Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

doi:10.1093/brain/awt249

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Article

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

Brain : a journal of neurology - 1 Nov 2013

Conti Valerio, Carabalona Aurelie, Pallesi-Pocachard Emilie, Parrini Elena, Leventer Richard J, Buhler Emmanuelle, McGillivray George, Michel François J, Striano Pasquale, Mei Davide, Watrin Françoise, Lise Stefano, Pagnamenta Alistair T, Taylor Jenny C, Kini Usha, Clayton-Smith Jill, Novara Francesca, Zuffardi Orsetta, Dobyns William B, Scheffer Ingrid E, Robertson Stephen P, Berkovic Samuel F, Represa Alfonso, Keays David A, Cardoso Carlos, Guerrini Renzo

Abstract excerpt

Periventricular nodular heterotopia is caused by defective neuronal migration that results in heterotopic neuronal nodules lining the lateral ventricles. Mutations in filamin A (FLNA) or ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) cause periventricular nodular heterotopia, but most patients with this malformation do not have a known aetiology. Using comparative genomic hybridization, we...

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Identifiers

PMID: 24056535
DOI: 10.1093/brain/awt249

Genes

ARFGEF2
FLNA

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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