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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 articles
hal-03244899v1
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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.
Journal articles
hal-01668681v1
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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.
Journal articles
hal-01932799v1
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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.
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.
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.
Journal articles
hal-03255478v1
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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.
Journal articles
hal-02124657v1
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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.
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 articles
hal-00287790v1
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Analysis of the Phenotypes in the Rett Networked Database
Elisa Frullanti
,
Filomena Papa
,
Elisa Grillo
,
Angus Clarke
,
Bruria Ben-Zeev
et al.
Journal articles
hal-02417606v1
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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.
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.
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.
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.
Journal articles
hal-01668665v1
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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.
Journal articles
hal-01668676v1
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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.
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.
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.
Journal articles
hal-01668022v1
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