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
A Patient with a Novel RARS2 Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature.
Sevinç S et al.
Molecular Syndromology, 2022
Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.
de Valles-Ibáñez G et al.
Epilepsia Open, 2022
Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.
Shakya S et al.
Clinical Genetics, 2019
Expanding spectrum of RARS2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features.
Mathew T et al.
Epilepsia Open, 2018
Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature.
Zhang J et al.
Experimental and Therapeutic Medicine, 2018
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