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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Detalles Bibliográficos
Autores principales: Cho, Ja Hyang, Kang, Eungu, Lee, Beom Hee, Kim, Gu-Hwan, Choi, Jin-Ho, Yoo, Han-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5426229/
https://www.ncbi.nlm.nih.gov/pubmed/28480665
http://dx.doi.org/10.3346/jkms.2017.32.6.1042

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5426229/
https://www.ncbi.nlm.nih.gov/pubmed/28480665
http://dx.doi.org/10.3346/jkms.2017.32.6.1042

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