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

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 charact...

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Detalles Bibliográficos
Autores principales: Schoch, Kelly, McConkie-Rosell, Allyn, Walley, Nicole, Bhambhani, Vikas, Feyma, Timothy, Pizoli, Carolyn E., Smith, Edward C., Tan, Queenie K.-G., Shashi, Vandana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10476425/
https://www.ncbi.nlm.nih.gov/pubmed/37667351
http://dx.doi.org/10.1186/s13023-023-02891-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10476425/
https://www.ncbi.nlm.nih.gov/pubmed/37667351
http://dx.doi.org/10.1186/s13023-023-02891-3

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