ea0029p431 | Clinical case reports - Thyroid/Others | ICEECE2012
Giestas A.
, Borges T.
, Oliveira M.
, Guimaraes A.
, Cardoso H.
Introduction: Neonatal diabetes is a rare condition diagnosed within the first months of life. Activating mutation of KCNJ11, the gene encoding the Ki6.2 subunit of the ATP-sensitive potassium channel, is the most common cause of permanent neonatal diabetes, and ~20% of patients have neurological features.Patients with the severe neurological phenotype exhibit developmental delay, motor weakness, and epilepsy in addition to diabetes (DEND syndrome). Inte...