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authFullName_s : Diane Doummar

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene

Marion Delcourt , Florence Riant , Josette Mancini , Mathieu Milh , Vincent Navarro et al.
Journal of Neurology, Neurosurgery and Psychiatry, 2015, 86 (7), pp.782-785. ⟨10.1136/jnnp-2014-309025⟩
Journal articles hal-02136851v1

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Christel Depienne , Caroline Nava , Boris Keren , Solveig Heide , Agnès Rastetter et al.
Human Genetics, 2017, 136 (4), pp.463-479. ⟨10.1007/s00439-017-1772-0⟩
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 , Michelle Morrow , Catherine Schramm , Francisca Millan Zamora et al.
Human Genetics, 2022, 141 (1), pp.65-80. ⟨10.1007/s00439-021-02383-z⟩
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 , Laura Adang , Loveline Ayuk et al.
Human Mutation, 2020, 41 (4), pp.837-849. ⟨10.1002/HUMU.23975⟩
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 , Emmanuel Roze , Marie Thérèse Abi Warde , Claude Cances et al.
European Journal of Neurology, 2022, 29 (11), pp.3229-3242. ⟨10.1111/ene.15515⟩
Journal articles hal-03806206v1
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Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Gillian Rice , Candice Meyzer , Naïm Bouazza , Marie Hully , Nathalie Boddaert et al.
New England Journal of Medicine, 2018, 379 (23), pp.2275-2277. ⟨10.1056/NEJMc1810983⟩
Journal articles pasteur-01974160v1
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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

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.
Developmental Medicine and Child Neurology, 2019, 61 (12), pp.1439-1447. ⟨10.1111/dmcn.14332⟩
Journal articles hal-02267879v1

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

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

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

Efficacy of Caffeine in ADCY5 ‐Related Dyskinesia: A Retrospective Study

Aurélie Méneret , Shekeeb Mohammad , Laura Cif , Diane Doummar , Claudio Degusmao et al.
Movement Disorders, 2022, 37 (6), pp.1294-1298. ⟨10.1002/mds.29006⟩
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.
Epilepsy & Behavior, 2022, 126, pp.108471. ⟨10.1016/j.yebeh.2021.108471⟩
Journal articles hal-03485808v1

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.
Amino Acids, 2015, 47 (12), pp.2647-2658. ⟨10.1007/s00726-015-2057-3⟩
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.
Parkinsonism & Related Disorders, 2020, 74, pp.50 - 56. ⟨10.1016/j.parkreldis.2020.04.003⟩
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.
Acta Neuropathologica, 2019, 137 (4), pp.675-678. ⟨10.1007/s00401-019-01983-4⟩
Journal articles hal-02347134v1

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

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.
Nature Genetics, 2020, 52 (12), pp.1364-1372. ⟨10.1038/s41588-020-00737-3⟩
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.
Human Mutation, 2020, 41 (1), pp.69-80. ⟨10.1002/humu.23915⟩
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.
Neurology Genetics, 2019, 5 (6), pp.e363. ⟨10.1212/NXG.0000000000000363⟩
Journal articles hal-02498046v1

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 of Medical Genetics, 2017, 54 (6), pp.371 - 380. ⟨10.1136/jmedgenet-2016-104436⟩
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.
Brain - A Journal of Neurology , 2017, 140 (5), pp.1316-1336. ⟨10.1093/brain/awx054⟩
Journal articles hal-01668653v1

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.
Nature Cell Biology, 2016, 18 (1), pp.122 - 131. ⟨10.1038/ncb3273⟩
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.
Epilepsia, 2020, 61 (11), pp.2461-2473. ⟨10.1111/epi.16679⟩
Journal articles hal-02959318v1