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Article

Functional analyses of mutations in HEPACAM causing megalencephalic leukoencephalopathy.

Human mutation - 1 Oct 2014

Arnedo Tanit, López-Hernández Tania, Jeworutzki Elena, Capdevila-Nortes Xavier, Sirisi Sònia, Pusch Michael, Estévez Raúl

Abstract excerpt

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy characterized by white matter edema. Autosomal-recessive mutations in MLC1 cause MLC type 1, and autosomal-recessive or dominant mutations in HEPACAM (also called GLIALCAM) cause MLC type 2A and type 2B, respectively. The role of MLC1 and HEPACAM is unknown, although they have been related with the processes of...

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Source

Identifiers

PMID: 25044933
DOI: 10.1002/humu.22622

Genes

HEPACAM
MLC1

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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