Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy

Rima Nabbout, Nicole Chémaly, Mathilde Chipaux, +8

Orphanet Journal of Rare Diseases

Ketogenic diet also benefits Dravet syndrome patients receiving stiripentol: A prospective pilot study

Rima Nabbout, Cristiana Copioli, Mathilde Chipaux, +4

Epilepsia

Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i> -Related Epilepsies

Andreas Brunklaus, Eduardo Pérez‐Palma, Ismael Ghanty, +19

Neurology

From splitting GLUT1 deficiency syndromes to overlapping phenotypes

Marie Hully, Sandrine Vuillaumier‐Barrot, Christiane Le Bizec, +27

European Journal of Medical Genetics

Autoimmune DiseaseGenetic DisorderGeneticsGlut1 Deficiency SyndromesDisease Gene Identification +2

Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype

Lisa Ouss, Dorothée Leunen, Jacques Laschet, +8

Epilepsia Open

Stiripentol protects against calcium oxalate nephrolithiasis and ethylene glycol poisoning

Marine Le Dudal, Léa Huguet, Joëlle Perez, +12

Journal of Clinical Investigation

Arterial Spin Labeling MRI: A step forward in non-invasive delineation of focal cortical dysplasia in children

Thomas Blauwblomme, Nathalie Boddaert, Nicole Chémaly, +11

Epilepsy Research

Medical ImagingNeuroimagingNon-invasive DelineationNeurologyNeuroscience +6

Patients with dravet syndrome in the era of stiripentol: A French cohort cross-sectional study

Paola De Liso, Nicole Chémaly, Jacques Laschet, +7

Epilepsy Research

MedicineRheumatologyDravet SyndromeDermatology

KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP

Mathieu Kuchenbuch, Giulia Barcia, Nicole Chémaly, +19

Brain

NeuropsychologyKcnt1 EpilepsyNeurophysiologyKcnt1 Gene MutationsGenetic Epidemiology +13

Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

Giulia Barcia, Nicole Chémaly, Stéphanie Gobin, +9

European Journal of Medical Genetics

Neurobiology Of DiseaseNeurological DisorderNeuroanatomyGeneticsMedicine +9