A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features.
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.
Christodoulou
J
J
Department of Genetics, Royal Children's Hospital, Parkville, Victoria, Australia.
Hall
R K
RK
Menahem
S
S
Hopkins
I J
IJ
Rogers
J G
JG
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