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Open AccessParental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1
A recurrent de novo variant (c.892C>T) in NACC1 causes a neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination (NECFM). An unusual and consistently reported fea...
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Article
Opioid and benzodiazepine use during therapeutic hypothermia in encephalopathic neonates
To evaluate the use of sedatives and analgesics during therapeutic hypothermia in encephalopathic neonates and assess associations between medication exposure and hospital outcomes.
