A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features

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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.

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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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