Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND syndrome) due to R50P KCNJ11 mutation
Copyright policy )Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND syndrome) due to R50P KCNJ11 mutation
Mutations in KCNJ11 cause majority of cases of permanent neonatal diabetes (PND). Multiple reports of PND with successful transitioning to oral sulfonylurea had been reported except for those with DEND syndrome. This case report highlights a case of successful sulfonylurea treatment in a patient with DEND syndrome.
- University System of Ohio United States
- Wright State University United States
Male, Developmental Disabilities, DNA Mutational Analysis, Infant, Newborn, DNA, Syndrome, Infant, Newborn, Diseases, Sulfonylurea Compounds, Seizures, Mutation, Diabetes Mellitus, Humans, Genetic Testing, Potassium Channels, Inwardly Rectifying
Male, Developmental Disabilities, DNA Mutational Analysis, Infant, Newborn, DNA, Syndrome, Infant, Newborn, Diseases, Sulfonylurea Compounds, Seizures, Mutation, Diabetes Mellitus, Humans, Genetic Testing, Potassium Channels, Inwardly Rectifying
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