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Article

AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset.

Neurogenetics - 1 Aug 2014

Armstrong L, Biancheri R, Shyr C, Rossi A, Sinclair G, Ross C J, Tarailo-Graovac M, Wasserman W W, van Karnebeek C D M

Abstract excerpt

We report the second family with AIMP1 deficiency, due to a homozygous truncating AIMP1 (g.107248613 C > T) mutation. This female showed early-onset developmental arrest, intractable epileptic spasms, microcephaly, and a rapid clinical course leading to premature death, associated with cerebral a...

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Source

Identifiers

PMID: 24958424
DOI: 10.1007/s10048-014-0411-3

Genes

AIMP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24958424-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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