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authIdHal_s : laurent-villard

Patients with KCNH1 -related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome

Marion Aubert Mucca , Olivier Patat , Sandra Whalen , Lionel Arnaud , Giulia Barcia et al.
Journal of Medical Genetics, 2021, pp.jmedgenet-2020-107511. ⟨10.1136/jmedgenet-2020-107511⟩
Journal articles hal-03244899v1

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

Mathieu Milh , Nathalie Villeneuve , Mondher Chouchane , Anna Kaminska , Cécile Laroche et al.
Epilepsia, 2011, 52 (10), pp.1828 - 1834. ⟨10.1111/j.1528-1167.2011.03181.x⟩
Journal articles hal-01668681v1

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Nuria Bramswig , Aida Bertoli-Avella , Beate Albrecht , Aida Al Aqeel , Amal Alhashem et al.
Human Genetics, 2018, 137 (9), pp.753 - 768. ⟨10.1007/s00439-018-1929-5⟩
Journal articles hal-01932799v1

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

Stephanie Valence , Emmanuelle Cochet , Christelle Rougeot , Catherine Garel , Sandra Chantot-Bastaraud et al.
Genetics in Medicine, 2019, 21 (3), pp.553-563. ⟨10.1038/s41436-018-0089-2⟩
Journal articles hal-01932802v1
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A Novel Homozygous TBC 1 D 24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement

Diane Doummar , Cyril Mignot , Emmanuelle Apartis , Laurent Villard , Diana Rodriguez et al.
Movement Disorders, 2015, 30 (10), pp.1431-1432. ⟨10.1002/mds.26303⟩
Journal articles istex hal-01664305v1
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SYNGAP1-DEE: A visual sensitive epilepsy

Tommaso Lo Barco , Anna Kaminska , Roberta Solazzi , Claude Cancés , Giulia Barcia et al.
Clinical Neurophysiology, 2021, 132 (4), pp.841-850. ⟨10.1016/j.clinph.2021.01.014⟩
Journal articles hal-03255478v1

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

Lionel van Maldergem , Qingming Hou , Vera Kalscheuer , Marlène Rio , Martine Doco-Fenzy et al.
Human Molecular Genetics, 2013, 22 (16), pp.3306-3314. ⟨10.1093/hmg/ddt187⟩
Journal articles hal-02124657v1

Clinical and Molecular Findings in 39 Patients with KBG Syndrome Caused by Deletion or Mutation of ANKRD11

Alice Goldenberg , Florence Riccardi , Aude Tessier , Rolph Pfundt , Tiffany Busa et al.
American Journal of Medical Genetics Part A, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
Journal articles istex hal-01469066v1
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Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice.

Jean-Charles Viemari , Jean-Christophe Roux , Andrew K Tryba , Véronique Saywell , Henri Burnet et al.
Journal of Neuroscience, 2005, 25 (50), pp.11521-30. ⟨10.1523/JNEUROSCI.4373-05.2005⟩
Journal articles hal-00287790v1

Analysis of the Phenotypes in the Rett Networked Database

Elisa Frullanti , Filomena Papa , Elisa Grillo , Angus Clarke , Bruria Ben-Zeev et al.
International journal of genomics, 2019, 2019, pp.1-9. ⟨10.1155/2019/6956934⟩
Journal articles hal-02417606v1

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’donnell-Luria , Lynn Pais , Víctor Faundes , Jordan Wood , Abigail Sveden et al.
American Journal of Human Genetics, 2019, 104 (6), pp.1210-1222. ⟨10.1016/j.ajhg.2019.03.021⟩
Journal articles hal-02417518v1
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Epilepsy in Rett syndrome—Lessons from the Rett networked database

Andreea Nissenkorn , Rachel S. Levy-Drummer , Ori Bondi , Alessandra Renieri , Laurent Villard et al.
Epilepsia, 2015, 56 (4), pp.569 - 576. ⟨10.1111/epi.12941⟩
Journal articles hal-01664319v1
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Cyril Mignot , Aoife Mcmahon , Claire Bar , Philippe Campeau , David Davidson et al.
Genetics in Medicine, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Journal articles hal-01919142v1
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Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

Pierre Cacciagli , Julie Sutera-Sardo , Ana Borges-Correia , Jean-Christophe Roux , Imen Dorboz et al.
American Journal of Human Genetics, 2013, 93, pp.579-586. ⟨10.1016/j.ajhg.2013.07.023⟩
Journal articles hal-01668665v1

Rett networked database: An integrated clinical and genetic network of rett syndrome databases

Elisa Grillo , Laurent Villard , Angus Clarke , Bruria Ben Zeev , Mercedes Pineda et al.
Human Mutation, 2012, 33 (7), pp.1031 - 1036. ⟨10.1002/humu.22072⟩
Journal articles hal-01668676v1

Clinical study of 19 patients with SCN 8A ‐related epilepsy: Two modes of onset regarding EEG and seizures

Julien Denis , Nathalie Villeneuve , Pierre Cacciagli , Cecile Mignon-Ravix , Caroline Lacoste et al.
Epilepsia, 2019, ⟨10.1111/epi.14727⟩
Journal articles hal-02417625v1
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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff , Katrine M. Johannesen , Ulrike B. S. Hedrich , Silvia Masnada , Guido Rubboli et al.
Brain - A Journal of Neurology , 2017, 140 (5), pp.1316-1336. ⟨10.1093/brain/awx054⟩
Journal articles hal-01668653v1
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GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

Nadia Bahi-Buisson , Karine Poirier , Nathalie Boddaert , Catherine Fallet-Bianco , Nicola Specchio et al.
Brain - A Journal of Neurology , 2010, 133 (11), pp.3194 - 3209. ⟨10.1093/brain/awq259⟩
Journal articles hal-01668022v1