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
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
Understanding rare variant contributions to autism: lessons from dystrophin-deficient model.
Costa CIS et al.
Npj Genomic Medicine, 2025
Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A.
Kaur N et al.
Neurogenetics, 2024
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.
Passchier EMJ et al.
Frontiers in Genetics, 2024
Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies.
Elorza-Vidal X et al.
Human Molecular Genetics, 2020
Regulatory-auxiliary subunits of CLC chloride channel-transport proteins.
Barrallo-Gimeno A et al.
The Journal of Physiology, 2015
Functional analyses of mutations in HEPACAM causing megalencephalic leukoencephalopathy.
Arnedo T et al.
Human Mutation, 2014
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
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