Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Early onset epileptic encephalopathy caused by mitochondrial arginyl-tRNA synthetase gene deficiency: report of two cases and literature review].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Nov 2020

Jiang H F, Deng J, Fang F, Li H, Wang X H, Dai L F

Abstract excerpt

Objective: To summarize the clinical features of two early onset epileptic encephalopathy (EOEE) patients with arginyl-tRNA synthetase (RARS2) gene variations and to review related literature. Methods: The clinical data and genetic features of two pontocerebellar hypoplasia type 6 (PCH6) patients with RARS2 variation diagnosed by the Department of Neurology, Beijing Children's Hospital from January 2017 to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to China
Share to Epilepsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Mutation

Source

Identifiers

PMID: 33120460
DOI: 10.3760/cma.j.cn112140-20200716-00729

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Early onset epileptic encephalopathy caused by mitochondrial arginyl-tRNA synthetase gene deficiency: report of two cases and literature review].PMID 33120460Read ↗

RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasiaSemantic proximity Read ↗

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.Semantic proximity Read ↗

Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.Semantic proximity Read ↗

Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6.Semantic proximity Read ↗

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.Semantic proximity Read ↗

Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variationsSemantic proximity Read ↗

[Mutations in aminoacyl-tRNA synthetase genes: an analysis of 10 cases].Semantic proximity Read ↗

RARS2 mutations in a sibship with infantile spasms.Semantic proximity Read ↗

FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.Semantic proximity Read ↗

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.Semantic proximity Read ↗

A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorderSemantic proximity Read ↗

Phenotypic Spectrum and Long-term Outcome in Children With Genetic Causes of Early-onset Epileptic EncephalopathySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.