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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...

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