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.
CITATION STYLE
Christodoulou, J., Hall, R. K., Menahem, S., Hopkins, I. J., & Rogers, J. G. (1988). A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features. Journal of Medical Genetics, 25(12), 827–830. https://doi.org/10.1136/jmg.25.12.827
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