Evidence map›Paper›PMID 40977440›Full record

ArticleAnnals of Indian Academy of Neurology2025

WARS2 -Associated Neuropsychiatric Phenotype in Childhood: A Case-Based Review.

Shabnam Kalita, Vishnupriya Veeraraghavan, Kaushik Ragunathan, Jaya Shankar Kaushik

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In one paragraph

Article in Annals of Indian Academy of Neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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0 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Shabnam KalitaDepartment of Pediatrics, All India Institute of Medical Sciences, Guwahati, Assam, India.
Vishnupriya VeeraraghavanChild Development and Early Intervention Centre, Department of Pediatrics, All India Institute of Medical Sciences, Guwahati, Assam, India.
Kaushik RagunathanChild Development and Early Intervention Centre, Department of Pediatrics, All India Institute of Medical Sciences, Guwahati, Assam, India.
Jaya Shankar KaushikDepartment of Pediatrics, All India Institute of Medical Sciences, Guwahati, Assam, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

abstractMitochondrial WARS2 -related disorders are known to exhibit a broad phenotypic spectrum, ranging from infantile-onset epilepsy syndromes to hyperkinetic movement disorders. We report a case of an 11-year-old male who presented with tremors, dystonic falls, social anxiety, and impulse control disorder (ICD), with onset at 6 years of age. Genetic analysis revealed a likely compound heterozygous mutation in the WARS2 gene, involving exon 4 (p.Thr154ProfsTer66) and exon 1 (p.Trp13Gly). He demonstrated a remarkable clinical response to levodopa. This case is notable for its rarity and to our knowledge, represents the first reported instance of a WARS2 -related disorder from India.

Indexed as

aminoacyl-tRNA synthetasescase reporthyperkinetic movement disorderimpulse controlSocial anxietytremors

Identifiers

PMID40977440
PMCPMC12611033

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