ArticleEpilepsia2016
RARS2 mutations in a sibship with infantile spasms.
Article in Epilepsia, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 26 citations in OpenAlex.
- Pontocerebellar hypoplasia: a review from 1912 to 2022.Brain communications · 2025Review
- Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.BMC neurology · 2024Article
- Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations.Epilepsia open · 2024Article
- Chicken Hypothalamic and Ovarian DNA Methylome Alteration in Response to Forced Molting.Animals : an open access journal from MDPI · 2023Article
- A Patient with a NovelMolecular syndromology · 2022Article
- Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.Epilepsia open · 2022Article
- West syndrome: a comprehensive review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Review
- A term neonate with early myoclonic encephalopathy caused byTranslational pediatrics · 2020Article
- Fetal and neonatal MRI features ofQuantitative imaging in medicine and surgery · 2019Article
- Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.PloS one · 2019Article
- Cerebral imaging in paediatric mitochondrial disorders.The neuroradiology journal · 2018Review
- Cerebellar atrophy is common among mitochondrial disorders.Metabolic brain disease · 2018Article
- Expanding spectrum ofEpilepsia open · 2018Article
- Distinct magnetic resonance imaging features in a patient with novelExperimental and therapeutic medicine · 2018Article
- Article
- Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.Human molecular genetics · 2017Review
- RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?JIMD reports · 2017Article
- Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum.Orphanet journal of rare diseases · 2016Article
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 3 countries.
Funding
Abstract
Pontocerebellar hypoplasia is a group of heterogeneous neurodevelopmental disorders characterized by reduced volume of the brainstem and cerebellum. We report two male siblings who presented with early infantile clonic seizures, and then developed infantile spasms associated with prominent isolated cerebellar hypoplasia/atrophy on magnetic resonance imaging (MRI). Using whole exome sequencing techniques, both were found to be compound heterozygotes for one previously reported and one novel mutation in the gene encoding mitochondrial arginyl-tRNA synthetase 2 (RARS2). Mutations in this gene have been classically described in pontocerebellar hypoplasia type six (PCH6), a phenotype characterized by early (often intractable) seizures, profound developmental delay, and progressive pontocerebellar atrophy. The electroclinical spectrum of PCH6 is broad and includes a number of seizure types: myoclonic, generalized tonic-clonic, and focal clonic seizures. Our report expands the characterization of the PCH6 disease spectrum and presents infantile spasms as an associated electroclinical phenotype.
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