Publication:
Seizure as a Presentation of Permanent Neonatal Diabetes Mellitus due to Mutation in KCNJ11 Gene: A Case Report

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creativeworkseries.issnISSN 1990-7974 eISSN 1990-7982
dc.contributor.authorPatnaik, Sibabratta
dc.contributor.authorSahoo, Bandya
dc.contributor.authorJain, Mukesh Kumar
dc.contributor.authorMishra, Reshmi
dc.contributor.authorBehera, Jyotiranjan
dc.date.accessioned2026-01-01T07:51:57Z
dc.date.available2026-01-01T07:51:57Z
dc.date.issued2020
dc.descriptionSibabratta Patnaik Department of Paediatrics, Kalinga Institute of Medical Sciences, Bhubaneswar, India Bandya Sahoo Department of Paediatrics, Kalinga Institute of Medical Sciences, Bhubaneswar, India Mukesh Kumar Jain Department of Paediatrics, Kalinga Institute of Medical Sciences, Bhubaneswar, India Reshmi Mishra Department of Paediatrics, Kalinga Institute of Medical Sciences, Bhubaneswar, India Jyotiranjan Behera Department of Paediatrics, Kalinga Institute of Medical Sciences, Bhubaneswar, India
dc.description.abstractAbstract: Diabetes Mellitus in first six months of life is usually monogenic and is referred to as neonatal diabetes mellitus. The incidence of neonatal diabetes is extremely rare and varies from 1:89000 to 1:400000 live births. We report a two months old baby presenting with repeated seizures; on evaluation found to have diabetic ketoacidosis and initially managed with IV insulin infusion. Genetic study revealed heterozygous mutation, p. Valin 252 Leu in KCNJ 11 gene. This mutation suggests responsiveness to oral glibenclamide. The baby has responded to therapy. Seizure as a presenting feature for hyperglycemia is a rare entity
dc.identifierhttps://doi.org/10.3126/jnps.v40i1.28611
dc.identifier.urihttps://hdl.handle.net/20.500.14572/3980
dc.language.isoen_US
dc.publisherNepal Paediatric Society (JNPS)
dc.subjectglibenclamide
dc.subjectK ATP Channel
dc.subjectKCNJ 11 gene
dc.subjectNeonatal Diabetes Mellitus
dc.titleSeizure as a Presentation of Permanent Neonatal Diabetes Mellitus due to Mutation in KCNJ11 Gene: A Case Report
dc.typeArticle
dspace.entity.typePublication
local.article.typeCase Report
oaire.citation.endPage59
oaire.citation.startPage56
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relation.isJournalIssueOfPublication.latestForDiscovery6dc1adf6-a887-4756-83b5-e07ca87ceb3b
relation.isJournalOfPublication6f9be05c-05a9-4a3e-a5b5-a19a15ab042c

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