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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