Associated Papers
Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experience.
Sartorelli J et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026
Megalencephalic Leukoencephalopathy Type 2B.
Gowda VK et al.
Indian Journal of Pediatrics, 2026
Dominant MLC-causing mutations alter hepaCAM subcellular localization and protein interactome in astrocytes of the developing mouse cortex.
Lewis RW et al.
Biorxiv : the Preprint Server for Biology, 2025
Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A.
Kaur N et al.
Neurogenetics, 2024
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.
Kouri C et al.
Ebiomedicine, 2024
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.
Passchier EMJ et al.
Frontiers in Genetics, 2024
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies.
Elorza-Vidal X et al.
Human Molecular Genetics, 2020
Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models.
Shi Z et al.
World Journal of Pediatrics : Wjp, 2019
New insights into the pathogenicity of non-synonymous variants through multi-level analysis.
Sun H et al.
Scientific Reports, 2019
Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl- channel function and trafficking.
Gaitán-Peñas H et al.
The Journal of Physiology, 2017
HepaCAM associates with connexin 43 and enhances its localization in cellular junctions.
Wu M et al.
Scientific Reports, 2016
Functional analyses of mutations in HEPACAM causing megalencephalic leukoencephalopathy.
Arnedo T et al.
Human Mutation, 2014
Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents.
Capdevila-Nortes X et al.
Human Molecular Genetics, 2013
GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit.
Jeworutzki E et al.
Neuron, 2012
Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts.
López-Hernández T et al.
Human Molecular Genetics, 2011
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.
López-Hernández T et al.
American Journal of Human Genetics, 2011