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

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

Abstract Background 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 feature is episodic extreme irritability and inconsolability. We now...

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Bibliographic Details
Main Authors: Kelly Schoch, Allyn McConkie-Rosell, Nicole Walley, Vikas Bhambhani, Timothy Feyma, Undiagnosed Diseases Network, Carolyn E. Pizoli, Edward C. Smith, Queenie K.-G. Tan, Vandana Shashi
Format: Article
Language:English
Published: BMC 2023-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
NACC1
Extreme irritability
NECFM
Episodic irritability
Agitation
Paroxysmal sympathetic hyperactivity
Online Access:https://doi.org/10.1186/s13023-023-02891-3

Internet

https://doi.org/10.1186/s13023-023-02891-3

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