Novel Heterozygous Missense Variant in GRIA4 Gene Associated With Neurodevelopmental Disorder With or Without Seizures and Gait Abnormalities

Objective: Neurodevelopmental disorder with or without seizure and gait abnormalities (NEDSGA, MIM * 617864) is a newly described autosomal dominant inherited disease caused by a heterozygous variant in the GRIA4 gene. GRIA4 plays an essential role in excitatory synaptic transmission. In this study,...

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Detalles Bibliográficos
Autores principales: Wang, Hua, Liu, Jiatong, Li, Fuwei, Teng, Ziteng, Liu, Mingyu, Gu, Weiyue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9065404/
https://www.ncbi.nlm.nih.gov/pubmed/35518358
http://dx.doi.org/10.3389/fgene.2022.859140

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9065404/
https://www.ncbi.nlm.nih.gov/pubmed/35518358
http://dx.doi.org/10.3389/fgene.2022.859140

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