PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling

Severe phenotypic spectrum of biallelic mutations inPRRT2gene

(2015) Marion Delcourt et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Analysis of polyamines in biological samples by HPLC involving pre-column derivatization with o-phthalaldehyde and N-acetyl-l-cysteine

(2014) Zhaolai Dai et al.   AMINO ACIDS

PRRT2 Mutations Are Related to Febrile Seizures in Epileptic Patients

(2014) Zheng-Wen He et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Child Neurology: PRRT2-associated movement disorders and differential diagnoses

(2014) D. Ebrahimi-Fakhari et al.   NEUROLOGY

Comparison of concentrations of γ-aminobutyric acid and glutamate in cerebrospinal fluid of dogs with idiopathic epilepsy with and without seizure-related magnetic resonance imaging hyperintense areas in the limbic system

(2013) Kate E. Creevy et al.   AMERICAN JOURNAL OF VETERINARY RESEARCH

Randomized, multicenter trial to assess the efficacy, safety and tolerability of a single dose of a novel AMPA receptor antagonist BGG492 for the treatment of acute migraine attacks

(2013) Baltazar Gomez-Mancilla et al.   CEPHALALGIA

Receptor trafficking hypothesis revisited: Plasticity of AMPA receptors during established status epilepticus

(2013) Karthik Rajasekaran et al.   EPILEPSIA

PRRT2mutations and paroxysmal disorders

(2013) A. Méneret et al.   EUROPEAN JOURNAL OF NEUROLOGY

BGG492 (selurampanel), an AMPA/kainate receptor antagonist drug for epilepsy

(2013) Edward Faught   EXPERT OPINION ON INVESTIGATIONAL DRUGS

NOX2 deficiency ameliorates cerebral injury through reduction of complexin II-mediated glutamate excitotoxicity in experimental stroke

(2013) Ziying Wang et al.   FREE RADICAL BIOLOGY AND MEDICINE

Role ofPRRT2in common paroxysmal neurological disorders: a gene with remarkable pleiotropy

(2013) Sarah E Heron et al.   JOURNAL OF MEDICAL GENETICS

Effect of Buyang Huanwu decoction on amino acid content in cerebrospinal fluid of rats during ischemic/reperfusion injury

(2013) Lisheng Wang et al.   JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS

PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response

(2013) H.-F. Li et al.   NEUROLOGY

The role of GluA1 in central nervous system disorders

(2013) Jingli Zhang et al.   REVIEWS IN THE NEUROSCIENCES

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

(2012) Sarah E. Heron et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia

(2012) Hsien-yang Lee et al.   JOURNAL OF CLINICAL INVESTIGATION

High-Resolution Proteomics Unravel Architecture and Molecular Diversity of Native AMPA Receptor Complexes

(2012) Jochen Schwenk et al.   NEURON

The Dispanins: A Novel Gene Family of Ancient Origin That Contains 14 Human Members

(2012) Markus Sällman Almén et al.   PLoS One

Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

(2012) Hsien-Yang Lee et al.   Cell Reports

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

(2011) J.-L. Wang et al.   BRAIN

Neurotherapeutics to inhibit exocytosis from sensory neurons for the control of chronic pain

(2011) J Oliver Dolly et al.   CURRENT OPINION IN PHARMACOLOGY

Targeted genomic sequencing identifiesPRRT2mutations as a cause of paroxysmal kinesigenic choreoathetosis

(2011) Jingyun Li et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

(2011) Wan-Jin Chen et al.   NATURE GENETICS

Stargazin and AMPA receptor membrane expression is increased in the somatosensory cortex of Genetic Absence Epilepsy Rats from Strasbourg

(2011) J.T.T. Kennard et al.   NEUROBIOLOGY OF DISEASE

Alteration of Plasma Glutamate and Glutamine Levels in Children with High-Functioning Autism

(2011) Chie Shimmura et al.   PLoS One

Downstream of tyrosine kinase/docking protein 6, as a novel substrate of tropomyosin-related kinase C receptor, is involved in neurotrophin 3-mediated neurite outgrowth in mouse cortex neurons

(2010) Wei Li et al.   BMC BIOLOGY

Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility

(2010) Daniela Formicola et al.   BMC Medical Genetics

SynDIG1: An Activity-Regulated, AMPA- Receptor-Interacting Transmembrane Protein that Regulates Excitatory Synapse Development

(2010) Evgenia Kalashnikova et al.   NEURON

Acute neuroprotection by the synaptic blocker botulinum neurotoxin E in a rat model of focal cerebral ischaemia

(2010) F. Antonucci et al.   NEUROSCIENCE

Distribution of the SNAP25 and SNAP23 synaptosomal-associated protein isoforms in rat cerebellar cortex

(2009) G. Mandolesi et al.   NEUROSCIENCE

Effective Prophylactic Treatments of Migraine Lower Plasma Glutamate Levels

(2008) A Ferrari et al.   CEPHALALGIA

Decreased hippocampal volume on MRI is associated with increased extracellular glutamate in epilepsy patients

(2008) Idil Cavus et al.   EPILEPSIA

Heterogeneous expression of SNAP-25 in rat and human brain

(2007) Rita Garbelli et al.   JOURNAL OF COMPARATIVE NEUROLOGY