Search

  • HOME
  • Search
Case Report
Transient neonatal diabetes mellitus caused by a de novo ABCC8 gene mutation
Jung Hyun Kong, June Bum Kim
Clin Exp Pediatr. 2011;54(4):179-182.   Published online April 30, 2011

Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes mellitus that presents within the first 6 months of life with remission in infancy or early childhood. TNDM is mainly caused by anomalies in the imprinted region on chromosome 6q24; however, recently, mutations in the ABCC8 gene, which encodes sulfonylurea receptor 1 (SUR1), have also been implicated in TNDM....

An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A
Yang Hee Park, June Bum Kim
Clin Exp Pediatr. 2010;53(10):909-912.   Published online October 31, 2010

Familial hypokalemic periodic paralysis is an autosomal-dominant channelopathy characterized by episodic muscle weakness with hypokalemia. The respiratory and cardiac muscles typically remain unaffected, but we report an atypical case of a family with hypokalemic periodic paralysis in which the affected members presented with frequent respiratory insufficiency during severe attacks. Molecular analysis revealed a heterozygous c.664 C>T transition in the sodium...



TOPICS

Browse all articles >

ARTICLE CATEGORY

Browse all articles >

BROWSE ARTICLES
FOR CONTRIBUTORS
ABOUT
Editorial Office
Korean Pediatric Society
#1606 Seocho World Officetel, 19 Seoun-ro, Seocho-ku, Seoul 06732, Korea
Tel: +82-2-3473-7306    Fax: +82-2-3473-7307    E-mail: office@e-cep.org                

Clinical and Experimental Pediatrics is an open access journal. All articles are distributed under the terms of the Creative Commons Attribution NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/)

Copyright © 2025 by Korean Pediatric Society.      Developed in M2PI