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Article

Early white matter involvement in an infant carrying a novel mutation in ACOX1.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2016

Masson R, Guerra S, Cerini R, Pensato V, Gellera C, Taroni F, Simonati A

Abstract excerpt

We describe the clinical findings and MRI features observed in a child who presented a two-step disease course: he was hypotonic at birth and soon afterwards developed seizures, which were partially responsive to treatment; he subsequently showed developmental delay and a progressive neurological deterioration with the onset of severe seizures at around three years of age. Head MRI at age 20 days was...

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Source

Identifiers

PMID: 26965209
DOI: 10.1016/j.ejpn.2016.02.007

Genes

ACOX1

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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