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A very rare, generally severe form of neonatal diabetes mellitus with characteristics of a triad of developmental delay, epilepsy, and neonatal diabetes. Fewer than 40 cases have been reported to date. DEND syndrome represents the most severe end of the neonatal diabetes mellitus spectrum. The associated neurologic features range from mild psychomotor retardation to severe developmental delay. Patients also have therapy-resistant epilepsy and muscle hypotonia. Caused in most cases by gain of channel function mutations in the KCNJ11 gene (11p15.1), encoding a subunit of the ATP-sensitive potassium (KATP) channel. Rare reports of specific mutations in the ABCC8 gene (11p15.1) have also been associated with DEND. The pattern of inheritance of DEND syndrome is either de novo mutation, dominant, or very rarely recessive.
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