9.B.129 The Membrane Protein MLC1 (MLC1) Family
Defects in MLC1 are a cause of leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1). MLC1 is a syndrome of cerebral leukoencephalopathy and megalencephaly characterized by ataxia, spasticity, seizures, delay in motor development and mild mental retardation. The brain appears swollen on magnetic resonance imaging, with diffuse white-matter abnormalities and the invariable presence of subcortical cysts in frontal and temporal lobes. MLC1 interacts structurally and functionally with several ion/water channels and transporters and ion channel accessory proteins (Brignone et al. 2015). MLC1 mutations cause MLC1and brain channelopathies.