It is associated with<unk> 1. The<unk> 1 gene is located in chromosome 22q13.33 and is in the genomic coordinates 22:50,059,390 – 50,085874. The gene contains 12 exons and that contain a start codon in exon 2 and an untranslated region in the 3’ end. The<unk> 1 gene product is a 377 amino acid protein highly expressed in the brain. The disease is caused by a homozygous or compound heterozygous mutation in the gene,<unk> 1. Previous research indicates that deficiency of cell surface protein expression of the<unk> 1 gene is the basis for the disorder. The mutant protein is expressed in intracellular compartments reducing the membrane surface expression when compared to the wild type.
Megalencephalic leukoencephalopathy with subcortical cysts
Leukoencephalopathy with neuroaxonal spheroids
Leukoencephalopathy with vanishing white matter
Camel spongiform encephalopathy
Diffuse intrinsic pontine glioma
Powassan encephalitis
Neurodegeneration with brain iron accumulation
Wernicke encephalopathy