Search Results - "Ponsot, G"

Myoclonus-dystonia : Clinical and electrophysiologic pattern related to SGCE mutations by ROZE, E, APARTIS, E, ANDRE-OBADIA, N, MALTETE, D, ECHANIZ-LAGUNA, A, PEREON, Y, BEAUGENDRE, Y, DUPONT, S, DE GRESLAN, T, JEDYNAK, C. P, PONSOT, G, DUSSAULE, J. C, CLOT, F, BRICE, A, DÜRR, A, VIDAILHET, M, DORISON, N, THOBOIS, S, GUYANT-MARECHAL, L, TRANCHANT, C, DAMIER, P, DOUMMAR, D, BAHI-BUISSON, N

“…To clarify the clinical and neurophysiologic spectrum of myoclonus-dystonia patients with mutations of the SGCE gene. We prospectively studied 41 consecutive…”
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Herpes simplex encephalitis relapses in children: Differentiation of two neurologic entities by DE TIEGE, X, ROZENBERG, F, DES PORTES, V, LOBUT, J. B, LEBON, P, PONSOT, G, HERON, B

“…Relapses of herpes simplex encephalitis (HSE) occurring after the completion of antiviral treatment have been reported repeatedly in children. The authors…”
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Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH) by des Portes, Vincent, Francis, Fiona, Pinard, Jean-Marc, Desguerre, Isabelle, Moutard, Marie-Laure, Snoeck, Irina, Meiners, Linda C., Capron, François, Cusmai, Raffaella, Ricci, Stefano, Motte, Jacques, Echenne, Bernard, Ponsot, Gérard, Dulac, Olivier, Chelly, Jamel, Beldjord, Cherif

“…Subcortical laminar heterotopia (SCLH), or ‘double cortex’, is a cortical dysgenesis disorder associated with a defect in neuronal migration. Clinical…”
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Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes by Tezenas du Montcel, S, Clot, F, Vidailhet, M, Roze, E, Damier, P, Jedynak, C P, Camuzat, A, Lagueny, A, Vercueil, L, Doummar, D, Guyant-Maréchal, L, Houeto, J-L, Ponsot, G, Thobois, S, Cournelle, M-A, Durr, A, Durif, F, Echenne, B, Hannequin, D, Tranchant, C, Brice, A

“…Background: Myoclonus dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene (SGCE) on…”
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Recurrence of the T666M Calcium Channel CACNA1A Gene Mutation in Familial Hemiplegic Migraine with Progressive Cerebellar Ataxia by Ducros, A., Denier, C., Joutel, A., Vahedi, K., Michel, A., Darcel, F., Madigand, M., Guerouaou, D., Tison, F., Julien, J., Hirsch, E., Chedru, F., Bisgård, C., Lucotte, G., Després, P., Billard, C., Barthez, M.A., Ponsot, G., Bousser, M.G., Tournier-Lasserve, E.

“…Familial hemiplegic migraine (HM) is an autosomal dominant migraine with aura. In 20% of HM families, HM is associated with a mild permanent cerebellar ataxia…”
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Autism and visual agnosia in a child with right occipital lobectomy by Jambaqué, I, Mottron, L, Ponsot, G, Chiron, C

“…OBJECTIVES Autistic disorder is a developmental handicap with an unknown neurological basis. Current neuropsychological models for autism suggest an abnormal…”
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Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation by Desguerre, I, Pinton, F, Nabbout, R, Moutard, M L, N'Guyen, S, Marsac, C, Ponsot, G, Dulac, O

“…To report three cases of infantile spasms (IS) with an abnormal magnetic resonance imaging signal in the basal ganglia (Leigh-like syndrome), due to T8993G mt…”
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Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome : neuropathological and biochemical study of two cases by RODRIGUEZ, D, GELOT, A, PHAM-DINH, D, DELLA GASPERA, B, ROBAIN, O, PONSOT, G, SARLIEVE, L. L, GHANDOUR, S, POMPIDOU, A, DAUTIGNY, A, AUBOURG, P

“…We report neuropathological, biochemical and molecular studies on two patients with childhood ataxia with diffuse central nervous system hypomyelination (CACH)…”
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Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q by Melki, J, Abdelhak, S, Sheth, Peter, Bachelot, M. F, Burlet, Peter, Marcadet, Alun, Aicardi, J, Barois, Alun, Carriere, J. P, Fardeau, M, Fontan, D, Ponsot, G, Billette, T, Angelini, C, Barbosa, C, Ferriere, G, Lanzi, G, Ottolini, Alun, Babron, M. C, Cohen, D, Hanauer, Alun, Clerget-Darpoux, F, Lathrop, M, Munnich, Alun, Frezal, J

