Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D‐related neurodevelopmental disorder

Sudnawa, K. K., Pini, N., Li, W., Kanner, C. H., Ryu, J., Calamia, S., Bain, J. M., Goldman, S., Montes, J., Shen, Y., & Chung, W. K. (2024). Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D‐related neurodevelopmental disorder. Clinical Genetics. Portico. https://doi.org/10.1111/cge.14612
Authors:
Khemika K. Sudnawa
Nicolò Pini
Wenxing Li
Cara H. Kanner
Joseph Ryu
Sean Calamia
Jennifer Bain
Sylvie Goldman
Jacqueline Montes
Wendy K. Chung
Wendy K. Chung
Affiliated Authors:
Nicolò Pini
Wenxing Li
Cara H. Kanner
Joseph Ryu
Sean Calamia
Jennifer Bain
Sylvie Goldman
Jacqueline Montes
Wendy K. Chung
Columbia Affiliation:
Subjects:
Molecular Basis of Rett Syndrome and Related Disorders (OpenAlex Topic)
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
Autism Spectrum Disorders (OpenAlex Topic)
Author Keywords:
adaptive function
autism
behavioral problems
developmental delay
electroencephalogram (eeg)
macrocephaly
neurodevelopmental disorder
ppp2r5d
seizure
elink
Publication Type:
Article
Unique ID:
10.1111/cge.14612
PMID:
39169681
DOI:
10.1111/cge.14612
Journal:
Clinical Genetics
Publication Date:
Data Source:
OpenAlex
Source Link:
View OpenAlex Record
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Record Created: