Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.

Kelly SchochAllyn McConkie-RosellNicole WalleyVikas BhambhaniTimothy Feymanull nullCarolyn E PizoliEdward C SmithQueenie K-G TanVandana Shashi

Published in: Orphanet journal of rare diseases (2023)

NECFM caused by the recurrent variant c.892C>T is associated with a universal feature of incapacitating episodic irritability of unclear etiology. Further understanding of the pathophysiology can lead to more effective therapeutic strategies.

Keyphrases

machine learning
high resolution
genome wide
deep learning
copy number
dna methylation
mass spectrometry
neural network