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Article

Movement disorder and neuronal migration disorder due to ARFGEF2 mutation.

Neurogenetics - 1 Oct 2009

de Wit M C Y, de Coo I F M, Halley D J J, Lequin M H, Mancini G M S

Abstract excerpt

We report a child with a severe choreadystonic movement disorder, bilateral periventricular nodular heterotopia (BPNH), and secondary microcephaly based on compound heterozygosity for two new ARFGEF2 mutations (c.2031_2038dup and c.3798_3802del), changing the limited knowledge about the phenotype. The brain MRI shows bilateral hyperintensity of the putamen, BPNH, and generalized atrophy. Loss of ARFGEF2 function...

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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: 19384555
DOI: 10.1007/s10048-009-0192-2
PMCID: PMC2758209

Genes

ARFGEF2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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