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Anne de Saint-Martin

Showing results (51-60 of 80) with videos related to

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American Journal of Human Genetics|August 22, 2017
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical DevelopmentEkaterina L Ivanova, Frédéric Tran Mau-Them, Saima Riazuddin, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 8, 2021
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patientsMarie Le Roux, Magalie Barth, Sophie Gueden, et al.
Epilepsia|October 31, 2015
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 casesChloé Di Meglio, Gaetan Lesca, Nathalie Villeneuve, et al.
European Journal of Human Genetics : EJHG|May 30, 2020
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesiaDiane Doummar, Christel Dentel, Romane Lyautey, et al.
American Journal of Human Genetics|July 5, 2014
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of lifeJulien Thevenon, Mathieu Milh, François Feillet, et al.
European Journal of Medical Genetics|July 21, 2015
From splitting GLUT1 deficiency syndromes to overlapping phenotypesMarie Hully, Sandrine Vuillaumier-Barrot, Christiane Le Bizec, et al.
Human Molecular Genetics|February 25, 2006
SRPX2 mutations in disorders of language cortex and cognitionPatrice Roll, Gabrielle Rudolf, Sandrine Pereira, et al.
Epilepsia|January 7, 2021
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathyAlexandre N Datta, Nadia Bahi-Buisson, Thierry Bienvenu, et al.
Neurology|April 19, 2023
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency SyndromeFanny Mochel, Domitille Gras, Marie-Pierre Luton, et al.
Epilepsia|June 20, 2022
Molecular and clinical descriptions of patients with GABA<sub>A</sub> receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlationPierre-Yves Maillard, Sarah Baer, Élise Schaefer, et al.
Pageof 8

Showing results (51-60 of 80) with videos related to

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Pageof 8
American Journal of Human Genetics|August 22, 2017
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical DevelopmentEkaterina L Ivanova, Frédéric Tran Mau-Them, Saima Riazuddin, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 8, 2021
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patientsMarie Le Roux, Magalie Barth, Sophie Gueden, et al.
Epilepsia|October 31, 2015
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 casesChloé Di Meglio, Gaetan Lesca, Nathalie Villeneuve, et al.
European Journal of Human Genetics : EJHG|May 30, 2020
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesiaDiane Doummar, Christel Dentel, Romane Lyautey, et al.
American Journal of Human Genetics|July 5, 2014
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of lifeJulien Thevenon, Mathieu Milh, François Feillet, et al.
European Journal of Medical Genetics|July 21, 2015
From splitting GLUT1 deficiency syndromes to overlapping phenotypesMarie Hully, Sandrine Vuillaumier-Barrot, Christiane Le Bizec, et al.
Human Molecular Genetics|February 25, 2006
SRPX2 mutations in disorders of language cortex and cognitionPatrice Roll, Gabrielle Rudolf, Sandrine Pereira, et al.
Epilepsia|January 7, 2021
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathyAlexandre N Datta, Nadia Bahi-Buisson, Thierry Bienvenu, et al.
Neurology|April 19, 2023
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency SyndromeFanny Mochel, Domitille Gras, Marie-Pierre Luton, et al.
Epilepsia|June 20, 2022
Molecular and clinical descriptions of patients with GABA<sub>A</sub> receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlationPierre-Yves Maillard, Sarah Baer, Élise Schaefer, et al.
Pageof 8