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Case Reports
Journal Article
Neonatal diabetes with intractable epilepsy: DEND syndrome.
Indian Journal of Pediatrics 2014 December
Permanent Neonatal Diabetes Mellitus (PNDM), is a rare monogenic disorder, caused by activating mutations of the KATP channel. The most severe clinical form of PNDM presents as Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome. Diagnosis is confirmed by genetic mutation testing. Oral sulfonylurea therapy improves neurological outcome.
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