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Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
Author / Creator: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
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2009-03, Vol.46 (3), p.183-191
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SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations
Author / Creator:Millecamps, Stéphanie ; Salachas, François ; Cazeneuve, Cécile ; Gordon, Paul ; Bricka, Bernard ; Camuzat, Agnès ; Guillot-Noël, Léna ; Russaouen, Odile ; Bruneteau, Gaëlle ; Pradat, Pierre-François ; Le Forestier, Nadine ; Vandenberghe, Nadia ; Danel-Brunaud, Véronique ; Guy, Nathalie ; Thauvin-Robinet, Christel ; Lacomblez, Lucette ; Couratier, Philippe ; Hannequin, Didier ; Seilhean, Danielle ; Le Ber, Isabelle ; Corcia, Philippe ; Camu, William ; Brice, Alexis ; Rouleau, Guy ; LeGuern, Eric ; Meininger, Vincent
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2010-08, Vol.47 (8), p.554-560
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Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
Author / Creator: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
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2010-06, Vol.47 (6), p.404-410
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Autism, language delay and mental retardation in a patient with 7q11 duplication
Author / Creator:Depienne, C ; Heron, D ; Betancur, C ; Benyahia, B ; Trouillard, O ; Bouteiller, D ; Verloes, A ; LeGuern, E ; Leboyer, M ; Brice, A
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2007-07, Vol.44 (7), p.452-458
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The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
Author / Creator:Cuesta, Ana ; Pedrola, Laia ; Sevilla, Teresa ; García-Planells, Javier ; Chumillas, María José ; Mayordomo, Fernando ; LeGuern, Eric ; Marín, Ignacio ; Vílchez, Juan J. ; Palau, Francesc
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2002-01, Vol.30 (1), p.22-25
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Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease
Author / Creator:Dubourg, O. ; Azzedine, H. ; Verny, C. ; Durosier, G. ; Birouk, N. ; Gouider, R. ; Salih, M. ; Bouhouche, A. ; Thiam, A. ; Grid, D. ; Mayer, M. ; Ruberg, M. ; Tazir, M. ; Brice, A. ; LeGuern, E.
Publisher:United States
Journal title:Neuromolecular medicine, 2006-03, Vol.8 (1-2), p.75-85
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Abnormal TDP-43 and FUS proteins in muscles of sporadic IBM: similarities in a TARDBP-linked ALS patient
Author / Creator:Hernandez Lain, Aurelio ; Millecamps, Stéphanie ; Dubourg, Odile ; Salachas, François ; Bruneteau, Gaëlle ; Lacomblez, Lucette ; LeGuern, Eric ; Seilhean, Danielle ; Duyckaerts, Charles ; Meininger, Vincent ; Mallet, Jacques ; Pradat, Pierre-François
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2011-12, Vol.82 (12), p.1414-1416
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Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33
Author / Creator:Gabreëls-Festen, Anneke ; van Beersum, Sylvia ; Eshuis, Lilian ; LeGuern, Eric ; Gabreëls, Fons ; van Engelen, Baziel ; Mariman, Edwin
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 1999-05, Vol.66 (5), p.569-574
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ArticlesPeer ReviewedFull Text
Autism, language delay and mental retardation in a patient with 7q11 duplication
Author / Creator:Depienne, C ; Heron, D ; Betancur, C ; Benyahia, B ; Trouillard, O ; Bouteiller, D ; Verloes, A ; LeGuern, E ; Leboyer, M ; Brice, A
Publisher:England: BMJ Publishing Group LTD
Journal title:BMJ case reports, 2009, Vol.2009, p.bcr0520091911
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Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families
Author / Creator:Rouger, H ; LeGuern, E ; Birouk, N ; Gouider, R ; Tardieu, S ; Plassart, E ; Gugenheim, M ; Vallat, J M ; Louboutin, J P ; Bouche, P ; Agid, Y ; Brice, A
Publisher:United States
Journal title:Human mutation, 1997, Vol.10 (6), p.443-452
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Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
Author / Creator:Escayg, Andrew ; MacDonald, Bryan T. ; Meisler, Miriam H. ; Baulac, Stéphanie ; Huberfeld, Gilles ; An-Gourfinkel, Isabelle ; Brice, Alexis ; LeGuern, Eric ; Moulard, Bruno ; Chaigne, Denys ; Buresi, Catherine ; Malafosse, Alain
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2000-04, Vol.24 (4), p.343-345
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ArticlesPeer ReviewedFull Text
Fever, genes, and epilepsy
Author / Creator:Baulac, Stéphanie ; Gourfinkel-An, Isabelle ; Nabbout, Rima ; Huberfeld, Gilles ; Serratosa, Jose ; Leguern, Eric ; Baulac, Michel
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2004-07, Vol.3 (7), p.421-430
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Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients
Author / Creator:Kovel, Carolien G.F. ; Brilstra, Eva H. ; Kempen, Marjan J.A. ; Slot, Ruben ; Nijman, Isaac J. ; Afawi, Zaid ; De Jonghe, Peter ; Djémié, Tania ; Guerrini, Renzo ; Hardies, Katia ; Helbig, Ingo ; Hendrickx, Rik ; Kanaan, Moine ; Kramer, Uri ; Lehesjoki, Anna‐Elina E. ; Lemke, Johannes R. ; Marini, Carla ; Mei, Davide ; Møller, Rikke S. ; Pendziwiat, Manuela ; Stamberger, Hannah ; Suls, Arvid ; Weckhuysen, Sarah ; Koeleman, Bobby P.C. ; R, Balling ; N, Barisic ; S, Baulac ; HS, Caglayan ; DC, Craiu ; C, Depienne ; P, Gormley ; H, Hjalgrim ; D, Hoffman‐Zacharska ; J, Jähn ; KM, Klein ; V, Komarek ; E, LeGuern ; H, Lerche ; P, May ; H, Muhle ; D, Pal ; A, Palotie ; F, Rosenow ; K, Selmer ; JM, Serratosa ; SM, Sisodiya ; U, Stephani ; K, Sterbova ; P, Striano ; T, Talvik ; M, van Haelst ; N, Verbeek ; S, von Spiczak ; YG, Weber
