title: A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features.
abstract: A family is described with six members affected by a syndrome of epilepsy, dementia, and amelogenesis imperfecta (Kohlschütter's syndrome). An autosomal recessive pattern of inheritance is established for this disorder.
authors.affiliation: Department of Genetics, Royal Children's Hospital, Parkville, Victoria, Australia.
authors.forename: J
authors.initials: J
authors.lastname: Christodoulou
authors.forename: R K
authors.initials: RK
authors.lastname: Hall
authors.forename: S
authors.initials: S
authors.lastname: Menahem
authors.forename: I J
authors.initials: IJ
authors.lastname: Hopkins
authors.forename: J G
authors.initials: JG
authors.lastname: Rogers
mesh_terms: D000567:Amelogenesis Imperfecta / Q000235:genetics* / Q000473:pathology; D002648:Child; D003704:Dementia / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D013577:Syndrome