Cargando…

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,...

Descripción completa

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

Ejemplares similares

Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment
por: Zhou, Bingbo, et al.
Publicado: (2021)

A novel heterozygous SIX1 missense mutation resulted in non-syndromic unilateral hearing loss
por: Li, Ang, et al.
Publicado: (2022)

Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome
por: Ismail, Vardha, et al.
Publicado: (2022)

A gain‐of‐function GRIA2 variant associated with neurodevelopmental delay and seizures: Functional characterization and targeted treatment
por: Coombs, Ian D., et al.
Publicado: (2022)

Identification of a De Novo Heterozygous Missense ACTB Variant in Baraitser–Winter Cerebrofrontofacial Syndrome
por: Nie, Kailai, et al.
Publicado: (2022)

Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis
por: Naseer, Muhammad Imran, et al.
Publicado: (2020)

Case-control study of GRIA1 and GRIA3 gene variants in migraine
por: Fang, Jie, et al.
Publicado: (2016)

Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders
por: Cao, Ye, et al.
Publicado: (2022)

A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity
por: Guo, Yi, et al.
Publicado: (2020)

Case Report: Identification of a Novel Heterozygous Missense Mutation in COL4A3 Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family
por: Hu, Yanglin, et al.
Publicado: (2022)

Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility
por: Formicola, Daniela, et al.
Publicado: (2010)

Abnormal gait and hypoglycorrhachia in a toddler with seizures
por: Angeli, Maria, et al.
Publicado: (2022)

Novel Variant Expands the Clinical Spectrum of CUX2-Associated Developmental and Epileptic Encephalopathies
por: Zhang, Feng, et al.
Publicado: (2022)

Case Report: Compound Heterozygous Phosphatidylinositol-Glycan Biosynthesis Class N (PIGN) Mutations in a Chinese Fetus With Hypotonia-Seizures Syndrome 1
por: Xiao, Shi-qi, et al.
Publicado: (2020)

Expansion of the mutation spectrum and phenotype of USP7-related neurodevelopmental disorder
por: Zheng, Hong, et al.
Publicado: (2022)

De novo missense variant in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy
por: Latsko, Maeson S., et al.
Publicado: (2022)

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
por: Snijders Blok, Lot, et al.
Publicado: (2022)

Case Report: Identification Pathogenic Abnormal Splicing of BBS1 Causing Bardet–Biedl Syndrome Type I (BBS1) due to Missense Mutation
por: Yan, Kai, et al.
Publicado: (2022)

Case Report: A Novel Heterozygous ZP3 Deletion Associated With Empty Follicle Syndrome and Abnormal Follicular Development
por: Chen, Yongzhe, et al.
Publicado: (2021)

The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review
por: Lopes, Fátima, et al.
Publicado: (2019)

The Role of Non-Coding RNAs in Neurodevelopmental Disorders
por: Zhang, Shuang-Feng, et al.
Publicado: (2019)

Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay
por: Jiao, Xianru, et al.
Publicado: (2020)

Quantitative analysis of Gria1, Gria2, Dlg1 and Dlg4 expression levels in hippocampus following forced swim stress in mice
por: Freudenberg, Florian
Publicado: (2019)

Absence seizures in C3H/HeJ and knockout mice caused by mutation of the AMPA receptor subunit Gria4
por: Beyer, Barbara, et al.
Publicado: (2008)

Prenatal diagnosis of 21 fetuses with balanced chromosomal abnormalities (BCAs) using whole-genome sequencing
por: Fu, Fang, et al.
Publicado: (2022)

Heterozygous HTRA1 missense mutation in CADASIL-like family disease
por: Wu, Xiaowei, et al.
Publicado: (2018)

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy
por: Luppe, Johannes, et al.
Publicado: (2022)

Viscera Characteristics of MSTN-Edited Heterozygous Pigs
por: Pei, Yangli, et al.
Publicado: (2022)

Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher–Neuhäuser Syndrome
por: He, Junyu, et al.
Publicado: (2022)

Editorial: Structural understanding of the functional consequences of missense mutation
por: Tian, Jian, et al.
Publicado: (2023)

Heterozygous PGM3 Variants Are Associated With Idiopathic Focal Epilepsy With Incomplete Penetrance
por: Liu, Xiao-Rong, et al.
Publicado: (2020)

Novel Compound Heterozygous TMPRSS15 Gene Variants Cause Enterokinase Deficiency
por: Wang, Lan, et al.
Publicado: (2020)

Benign Tumors Associated With Heterozygous NTHL1 Variant
por: Anderson, Danyon J, et al.
Publicado: (2021)

Case report: A heterozygous mutation in ZNF462 leads to growth hormone deficiency
por: Zhou, Yikun, et al.
Publicado: (2022)

Identification of a Novel NOG Missense Mutation in a Chinese Family With Symphalangism and Tarsal Coalitions
por: Xiong, Jing, et al.
Publicado: (2019)

A Chinese family with congenital Dysfibrinogenemia carries a heterozygous missense mutation in FGA: Concerning the genetic abnormality and clinical treatment
por: Zhou, Jihao, et al.
Publicado: (2017)

Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review
por: Miller, Dustin B., et al.
Publicado: (2020)

Second Case of Tumors Associated With Heterozygous NTHL1 Variant
por: Anderson, Danyon J, et al.
Publicado: (2022)

Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia
por: Yang, Yanting, et al.
Publicado: (2022)

A homozygous missense variant in DND1 causes non-obstructive azoospermia in humans
por: Xie, Xuefeng, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_bg3kunc7i00ng9058qcipnsm3i