DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea

Permanent neonatal diabetes mellitus (PNDM) is caused by mutations in the ATP-sensitive potassium channel (K(ATP) 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...

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Detalhes bibliográficos
Publicado no:J Korean Med Sci
Main Authors: Cho, Ja Hyang, Kang, Eungu, Lee, Beom Hee, Kim, Gu-Hwan, Choi, Jin-Ho, Yoo, Han-Wook
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Academy of Medical Sciences 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5426229/
https://ncbi.nlm.nih.gov/pubmed/28480665
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2017.32.6.1042
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