“…Proximal spinal muscular atrophies represent the second most common fatal, autosomal recessive disorder after cystic fibrosis. The childhood form is…”
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DYT1 mutation in French families with idiopathic torsion dystonia by LEBRE, A.-S, DURR, A, JEDYNAK, P, PONSOT, G, VIDAILHET, M, AGID, Y, BRICE, A

“…A GAG deletion at position 946 in DYT1, one of the genes responsible for autosomal dominant idiopathic torsion dystonia (ITD), has recently been identified. We…”
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Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia by Miossec-Chauvet, E, Mikaeloff, Y, Heron, D, Merzoug, V, Cormier-Daire, V, de Lonlay, P, Matthijs, G, Van Hulle, C, Ponsot, G, Seta, N

“…Congenital disorders of glycosylation (CDG), formerly called carbohydrate-deficient glycoprotein syndromes, constitute a newly identified group of multisystem…”
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Reappraisal of Rasmussen's syndrome with special emphasis on treatment with high doses of steroids by Chinchilla, D, Dulac, O, Robain, O, Plouin, P, Ponsot, G, Pinel, J F, Graber, D

“…Eight patients with Rasmussen's syndrome and epilepsia partialis continua were treated with high doses of steroids, including pulses of methylprednisolone and…”
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Demyelinating peripheral neuropathy associated with hemophagocytic lymphohistiocytosis. An immuno-electron microscopic study by De Armas, R, Sindou, P, Gelot, A, Routon, M C, Ponsot, G, Vallat, J M

“…We report the case of an 11-year-old male who developed subacute diffuse polyradiculoneuropathy, associated with digestive symptoms and Epstein-Barr virus…”
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Diffuse cortical dysplasia, or the double cortex syndrome : the clinical and epileptic spectrum in 10 patients by PALMINI, A, ANDERMANN, F, ANDERMANN, E, ROBITAILLE, Y, AICARDI, J, DULAC, O, CHAVES, F, PONSOT, G, PINARD, J. M, GOUTIERES, F, LIVINGSTON, J, TAMPIERI, D

“…Diffuse neuronal migration disorders associated with epilepsy can now be recognized by modern neuroimaging techniques, particularly high-resolution MRI. We…”
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Genetic heterogeneity of familial hemiplegic migraine by JOUTEL, A, DUCROS, A, MAZIACEK, J, WEISSENBACH, J, BOUSSER, M. G, TOURNIER-LASSERVE, E, VAHEDI, K, LABAUGE, P, DELRIEU, O, PINSARD, N, MANCINI, J, PONSOT, G, GOUTTIERE, F, GASTAUT, J. L

“…Familial hemiplegic migraine (FHM) is an autosomal dominant variety of migraine with aura. We previously mapped a gene responsible for this disorder to the…”
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Human herpes virus type 6, etiology of an acute encephalitis in childhood: case report by Afenjar, A, Rodriguez, D, Rozenberg, F, Dorison, N, Guët, A, Mignot, C, Doummar, D, Billette de Villemeur, T, Ponsot, G

“…Primary infection with human herpesvirus-6 (HHV-6) causes the classical roseola infantum. Otherwise the infection is clinically silent but it may sometimes be…”
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Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22 by des Portes, V, Pinard, J M, Smadja, D, Motte, J, Boespflüg-Tanguy, O, Moutard, M L, Desguerre, I, Billuart, P, Carrie, A, Bienvenu, T, Vinet, M C, Bachner, L, Beldjord, C, Dulac, O, Kahn, A, Ponsot, G, Chelly, J

“…X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/ LIS) is an intriguing disorder of cortical development, which causes classical…”
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Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies by DEGOUL, F, NELSON, I, AMSELEM, S, ROMERO, N, OBERMAIER-KUSSER, B, PONSOT, G, MARSAC, C, LESTIENNE, P

“…We have sequenced the deletion borders of the muscle mitochondrial DNA from 24 patients with heteroplasmic deletions. The length of these deletions varies from…”
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First episode of acute CNS inflammatory demyelination in childhood: prognostic factors for multiple sclerosis and disability by Mikaeloff, Yann, Suissa, Samy, Vallée, Louis, Lubetzki, Catherine, Ponsot, Gérard, Confavreux, Christian, Tardieu, Marc, KIDMUS Study Group

“…To evaluate prognostic factors for second attack and for disability in children presenting with an initial episode of central nervous system (CNS)…”
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Clinical and EEG video‐polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. Efficiency of hydrocortisone by Mikaeloff, Yann, Plouin, Perrine, Dhondt, Jean‐Louis, Ponsot, Gérard, Dulac, Olivier

“…ABSTRACT West syndrome is an epileptic encephalopathy which includes psychomotor deterioration. In rare cases, it is due to an inherited, progressive metabolic…”
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