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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⟩
Article dans une revue hal-03485808v1
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New insights into CC2D2A -related Joubert syndrome

Madeleine Harion , Leila Qebibo , Audrey Riquet , Christelle Rougeot , Alexandra Afenjar , et al.
Journal of Medical Genetics, 2022, pp.jmedgenet-2022-108754. ⟨10.1136/jmg-2022-108754⟩
Article dans une revue hal-03837222v1

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

Julie Pilliod , Sébastien Moutton , Julie Lavie , Elise Maurat , Christophe Hubert , et al.
Annals of Neurology, 2015, 78 (6), pp.871-886. ⟨10.1002/ana.24509⟩
Article dans une revue istex hal-01955612v1

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Davor Lessel , Christina Gehbauer , Nuria C. Bramswig , Caroline Schluth-Bolard , Sathish Venkataramanappa , et al.
Brain - A Journal of Neurology , 2018, 141 (8), pp.2299-2311. ⟨10.1093/brain/awy173⟩
Article dans une revue hal-03600553v1
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Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

Christel Depienne , Delphine Bouteiller , Boris Keren , Emmanuel Cheuret , Karine Poirier , et al.
PLoS Genetics, 2009, 5 (2), pp.e1000381. ⟨10.1371/journal.pgen.1000381⟩
Article dans une revue hal-02566769v1
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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⟩
Article dans une revue hal-02302579v1