Soysal, ZeynebOkur, MuratEröz, RecepGün, EmrahKocabay, KenanBeşir, Fahri Halit2020-04-302020-04-3020151015-8146https://hdl.handle.net/20.500.12684/435PubMed ID: 26349194Megalencephalic leukoencephalopathy with subcortical cysts with homozygous mutation (c.448delc, p. Ieul 50 ser fsx11) on exon 6 of MLC1 gene: MLC or Van der Knaap disease is a rare entity, a rare and genetically heterogeneous cerebral white matter disease. It is characterized by the presence of macrocephaly, epilepsy and a slowly progressive spastic cerebellar syndrome. It is an autosomal recessive disease caused from mutations of MLC1 gene. In the current case report, a case with MLC who had a homozygous mutation (c.448delC, p.Leu150 ser fsX11) on exon 6 of MLC1 gene is presented.eninfo:eu-repo/semantics/closedAccessMacrocephaly; MLC1 gene; Neurodegenerative disorder; Subcortical cysts; Van der Knaap diseaseArticle262233236N/A