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Article

DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea.

Journal of Korean medical science - 1 Jun 2017

Cho Ja Hyang, Kang Eungu, Lee Beom Hee, Kim Gu Hwan, Choi Jin Ho, Yoo Han Wook

Abstract excerpt

Permanent neonatal diabetes mellitus (PNDM) is caused by mutations in the ATP-sensitive potassium channel (KATP channel) subunits. Developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome is the most severe form of PNDM and is characterized by various neurologic features. We report on a patient with DEND syndrome following initial misdiagnosis with type 1 DM, who was successfully switched from insulin...

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Share to Diabetes Mellitus
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypoglycemic Agents

Share to Infant, Newborn, Diseases

Share to Potassium Channels, Inwardly Rectifying

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Source

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Identifiers

PMID: 28480665
DOI: 10.3346/jkms.2017.32.6.1042
PMCID: PMC5426229

Genes

KCNJ11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea.PMID 28480665Read ↗

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Neonatal diabetes with intractable epilepsy: DEND syndrome.Semantic proximity Read ↗

A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.Semantic proximity Read ↗

Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan.Semantic proximity Read ↗

Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.Semantic proximity Read ↗

Detection of KCNJ11 gene mutations in a family with neonatal diabetes mellitus: implications for therapeutic management of family members with long-standing disease.Semantic proximity Read ↗

First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment.Semantic proximity Read ↗

Novel perspectives of super-high dose sulfonylurea and high-dose oral prednisolone in an infant with DEND syndrome due to V64M heterozygote KCNJ11 mutation.Semantic proximity Read ↗

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Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants.Semantic proximity Read ↗

Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment.Semantic proximity Read ↗

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