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Severe phenotypic spectrum of biallelic mutations in PRRT2 gene
Marion Delcourt
,
Florence Riant
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Josette Mancini
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Mathieu Milh
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Vincent Navarro
et al.
Journal articles
hal-02136851v1
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
Christel Depienne
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Caroline Nava
,
Boris Keren
,
Solveig Heide
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Agnès Rastetter
et al.
Journal articles
hal-01502135v1
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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Juliette Coursimault
,
Anne-Marie Guerrot
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Michelle Morrow
,
Catherine Schramm
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Francisca Millan Zamora
et al.
Journal articles
hal-03820933v1
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Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function
Gillian I. Rice
,
Sehoon Park
,
Francesco Gavazzi
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Laura Adang
,
Loveline Ayuk
et al.
Journal articles
hal-02996412v1
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Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies
Marie‐céline François-Heude
,
Elise Lebigot
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Emmanuel Roze
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Marie Thérèse Abi Warde
,
Claude Cances
et al.
Journal articles
hal-03806206v1
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Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome
Gillian Rice
,
Candice Meyzer
,
Naïm Bouazza
,
Marie Hully
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Nathalie Boddaert
et al.
Journal articles
pasteur-01974160v1
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A Novel Homozygous TBC 1 D 24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement
Diane Doummar
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Cyril Mignot
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Emmanuelle Apartis
,
Laurent Villard
,
Diana Rodriguez
et al.
Journal articles
istex
hal-01664305v1
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Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC 16A2 mutations
Ganaelle Remerand
,
Odile Boespflug‐tanguy
,
Davide Tonduti
,
Renaud Touraine
,
Diana Rodriguez
et al.
Journal articles
hal-02267879v1
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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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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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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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Efficacy of Caffeine in ADCY5 ‐Related Dyskinesia: A Retrospective Study
Aurélie Méneret
,
Shekeeb Mohammad
,
Laura Cif
,
Diane Doummar
,
Claudio Degusmao
et al.
Journal articles
hal-03996103v1
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Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy
Claire Bar
,
Delphine Breuillard
,
Mathieu Kuchenbuch
,
Mélanie Jennesson
,
Gwenaël Le Guyader
et al.
Journal articles
hal-03485808v1
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Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders
Caroline Nava
,
Johanna Rupp
,
Jean-Paul Boissel
,
Cyril Mignot
,
Agnès Rastetter
et al.
Journal articles
hal-01191525v1
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Increased diagnostic yield in complex dystonia through exome sequencing
Thomas Wirth
,
Christine Tranchant
,
Nathalie Drouot
,
Boris Keren
,
Cyril Mignot
et al.
Journal articles
hal-03490916v1
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SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation
Maud Blanluet
,
Julien Masliah-Planchon
,
Irina Giurgea
,
Franck Bielle
,
Élodie Girard
et al.
Journal articles
hal-02347134v1
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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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cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing
Carolina Uggenti
,
Alice Lepelley
,
Marine Depp
,
Andrew Badrock
,
Mathieu P Rodero
et al.
Journal articles
hal-03367600v1
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Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature
Claire Bar
,
Giulia Barcia
,
Mélanie Jennesson
,
Gwenaël Le Guyader
,
Amy Schneider
et al.
Journal articles
hal-02302579v1
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Epilepsy with migrating focal seizures KCNT1 mutation hotspots and phenotype variability
Giulia Barcia
,
Nicole Chemaly
,
Mathieu Kuchenbuch
,
Monika Eisermann
,
Stephanie Gobin-Limballe
et al.
Journal articles
hal-02498046v1
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Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes
Ange-Line Bruel
,
Brunella Franco
,
Yannis Duffourd
,
Julien Thévenon
,
Laurence Jego
et al.
Journal articles
hal-01789377v1
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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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TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome
Nils J. Lambacher
,
Ange-Line Bruel
,
Teunis J. P. van Dam
,
Katarzyna Szymańska
,
Gisela G. Slaats
et al.
Journal articles
hal-01409162v1
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Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome
Claire Bar
,
Mathieu Kuchenbuch
,
Giulia Barcia
,
Amy Schneider
,
Mélanie Jennesson
et al.
Journal articles
hal-02959318v1
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