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Article

Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2013

Tanyalçin Ibrahim, Verhelst Helene, Halley Dicky J J, Vanderhasselt Tim, Villard Laurent, Goizet Cyril, Lissens Willy, Mancini Grazia M, Jansen Anna C

Abstract excerpt

BACKGROUND: The BIG2 protein, coded by ARFGEF2 indirectly assists neuronal proliferation and migration during cortical development. Mutations in ARFGEF2 have been reported as a rare cause of periventricular heterotopia. METHODS: The presence of periventricular heterotopia, acquired microcephaly and suspected recessive inheritance led to mutation analysis of ARFGEF2 in two affected siblings and their healthy...

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Source

Identifiers

PMID: 23755938
DOI: 10.1016/j.ejpn.2013.05.002

Genes

ARFGEF2
FLNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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