Associated Papers
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P et al.
Clinical Genetics, 2024
38374498 (PubMed )
Supplement: EMS195231-supplement-Supplementary_tables.xlsx › S3_Published
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
Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families.
Abdulkareem AA et al.
Frontiers in Genetics, 2023
Expanding the electro-clinical phenotype of CARS2associated neuroregression.
Kapoor D et al.
Epilepsy & Behavior Reports, 2021
A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.
Hallmann K et al.
Neurology, 2014
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