Kolexia
Altuzarra Cecilia
Pédiatrie
Hôpital Jean-Minjoz
Besançon, France
43 Activités
11 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Encéphalopathies Épilepsie Crises épileptiques Ataxie Déficience intellectuelle Prédisposition génétique à une maladie Épilepsies myocloniques Syndromes épileptiques Analgésie congénitale

Industries

UCB
4 collaboration(s)
Dernière en 2023
Biogen
1 collaboration(s)
Dernière en 2020
Novartis
1 collaboration(s)
Dernière en 2022
Biocodex
1 collaboration(s)
Dernière en 2023

Dernières activités

GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.
Epilepsia   21 septembre 2023
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Brain : a journal of neurology   16 septembre 2022
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Brain : a journal of neurology   22 février 2022
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
34\u003csup\u003eth\u003c/sup\u003e International Epilepsy Congress Virtual 28 August – 1 September 2021   03 novembre 2021
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.
Neurogenetics   17 août 2021
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society   26 mai 2021
the spectrum of WDR62 mutations : description of new cases
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.
Orphanet journal of rare diseases   12 juin 2020
Epileptic encephalopathy due to BRAT1 pathogenic variants: report of eight new patients
Abstracts from the 51st European Society of Human Genetics (ESHG) Conference, in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)   01 juillet 2019
myoclonic encephalopathy: a new cause of congenital stiffness
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019