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Article

RARS2 mutations in a sibship with infantile spasms.

Epilepsia - 1 May 2016

Ngoh Adeline, Bras Jose, Guerreiro Rita, Meyer Esther, McTague Amy, Dawson Eleanor, Mankad Kshitij, Gunny Roxana, Clayton Peter, Mills Philippa B, Thornton Rachel, Lai Ming, Forsyth Robert, Kurian Manju A

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27061686
DOI: 10.1111/epi.13358
PMCID: PMC4864753

Genes

RARS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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