GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
about
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathiesRecent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practiceAdvancing epilepsy genetics in the genomic eraGenetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental modelsEpileptic encephalopathies: new genes and new pathwaysGRIN2A: an aptly named gene for speech dysfunctionStructural basis of kainate subtype glutamate receptor desensitization.Progress in autoimmune epileptic encephalitisSeizures and Epilepsies due to Channelopathies and Neurotransmitter Receptor Dysfunction: A Parallel between Genetic and Immune AspectsShould epileptiform discharges be treated?GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel BlockersA novel approach identifies the first transcriptome networks in bats: a new genetic model for vocal communication.Mechanism of NMDA Receptor Inhibition and Activation.Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairmentGRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.Functional Properties of Human NMDA Receptors Associated with Epilepsy-Related Mutations of GluN2A Subunit.Mechanical coupling maintains the fidelity of NMDA receptor-mediated currentsAutism spectrum disorder and epileptic encephalopathy: common causes, many questions.Defective auditory processing in a child with temporal epileptic focus.Somatic mutation of GRIN2A in malignant melanoma results in loss of tumor suppressor activity via aberrant NMDAR complex formation.Glycine transporters as novel therapeutic targets in schizophrenia, alcohol dependence and pain.The hidden genetics of epilepsy-a clinically important new paradigm.Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.Monogenic and chromosomal causes of isolated speech and language impairment.Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes.[New aspects in the field of epilepsy].Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.Autism spectrum disorder and epilepsy: Disorders with a shared biology.MPX-004 and MPX-007: New Pharmacological Tools to Study the Physiology of NMDA Receptors Containing the GluN2A Subunit.An Integrated Approach for Screening and Identification of Positive Allosteric Modulators of N-Methyl-D-Aspartate Receptors.A practical, simple, and useful method of categorizing interictal EEG features in children.Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA.Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.Autism Spectrum Disorder and Epilepsy: Two Sides of the Same Coin?A roadmap for precision medicine in the epilepsies.Genetic forms of epilepsies and other paroxysmal disordersDelineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
P2860
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P2860
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
GRIN2A mutations in acquired e ...... eech and language dysfunction.
@en
GRIN2A mutations in acquired e ...... eech and language dysfunction.
@nl
type
label
GRIN2A mutations in acquired e ...... eech and language dysfunction.
@en
GRIN2A mutations in acquired e ...... eech and language dysfunction.
@nl
prefLabel
GRIN2A mutations in acquired e ...... eech and language dysfunction.
@en
GRIN2A mutations in acquired e ...... eech and language dysfunction.
@nl
P2093
P50
P356
P1433
P1476
GRIN2A mutations in acquired e ...... eech and language dysfunction.
@en
P2093
Alexis Arzimanoglou
Anne Michel
Anne de Saint Martin
Audrey Labalme
Diane Doummar
Dorothee Ville
Edouard Hirsch
Gaetan Lesca
Jacques Motte
P2888
P304
P356
10.1038/NG.2726
P407
P50
P577
2013-08-11T00:00:00Z