title: Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population.
abstract: Megalencephalic leukoencephalopathy with subcortical cysts is a rare leukodystrophy that is characterized by macrocephaly and a slowly progressive clinical course. It is one of the most commonly reported leukoencephalopathies in Turkey. Mutations in the MLC1 gene are the main cause of the disease. We report two patients with megalencephalic leukoencephalopathy with subcortical cysts with confirmed mutations in the MLC1 gene. The mutation in the second patient was novel. We also review identified mutations in the Turkish population.
authors.affiliation: Division of Child Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey.
authors.forename: Uluç
authors.initials: U
authors.lastname: Yiş
authors.forename: Gert C
authors.initials: GC
authors.lastname: Scheper
authors.forename: Nedret
authors.initials: N
authors.lastname: Uran
authors.forename: Aycan
authors.initials: A
authors.lastname: Unalp
authors.forename: Handan
authors.initials: H
authors.lastname: Cakmakçi
authors.forename: Semra
authors.initials: S
authors.lastname: Hiz-Kurul
authors.forename: Eray
authors.initials: E
authors.lastname: Dirik
authors.forename: Marjo S
authors.initials: MS
authors.lastname: van der Knaap
mesh_terms: D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics*; D020863:Central Nervous System Cysts / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D014421:Turkey
chemical_list: C425069:MLC1 protein, human; D008565:Membrane Proteins