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Article

Recessive ITPA mutations cause an early infantile encephalopathy.

Annals of neurology - 1 Oct 2015

Kevelam Sietske H, Bierau Jörgen, Salvarinova Ramona, Agrawal Shakti, Honzik Tomas, Visser Dennis, Weiss Marjan M, Salomons Gajja S, Abbink Truus E M, Waisfisz Quinten, van der Knaap Marjo S

Abstract excerpt

OBJECTIVE: To identify the etiology of a novel, heritable encephalopathy in a small group of patients. METHODS: Magnetic resonance imaging (MRI) pattern analysis was used to select patients with the same pattern. Homozygosity mapping and whole exome sequencing (WES) were performed to find the cau...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26224535
DOI: 10.1002/ana.24496

Genes

ITPA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26224535-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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