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

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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Bibliographic Details
Main Authors: Hua Wang, Jiatong Liu, Fuwei Li, Ziteng Teng, Mingyu Liu, Weiyue Gu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-04-01
Series:Frontiers in Genetics
Subjects:
GRIA4
NEDSGA
neurodevelopmental disorder
trio-whole exome sequencing
novel heterozygous missense variant
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.859140/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.859140/full

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