Cargando…

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine

OBJECTIVE: Early-onset epileptic encephalopathies have been associated with de novo mutations of numerous ion channel genes. We employed techniques of modern translational medicine to identify a disease-causing mutation, analyze its altered behavior, and screen for therapeutic compounds to treat the...

Descripción completa

Detalles Bibliográficos
Autores principales:	Pierson, Tyler Mark, Yuan, Hongjie, Marsh, Eric D, Fuentes-Fajardo, Karin, Adams, David R, Markello, Thomas, Golas, Gretchen, Simeonov, Dimitre R, Holloman, Conisha, Tankovic, Anel, Karamchandani, Manish M, Schreiber, John M, Mullikin, James C, Tifft, Cynthia J, Toro, Camilo, Boerkoel, Cornelius F, Traynelis, Stephen F, Gahl, William A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BlackWell Publishing Ltd 2014
Materias:	Research Papers
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4019449/ https://www.ncbi.nlm.nih.gov/pubmed/24839611 http://dx.doi.org/10.1002/acn3.39

Ejemplares similares

Functional Analysis of a De Novo GRIN2A Missense Mutation Associated with Early-onset Epileptic Encephalopathy
por: Yuan, Hongjie, et al.
Publicado: (2014)

A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia
por: Gao, Kai, et al.
Publicado: (2017)

GRIN1 Mutations in Early-Onset Epileptic Encephalopathy
por: Chen, Wenjuan, et al.
Publicado: (2015)

Distinct roles of GRIN2A and GRIN2B variants in neurological conditions
por: Myers, Scott J, et al.
Publicado: (2019)

Human GRIN2B variants in neurodevelopmental disorders
por: Hu, Chun, et al.
Publicado: (2016)

Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data
por: Cherukuri, Praveen F., et al.
Publicado: (2015)

The implications of familial incidental findings from exome sequencing: The NIH Undiagnosed Diseases Program experience
por: Lawrence, Lauren, et al.
Publicado: (2014)

Correction: Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases
por: Pierson, Tyler Mark, et al.
Publicado: (2013)

Recurrent seizure‐related GRIN1 variant: Molecular mechanism and targeted therapy
por: Xu, Yuchen, et al.
Publicado: (2021)

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases
por: Pierson, Tyler Mark, et al.
Publicado: (2011)

Clinical Forms and GRIN2A Genotype of Severe End of Epileptic-Aphasia Spectrum Disorder
por: Li, Xiao, et al.
Publicado: (2020)

The NIH Undiagnosed Diseases Program: bonding scientists and clinicians
por: Gahl, William A., et al.
Publicado: (2012)

Three-photon excited fluorescence imaging of unstained tissue using a GRIN lens endoscope
por: Huland, David M., et al.
Publicado: (2013)

Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function
por: Myers, Scott J, et al.
Publicado: (2023)

Successful pregnancy after mucinous cystic neoplasm with invasive carcinoma of the pancreas in a patient with polycystic ovarian syndrome: a case report
por: Holloman, Conisha, et al.
Publicado: (2017)

A de novo GRIN1 Variant Associated With Myoclonus and Developmental Delay: From Molecular Mechanism to Rescue Pharmacology
por: Zhang, Jin, et al.
Publicado: (2021)

Identification of a novel GRIN2D variant in a neonate with intractable epileptic encephalopathy-a case report
por: Jiao, Jiancheng, et al.
Publicado: (2021)

Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons
por: Camp, Chad R., et al.
Publicado: (2023)

Assessment of NMDA receptor genes (GRIN2A, GRIN2B and GRIN2C) as candidate genes in the development of degenerative lumbar scoliosis
por: KIM, KI-TACK, et al.
Publicado: (2013)

Study of Early Onset Schizophrenia: Associations of GRIN2A and GRIN2B Polymorphisms
por: Poltavskaya, Evgeniya G., et al.
Publicado: (2021)

Successful Treatment of a Child With Epileptic Encephalopathy With Spike-Wave Activation in Sleep and GRIN2A Variant Using Sulthiame
por: Pereira-Nunes, Joana, et al.
Publicado: (2023)

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
por: Fry, Andrew E, et al.
Publicado: (2018)

Efavirenz restored NMDA receptor dysfunction and inhibited epileptic seizures in GluN2A/Grin2a mutant mice
por: Zhao, Teng, et al.
Publicado: (2023)

Selected single-nucleotide variants in GRIN1, GRIN2A, and GRIN2B encoding subunits of the NMDA receptor are not biomarkers of schizophrenia resistant to clozapine: exploratory study
por: Krzystanek, Marek, et al.
Publicado: (2020)

Memantine combined with an acetyl cholinesterase inhibitor – hope for the future?
por: Fox, Chris, et al.
Publicado: (2006)

Novel Treatment of Small-Cell Neuroendocrine of the Vagina
por: Kostamo, Kathryn, et al.
Publicado: (2018)

Exploratory study of selected nucleotide variants in GRIN1, GRIN2A and GRIN2B encoding subunits of the NMDA receptor in a targeted group of schizophrenia patients with chronic cognitive impairment
por: Krzystanek, Marek, et al.
Publicado: (2020)

Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Disease Program experience
por: Lee, Elizabeth M.J., et al.
Publicado: (2016)

Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum
por: Santos-Gómez, Ana, et al.
Publicado: (2021)

Pharmacodynamics of Memantine: An Update
por: Rammes, G, et al.
Publicado: (2008)

Evaluating the efficacy of memantine on improving cognitive functions in epileptic patients receiving anti-epileptic drugs: A double-blind placebo-controlled clinical trial (Phase IIIb pilot study)
por: Marimuthu, Priya, et al.
Publicado: (2016)

F11. TRANSLATIONAL STUDY OF GRIN1, GRIN2A AND 2B GENE EXPRESSION IN PATIENTS WITH SCHIZOPHRENIA AND ANIMAL MODELS
por: Marcelino, Loureiro Camila, et al.
Publicado: (2018)

PiezoGRIN: A High‐Pressure Chamber Incorporating GRIN Lenses for High‐Resolution 3D‐Microscopy of living Cells and Tissues
por: Schneidereit, Dominik, et al.
Publicado: (2018)

"GRIN" - a simple command language for graphic interaction
por: Barta, G
Publicado: (1977)

Geometry-invariant GRIN lens: iso-dispersive contours
por: Bahrami, Mehdi, et al.
Publicado: (2012)

Association of genetic variants of GRIN2B with autism
por: Pan, Yongcheng, et al.
Publicado: (2015)

Experimental exchange of grins between quantum Cheshire cats
por: Liu, Zheng-Hao, et al.
Publicado: (2020)

High Refractive Index GRIN Lens for IR Optics
por: Kang, Yan, et al.
Publicado: (2023)

Gestational Chronodisruption Impairs Hippocampal Expression of NMDA Receptor Subunits Grin1b/Grin3a and Spatial Memory in the Adult Offspring
por: Vilches, Nelson, et al.
Publicado: (2014)

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
por: Bone, William P., et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_sh88ag85c6fhnrn9keo4seg5u0