, Hunter A, Lesca G, Motte J, Roubertie A, Sanlaville D, Wong SW, Fu YH, Rochette J, Ptácek LJ, Szepetowski P. Cloarec R, et al. Among authors: roubertie a. Neurology. 2012 Nov 20;79(21):2097-103. doi: 10.1212/WNL.0b013e3182752c46. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077017 Free PMC article.
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
Milh M, Boutry-Kryza N, Sutera-Sardo J, Mignot C, Auvin S, Lacoste C, Villeneuve N, Roubertie A, Heron B, Carneiro M, Kaminska A, Altuzarra C, Blanchard G, Ville D, Barthez MA, Heron D, Gras D, Afenjar A, Dorison N, Doummar D, Billette de Villemeur T, An I, Jacquette A, Charles P, Perrier J, Isidor B, Vercueil L, Chabrol B, Badens C, Lesca G, Villard L. Milh M, et al. Among authors: roubertie a. Orphanet J Rare Dis. 2013 May 22;8:80. doi: 10.1186/1750-1172-8-80. Orphanet J Rare Dis. 2013. PMID: 23692823 Free PMC article.
Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.
Delcourt M, Riant F, Mancini J, Milh M, Navarro V, Roze E, Humbertclaude V, Korff C, Des Portes V, Szepetowski P, Doummar D, Echenne B, Quintin S, Leboucq N, Singh Amrathlal R, Rochette J, Roubertie A. Delcourt M, et al. Among authors: roubertie a. J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):782-5. doi: 10.1136/jnnp-2014-309025. Epub 2015 Jan 16. J Neurol Neurosurg Psychiatry. 2015. PMID: 25595153
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.
Angebault C, Charif M, Guegen N, Piro-Megy C, Mousson de Camaret B, Procaccio V, Guichet PO, Hebrard M, Manes G, Leboucq N, Rivier F, Hamel CP, Lenaers G, Roubertie A. Angebault C, et al. Among authors: roubertie a. Hum Mol Genet. 2015 Jul 15;24(14):3948-55. doi: 10.1093/hmg/ddv133. Epub 2015 Apr 21. Hum Mol Genet. 2015. PMID: 25901006
181 results