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Article

De novo MGC4607 gene heterozygous missense variants in a child with multiple cerebral cavernous malformations.

Journal of molecular neuroscience : MN - 1 Jul 2012

Mosca Lorena, Pileggi Silvana, Avemaria Francesca, Tarlarini Claudia, Cigoli Maria Sole, Capra Valeria, De Marco Patrizia, Pavanello Marco, Marocchi Alessandro, Penco Silvana

Abstract excerpt

Cavernous malformations are angiographically occult, low-pressure neurovascular lesions with distinct imaging and clinical characteristics; main clinical manifestations are seizure, focal neurological deficits and epileptic attacks. Here we describe the molecular characterization of an Italian child, a symptomatic patient, affected by multiple cerebral cavernous malformations, without a family history of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22415356
DOI: 10.1007/s12031-012-9741-5

Genes

PDCD10

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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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