Associated Papers
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children.
Han X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease.
Poquérusse J et al.
Jimd Reports, 2023
Generation of an iPSC line from a patient with early-onset epileptic encephalopathy carrying CARS2 (p.G476R) mutation.
Xu M et al.
Stem Cell Research, 2022
Expanding the electro-clinical phenotype of CARS2associated neuroregression.
Kapoor D et al.
Epilepsy & Behavior Reports, 2021
Select a paper to view details