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Article

Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2.

Journal of child neurology - 1 Sept 2007

Bahi-Buisson Nadia, Eisermann Monica, Nivot Sylvie, Bellanné-Chantelot Christine, Dulac Olivier, Bach Nathalie, Plouin Perrine, Chiron Catherine, de Lonlay Pascale

Abstract excerpt

Activating mutations in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium (KATP) channel is a cause of neonatal diabetes associated with various neurological disorders that include developmental delay, epilepsy, and neonatal diabetes (known together as DEND syndrome). This article reports a girl who developed infantile spasms and early onset diabetes mellitus at the age of 3 months and revealed...

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Source

Identifiers

PMID: 17890419
DOI: 10.1177/0883073807306272

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2.PMID 17890419Read ↗

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Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.Semantic proximity Read ↗

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DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea.Semantic proximity Read ↗

Neonatal Diabetes Caused by Activating Mutations in the Sulphonylurea ReceptorSemantic proximity Read ↗

Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2.Semantic proximity Read ↗

Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND syndrome) due to R50P KCNJ11 mutation.Semantic proximity Read ↗

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