title: Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia.
abstract: Variant late infantile neuronal ceroid lipofuscinosis is one of the multiethnically prevalent types of neuronal ceroid lipofuscinoses. Reported here are three families representing the first cases from Saudi Arabia, one of them having a novel mutation in the CLN6 gene. The CLN6-related literature is reviewed.
authors.affiliation: Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. mmuhaizea@kfshrc.edu.sa
authors.forename: Mohammad A
authors.initials: MA
authors.lastname: Al-Muhaizea
authors.forename: Zuhair N
authors.initials: ZN
authors.lastname: Al-Hassnan
authors.forename: Aziza
authors.initials: A
authors.lastname: Chedrawi
mesh_terms: D002648:Child; D002675:Child, Preschool; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009472:Neuronal Ceroid-Lipofuscinoses / Q000453:epidemiology* / Q000235:genetics*; D012529:Saudi Arabia / Q000453:epidemiology; D017422:Sequence Analysis, DNA
chemical_list: C447500:CLN6 protein, human; D008565:Membrane Proteins