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2016-09, Vol.4 (5), p.568-580
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ArticlesPeer ReviewedFull Text
Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): new molecular tools for the study of the region 17p12→p11 and for diagnosis
Author / Creator:LeGuern, E. ; Ravise, R. ; Gouider, R. ; Gugenheim, M. ; Lopes, J. ; Bouche, P. ; Agid, Y. ; Brice, A.
Publisher:Basel, Switzerland
Journal title:Cytogenetic and genome research, 1996-01, Vol.72 (1), p.20-25
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Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
Author / Creator:Bolino, Alessandra ; Muglia, Maria ; Conforti, Francesca Luisa ; LeGuern, Eric ; Salih, Mustafa A.M. ; Georgiou, Domna-Maria ; Christodoulou, Kyproula ; Hausmanowa-Petrusewicz, Irena ; Mandich, Paola ; Schenone, Angelo ; Gambardella, Antonio ; Bono, Franco ; Quattrone, Aldo ; Devoto, Marcella ; Monaco, Anthony P.
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2000-05, Vol.25 (1), p.17-19
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Monogenic idiopathic epilepsies
Author / Creator:Gourfinkel-An, Isabelle ; Baulac, Stéphanie ; Nabbout, Rima ; Ruberg, Merle ; Baulac, Michel ; Brice, Alexis ; LeGuern, Eric
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2004-04, Vol.3 (4), p.209-218
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Epilepsy Caused by an Abnormal Alternative Splicing with Dosage Effect of the SV2A Gene in a Chicken Model
Author / Creator:Douaud, Marine ; Feve, Katia ; Pituello, Fabienne ; Gourichon, David ; Boitard, Simon ; Leguern, Eric ; Coquerelle, Gérard ; Vieaud, Agathe ; Batini, Cesira ; Naquet, Robert ; Vignal, Alain ; Tixier-Boichard, Michèle ; Pitel, Frédérique
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-10, Vol.6 (10), p.e26932-e26932
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ArticlesPeer ReviewedFull Text
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease
Author / Creator:Dubourg, O ; Azzedine, H ; Verny, C ; Durosier, G ; Birouk, N ; Gouider, R ; Salih, M ; Bouhouche, A ; Thiam, A ; Grid, D ; Mayer, M ; Ruberg, M ; Tazir, M ; Brice, A ; Leguern, E
Publisher:Totowa: Springer Nature B.V
Journal title:Neuromolecular medicine, 2006-03, Vol.8 (1-2), p.75-85
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Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations
Author / Creator:Moulard, Bruno ; Genton, Pierre ; Grid, Djamel ; Jeanpierre, Marc ; Ouazzani, Réda ; Mrabet, Amel ; Morris, Mike ; LeGuern, Eric ; Dravet, Charlotte ; Mauguière, François ; Utermann, Barbara ; Baldy-Moulinier, Michel ; Belaidi, Halima ; Bertran, Françoise ; Biraben, Arnaud ; Ali Chérif, André ; Chkili, Taieb ; Crespel, Arielle ; Darcel, Françoise ; Dulac, Olivier ; Geny, Christian ; Humbert-Claude, Véronique ; Kassiotis, Philippe ; Buresi, Catherine ; Malafosse, Alain
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2002-09, Vol.111 (3), p.255-262
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First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene
Author / Creator:Baulac, S ; Huberfeld, G ; Gourfinkel-An, I ; Mitropoulou, G ; Beranger, A ; Prud'homme, J F ; Baulac, M ; Brice, A ; Bruzzone, R ; LeGuern, E
Publisher:United States
Journal title:Nature genetics, 2001-05, Vol.28 (1), p.46-48
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Showing 1 to 20 of 29 results

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Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

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SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations

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Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

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Autism, language delay and mental retardation in a patient with 7q11 duplication

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The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

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Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease

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Abnormal TDP-43 and FUS proteins in muscles of sporadic IBM: similarities in a TARDBP-linked ALS patient

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Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33

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Autism, language delay and mental retardation in a patient with 7q11 duplication

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Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families

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Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

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Fever, genes, and epilepsy

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Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

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Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): new molecular tools for the study of the region 17p12→p11 and for diagnosis

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Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2

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Monogenic idiopathic epilepsies

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Epilepsy Caused by an Abnormal Alternative Splicing with Dosage Effect of the SV2A Gene in a Chicken Model

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Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease

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Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations

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First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

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