Associated Papers
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
Functional analyses of mutations in HEPACAM causing megalencephalic leukoencephalopathy.
Arnedo T et al.
Human Mutation, 2014
Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction.
Hoegg-Beiler MB et al.
Nature Communications, 2014
Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis.
van der Knaap MS et al.
The Lancet. Neurology, 2012
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
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