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authFullName_s : Thierry Billette de Villemeur
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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Ashley P. L. Marsh , Delphine Héron , Timothy J. Edwards , Angélique Quartier , Charles Galea et al.
Nature Genetics, 2017, 49 (4), pp.511-514. ⟨10.1038/ng.3794⟩
Journal articles hal-01502133v1

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

Sandrine Passemard , Luigi Titomanlio , Monique Elmaleh , Alexandra Afenjar , Jean-Luc Alessandri et al.
Neurology, 2009, 73 (12), pp.962-9. ⟨10.1212/WNL.0b013e3181b8799a⟩
Journal articles inserm-00420406v1
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KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP

Mathieu Kuchenbuch , Giulia Barcia , Nicole Chemaly , Emilie Carme , Agathe Roubertie et al.
Brain - A Journal of Neurology , 2019, 142 (10), pp.2996-3008. ⟨10.1093/brain/awz240⟩
Journal articles hal-02304375v1
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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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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