PRRT2 mutations and paroxysmal disorders
Méneret, A., Gaudebout, C., Riant, F., Vidailhet, M., Depienne, C., Roze, E.
Published in European journal of neurology (01.06.2013)
Published in European journal of neurology (01.06.2013)
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Journal Article
De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine
Riant, F, Ducros, A, Ploton, C, Barbance, C, Depienne, C, Tournier-Lasserve, E
Published in Neurology (14.09.2010)
Published in Neurology (14.09.2010)
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Journal 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
Published in Journal of medical genetics (01.03.2009)
Published in Journal of medical genetics (01.03.2009)
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Journal Article
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients
Chérot, E., Keren, B., Dubourg, C., Carré, W., Fradin, M., Lavillaureix, A., Afenjar, A., Burglen, L., Whalen, S., Charles, P., Marey, I., Heide, S., Jacquette, A., Heron, D., Doummar, D., Rodriguez, D., Billette de Villemeur, T., Moutard, M.‐L., Guët, A., Xavier, J., Périsse, D., Cohen, D., Demurger, F., Quélin, C., Depienne, C., Odent, S., Nava, C., David, V., Pasquier, L., Mignot, C.
Published in Clinical genetics (01.03.2018)
Published in Clinical genetics (01.03.2018)
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Journal Article
Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations
Vahedi, K, Depienne, C, Le Fort, D, Riant, F, Chaine, P, Trouillard, O, Gaudric, A, Morris, M A, Leguern, E, Tournier-Lasserve, E, Bousser, M-G
Published in Neurology (31.03.2009)
Published in Neurology (31.03.2009)
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Journal Article
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
Depienne, Christel, Trouillard, Oriane, Gourfinkel-An, Isabelle, Saint-Martin, Cécile, Bouteiller, Delphine, Graber, Denis, Barthez-Carpentier, Marie-Anne, Gautier, Agnès, Villeneuve, Nathalie, Dravet, Charlotte, Livet, Marie-Odile, Rivier-Ringenbach, Clothilde, Adam, Claude, Dupont, Sophie, Baulac, Stéphanie, Héron, Delphine, Nabbout, Rima, LeGuern, Eric
Published in Journal of medical genetics (01.06.2010)
Published in Journal of medical genetics (01.06.2010)
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Journal Article
Utilization of Microsatellite Polymorphism for Differentiating Herpes Simplex Virus Type 1 Strains
Deback, C, Boutolleau, D, Depienne, C, Luyt, C.E, Bonnafous, P, Gautheret-Dejean, A, Garrigue, I, Agut, H
Published in Journal of Clinical Microbiology (01.03.2009)
Published in Journal of Clinical Microbiology (01.03.2009)
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Journal Article
Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p
Depienne, C, Magnin, E, Bouteiller, D, Stevanin, G, Saint-Martin, C, Vidailhet, M, Apartis, E, Hirsch, E, LeGuern, E, Labauge, P, Rumbach, L
Published in Neurology (15.06.2010)
Published in Neurology (15.06.2010)
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Journal Article
A novel DCC mutation and genetic heterogeneity in congenital mirror movements
Depienne, C, Cincotta, M, Billot, S, Bouteiller, D, Groppa, S, Brochard, V, Flamand, C, Hubsch, C, Meunier, S, Giovannelli, F, Klebe, S, Corvol, J C, Vidailhet, M, Brice, A, Roze, E
Published in Neurology (18.01.2011)
Published in Neurology (18.01.2011)
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Journal Article
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE
Nava, C, Lamari, F, Héron, D, Mignot, C, Rastetter, A, Keren, B, Cohen, D, Faudet, A, Bouteiller, D, Gilleron, M, Jacquette, A, Whalen, S, Afenjar, A, Périsse, D, Laurent, C, Dupuits, C, Gautier, C, Gérard, M, Huguet, G, Caillet, S, Leheup, B, Leboyer, M, Gillberg, C, Delorme, R, Bourgeron, T, Brice, A, Depienne, C
Published in Translational psychiatry (23.10.2012)
Published in Translational psychiatry (23.10.2012)
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Journal Article
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
Published in Journal of medical genetics (01.07.2007)
Published in Journal of medical genetics (01.07.2007)
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Journal Article
Unusual consequences of status epilepticus in Dravet syndrome
Chipaux, M, Villeneuve, N, Sabouraud, P, Desguerre, I, Boddaert, N, Depienne, C, Chiron, C, Dulac, O, Nabbout, R
Published in Seizure (London, England) (01.04.2010)
Published in Seizure (London, England) (01.04.2010)
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Journal Article
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years
Namekawa, M, Ribai, P, Nelson, I, Forlani, S, Fellmann, F, Goizet, C, Depienne, C, Stevanin, G, Ruberg, M, Dürr, A, Brice, A
Published in Neurology (10.01.2006)
Published in Neurology (10.01.2006)
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Journal Article
A rare case of SPG11 mutation with multiple sclerosis
Laurencin, C., Rascle, L., Cotton, F., Grosset-Janin, C., Bernard, E., Depienne, C., Vukusic, S., Thobois, S.
Published in Revue neurologique (01.06.2016)
Published in Revue neurologique (01.06.2016)
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Journal Article
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia
Depienne, Christel, Fedirko, Estelle, Forlani, Sylvie, Cazeneuve, Cécile, Ribaï, Pascale, Feki, Imed, Tallaksen, Chantal, Nguyen, Karine, Stankoff, Bruno, Ruberg, Merle, Stevanin, Giovanni, Durr, Alexandra, Brice, Alexis
Published in Journal of medical genetics (01.04.2007)
Published in Journal of medical genetics (01.04.2007)
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Journal Article
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia
Elleuch, N, Depienne, C, Benomar, A, Hernandez, A M Ouvrard, Ferrer, X, Fontaine, B, Grid, D, Tallaksen, C M E, Zemmouri, R, Stevanin, G, Durr, A, Brice, A
Published in Neurology (14.03.2006)
Published in Neurology (14.03.2006)
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Journal Article
Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases
Depienne, C, Tallaksen, C, Lephay, J Y, Bricka, B, Poea-Guyon, S, Fontaine, B, Labauge, P, Brice, A, Durr, A
Published in Journal of medical genetics (01.03.2006)
Published in Journal of medical genetics (01.03.2006)
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Journal Article