De novo missense variant in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy

De novo variants are increasingly recognized as a common cause of early infantile epileptic encephalopathies. We present a 4-yr-old male with epileptic encephalopathy characterized by seizures, autism spectrum disorder, and global developmental delay. Whole-genome sequencing of the proband and his u...

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Detalles Bibliográficos
Autores principales: Latsko, Maeson S., Koboldt, Daniel C., Franklin, Samuel J., Hickey, Scott E., Williamson, Rachel K., Garner, Shannon, Ostendorf, Adam P., Lee, Kristy, White, Peter, Wilson, Richard K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235849/
https://www.ncbi.nlm.nih.gov/pubmed/35534222
http://dx.doi.org/10.1101/mcs.a006172

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235849/
https://www.ncbi.nlm.nih.gov/pubmed/35534222
http://dx.doi.org/10.1101/mcs.a006172

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