Chloé Angelini

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

Marie Le Roux, Magalie Barth, Sophie Guéden et al. · European Journal of Paediatric Neurology · 2021 · 63 citations · Full text

Electroclinical Findings, Neurophysiology, Treatment Response +4

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

Chloé Angelini, Julien Van‐Gils, Antoine Bigourdan et al. · European Journal of Medical Genetics · 2018 · 56 citations

Biology, Allelic Variant, Genetic Disorder +12

HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models

Laetitia Dard, Christophe Hubert, Pauline Estèves et al. · Journal of Clinical Investigation · 2022 · 28 citations · Full text

Mitophagy, Mitochondrial Proteostasis, Genetics +20

<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability

Audrey Schalk, Margot A. Cousin, Nikita R. Dsouza et al. · Journal of Medical Genetics · 2021 · 28 citations · Full text

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, A. Santini et al. · Nature Genetics · 2025 · 26 citations · Full text