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authFullName_s : Sarah Weckhuysen

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
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Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

Sara Baldassari , Théo Ribierre , Elise Marsan , Homa Adle-Biassette , Sarah Ferrand-Sorbets et al.
Acta Neuropathologica, 2019, 1, ⟨10.1007/s00401-019-02061-5⟩
Journal articles hal-02282912v1
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Depdc5 knockout rat: A novel model of mTORopathy

Elise Marsan , Saeko Ishida , Adrien Schramm , Sarah Weckhuysen , Giuseppe Muraca et al.
Neurobiology of Disease, 2016, 89, pp.180-189. ⟨10.1016/j.nbd.2016.02.010⟩
Journal articles hal-01275886v1

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

Rikke Møller , Sarah Weckhuysen , Mathilde Chipaux , Elise Marsan , Valérie Taly et al.
Neurology Genetics, 2016, 2 (6), pp.e118. ⟨10.1212/NXG.0000000000000118⟩
Journal articles inserm-02299548v1
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Cyril Mignot , Aoife Mcmahon , Claire Bar , Philippe Campeau , David Davidson et al.
Genetics in Medicine, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Journal articles hal-01919142v1
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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
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Autism and developmental disability caused by KCNQ3 gain‐of‐function variants

Tristan Sands , Francesco Miceli , Gaetan Lesca , Anita Beck , Lynette Sadleir et al.
Annals of Neurology, 2019, ⟨10.1002/ana.25522⟩
Journal articles hal-02151807v1
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De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Caroline Nava , Carine Dalle , Agnès Rastetter , Pasquale Striano , Carolien de Kovel et al.
Nature Genetics, 2014, 46 (6), pp.640-645. ⟨10.1038/ng.2952⟩
Journal articles hal-01710614v1