Kolexia
Ville Dorothee
Pédiatrie
Hôpital Femme Mère Enfant
Bron, France
114 Activités
0 Followers

Scientifique
Digital
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Sujets de recherche
{{person.topmesh1.name}} Épilepsie Encéphalopathies Spasmes infantiles Crises épileptiques Déficience intellectuelle Spasme Complexe de la sclérose tubéreuse Épilepsie pharmacorésistante Prédisposition génétique à une maladie

Industries

UCB
1 collaboration(s)
Dernière en 2023
Zogenix International Limited
1 collaboration(s)
Dernière en 2022
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Dernières activités

Study on Patients With Rasmussen Encephalitis Treated With Adalimumab: Efficacy and Tolerance in the Short and Long Term: Observational Study on Patients With Rasmussen Encephalitis Treated With Adalimumab: Efficacy and Tolerance in the Short and Long Term
Essai Clinique (Assistance publique - Hôpitaux de Marseille)   05 janvier 2024
715.1 Expanding the clinical and phenotypic spectrum of CHD2-associated early onset epileptic developmental encephalopathy
Epilepsia Congress 2023   29 novembre 2023
Advances in genetics: The start of a new stage for management of focal cortical malformations.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society   20 novembre 2023
Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing Mutation P170R.
Cells   17 octobre 2023
Electroclinical features and phenotypic differences in Adenylosuccinate lyase deficiency: long term follow-up of seven patients from four families and appraisal of the literature.
Epilepsia open   16 octobre 2023
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy and autism spectrum disorder
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Neurology   19 avril 2023
Predicting Outcome of Congenital Cytomegalovirus Infection by Differentiating and Revisiting Severe versus Mild Prenatal Imaging Features.
Fetal diagnosis and therapy   24 janvier 2023
Use of mTOR inhibitors (rapalogs) for the treatment of skin changes in tuberous sclerosis complex.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie   03 janvier 2023
Epilepsies néonatales
HAS Publications   12 décembre 2022