Cargando…

Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome

Hyperekplexia is a rare neurological disorder characterized by exaggerated startle responses affecting newborns with the hallmark characteristics of hypertonia, apnea, and noise or touch-induced nonepileptic seizures. The genetic causes of the disease can vary, and several associated genes and mutat...

Descripción completa

Detalles Bibliográficos
Autores principales:	Aboheimed, Ghada I., AlRasheed, Maha M., Almudimeegh, Sultan, Peña-Guerra, Karla A., Cardona-Londoño, Kelly J., Salih, Mustafa A., Seidahmed, Mohammed Z., Al-Mohanna, Futwan, Colak, Dilek, Harvey, Robert J., Harvey, Kirsten, Arold, Stefan T., Kaya, Namik, Ruiz, Arnaud J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society for Biochemistry and Molecular Biology 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9241032/ https://www.ncbi.nlm.nih.gov/pubmed/35526563 http://dx.doi.org/10.1016/j.jbc.2022.102018

Ejemplares similares

A novel syndrome of lethal familial hyperekplexia associated with brain malformation
por: Seidahmed, Mohammed Zein, et al.
Publicado: (2012)

A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts
por: Aldhalaan, Hesham, et al.
Publicado: (2021)

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report
por: Seidahmed, Mohammed Zain, et al.
Publicado: (2016)

The impact of human hyperekplexia mutations on glycine receptor structure and function
por: Bode, Anna, et al.
Publicado: (2014)

Sporadic hyperekplexia due to self-limiting brainstem encephalopathy
por: Yilmaz, Dilek, et al.
Publicado: (2017)

Sporadic Hyperekplexia Plus Syndrome
por: Chandra, Sadanandavalli Retnaswami, et al.
Publicado: (2017)

Breast stromal fibroblasts from histologically normal surgical margins are pro-carcinogenic
por: Al-Rakan, Maha A, et al.
Publicado: (2013)

Induction of cell proliferation in old rat liver can reset certain gene expression levels characteristic of old liver to those associated with young liver
por: Chishti, Muhammad A., et al.
Publicado: (2012)

Quality of Life, Fatigue, and Physical Symptoms Post-COVID-19 Condition: A Cross-Sectional Comparative Study
por: AlRasheed, Maha M., et al.
Publicado: (2023)

Hyperekplexia: A Treatable Seizure Mimicker in Infants
por: Dudipala, Sai Chandar, et al.
Publicado: (2023)

Not every excessive startle is hyperekplexia, the curious case of SOD1
por: van der Veen, Sterre, et al.
Publicado: (2020)

Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15)
por: Seidahmed, Mohammed Z., et al.
Publicado: (2020)

A Confusing Coincidence: Neonatal Hypoglycemic Seizures and Hyperekplexia
por: Demir, Nihat, et al.
Publicado: (2014)

Hyperekplexia with congenital heart disease: anesthetic concerns and management
por: Kaur, Manbir, et al.
Publicado: (2022)

Inhibition of Reactive Gliosis Prevents Neovascular Growth in the Mouse Model of Oxygen-Induced Retinopathy
por: DeNiro, Michael, et al.
Publicado: (2011)

Factors impeding the supply of over-the-counter medications according to evidence-based practice: A mixed-methods study
por: Aloudah, Nouf, et al.
Publicado: (2020)

Nuclear Factor Kappa-B Signaling Is Integral to Ocular Neovascularization in Ischemia-Independent Microenvironment
por: DeNiro, Michael, et al.
Publicado: (2014)

Zinc Transporter 8 (ZnT8) Expression Is Reduced by Ischemic Insults: A Potential Therapeutic Target to Prevent Ischemic Retinopathy
por: DeNiro, Michael, et al.
Publicado: (2012)

The Nexus between VEGF and NFκB Orchestrates a Hypoxia-Independent Neovasculogenesis
por: DeNiro, Michael, et al.
Publicado: (2013)

Disturbances of Ligand Potency and Enhanced Degradation of the Human Glycine Receptor at Affected Positions G160 and T162 Originally Identified in Patients Suffering from Hyperekplexia
por: Atak, Sinem, et al.
Publicado: (2015)

Evaluation of the role of CDKN2B gene in type 2 diabetes mellitus and hypertension in ethnic Saudi Arabs
por: AlRasheed, Maha Meshal
Publicado: (2018)

TSH-β gene polymorphism in Saudi patients with thyroid cancer: A case-control study
por: AlRasheed, Maha M.
Publicado: (2022)

The interplay of intracellular calcium and zinc ions in response to electric field stimulation in primary rat cortical neurons in vitro
por: Alshawaf, Abdullah J., et al.
Publicado: (2023)

Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder
por: Lopez, Régis, et al.
Publicado: (2019)

Novel mutations in SLC6A5 with benign course in hyperekplexia
por: Dafsari, Hormos Salimi, et al.
Publicado: (2019)

GLRA1 mutation and long-term follow-up of the first hyperekplexia family
por: Paucar, Martin, et al.
Publicado: (2018)

β Subunit M2–M3 Loop Conformational Changes Are Uncoupled from α1 β Glycine Receptor Channel Gating: Implications for Human Hereditary Hyperekplexia
por: Shan, Qiang, et al.
Publicado: (2011)

Identification of Gene Signature as Diagnostic and Prognostic Blood Biomarker for Early Hepatocellular Carcinoma Using Integrated Cross-Species Transcriptomic and Network Analyses
por: Al-Harazi, Olfat, et al.
Publicado: (2021)

Glycine Transporters and Receptors as Targets for Analgesics
por: Harvey, Robert J., et al.
Publicado: (2021)

C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia: A case report
por: Zhang, Yan, et al.
Publicado: (2020)

A Case of Hyperekplexia That Started From Childhood: Clinical Diagnosis With Negative Genetic Investigations
por: Antonioni, Annibale, et al.
Publicado: (2020)

Decellularization of Full Heart—Optimizing the Classical Sodium-Dodecyl-Sulfate-Based Decellularization Protocol
por: Al-Hejailan, Reem, et al.
Publicado: (2022)

Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report
por: Horváth, Emese, et al.
Publicado: (2014)

Unique Severe HyperEkplexia-Like Apneic Events (SHELAE) Improved by High-Dose Piracetam
por: Krishnappa, Janardhan, et al.
Publicado: (2021)

SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature
por: AlHargan, Aljouhra, et al.
Publicado: (2023)

Radioiodinated Naphthylalanine Derivatives Targeting Pancreatic Beta Cells in Normal and Nonobese Diabetic Mice
por: Amartey, John K., et al.
Publicado: (2008)

Partner in fat metabolism: role of KLFs in fat burning and reproductive behavior
por: Hashmi, Sarwar, et al.
Publicado: (2011)

Glycine and Glycine Receptor Signalling in Non-Neuronal Cells
por: den Eynden, Jimmy Van, et al.
Publicado: (2009)

Serum β(2)-microglobulin levels in Coronavirus disease 2019 (Covid-19): Another prognosticator of disease severity?
por: Conca, Walter, et al.
Publicado: (2021)

The interactive role of type 2 diabetes mellitus and E-selectin S128R mutation on susceptibility to coronary heart disease
por: Abu-Amero, Khaled K, et al.
Publicado: (2007)

Cannot write session to /tmp/vufind_sessions/sess_2jt4p6p1qiaqlnvqtbrlpnbl16