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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 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.
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.
Journal articles
hal-01275886v1
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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.
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.
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.
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.
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.
Journal articles
hal-01710614v1
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