@article{Tsuchida2018538,
title = {GRIN2D variants in three cases of developmental and epileptic encephalopathy},
author = {N Tsuchida and K Hamada and M Shiina and M Kato and Y Kobayashi and J Tohyama and K Kimura and K Hoshino and V Ganesan and K W Teik and M Nakashima and S Mitsuhashi and T Mizuguchi and A Takata and N Miyake and H Saitsu and K Ogata and S Miyatake and N Matsumoto},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85056487337&doi=10.1111%2fcge.13454&partnerID=40&md5=f0d32670db57261820bc244943cffd62},
doi = {10.1111/cge.13454},
issn = {00099163},
year = {2018},
date = {2018-01-01},
journal = {Clinical Genetics},
volume = {94},
number = {6},
pages = {538-547},
publisher = {Blackwell Publishing Ltd},
abstract = {N-methyl-d-aspartate (NMDA) receptors are glutamate-activated ion channels that are widely distributed in the central nervous system and essential for brain development and function. Dysfunction of NMDA receptors has been associated with various neurodevelopmental disorders. Recently, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. In this study, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy. All altered residues were highly conserved across vertebrates and among the four GluN2 subunits. Structural consideration indicated that all three variants are probably to impair GluN2D function, either by affecting intersubunit interaction or altering channel gating activity. We assessed the clinical features of our three cases and compared them to those of the two previously reported GRIN2D variant cases, and found that they all show similar clinical features. This study provides further evidence of GRIN2D variants being causal for epilepsy. Genetic diagnosis for GluN2-related disorders may be clinically useful when considering drug therapy targeting NMDA receptors. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd},
note = {cited By 4},
keywords = {Adolescent, Allele, Amino Acid Sequence, Amino Acid Substitution, Amino Terminal Sequence, Anemia, Antibiotic Agent, Antibiotic Therapy, Article, Atonic Seizure, Attention Deficit Disorder, Autism, Binding Affinity, Brain, Brain Atrophy, Carbamazepine, Case Report, Channel Gating, Chemistry, Children, Clinical Article, Clinical Feature, Clobazam, Clonazepam, Conformational Transition, Continuous Infusion, Contracture, Crystal Structure, Cysteine Ethyl Ester Tc 99m, Developmental Delay, Developmental Disorders, Electroencephalogram, Electroencephalography, Epilepsy, Epileptic Discharge, Ethosuximide, Eye Tracking, Febrile Convulsion, Female, Frontal Lobe Epilepsy, Gene, Gene Frequency, Genetic Variation, Genetics, Genotype, GRIN2D Protein, Heterozygosity, Home Oxygen Therapy, Human, Human Cell, Hydrogen Bond, Intellectual Impairment, Intelligence Quotient, Intractable Epilepsy, Ketamine, Lacosamide, Lamotrigine, Lennox Gastaut Syndrome, Levetiracetam, Magnetoencephalography, Male, Maternal Hypertension, Melatonin, Migraine, Missense Mutation, Molecular Dynamics, Molecular Dynamics Simulation, Mutation, Myoclonus Seizure, N Methyl Dextro Aspartic Acid Receptor, N Methyl Dextro Aspartic Acid Receptor 2D, N-Methyl-D-Aspartate, Neonatal Pneumonia, Neonatal Respiratory Distress Syndrome, Neuroimaging, Nuclear Magnetic Resonance Imaging, Phenobarbital, Premature Labor, Preschool, Preschool Child, Priority Journal, Protein Conformation, Proximal Interphalangeal Joint, Pyridoxine, Receptors, Respiratory Arrest, Sanger Sequencing, School Child, Single Photon Emission Computed Tomography, Sleep Disordered Breathing, Static Electricity, Stridor, Structure-Activity Relationship, Subglottic Stenosis, Superior Temporal Gyrus, Supramarginal Gyrus, Thiopental, Tonic Seizure, Valproic Acid, Wakefulness, Wechsler Intelligence Scale for Children, Whole Exome Sequencing},
pubstate = {published},
tppubtype = {article}
}

@article{Pandi-Perumal2007995,
title = {Role of the melatonin system in the control of sleep: Therapeutic implications},
author = {S R Pandi-Perumal and V Srinivasan and D W Spence and D P Cardinali},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-36248949004&doi=10.2165%2f00023210-200721120-00004&partnerID=40&md5=489ee976fa444beb95b26cdb77b722c2},
doi = {10.2165/00023210-200721120-00004},
issn = {11727047},
year = {2007},
date = {2007-01-01},
journal = {CNS Drugs},
volume = {21},
number = {12},
pages = {995-1018},
abstract = {The circadian rhythm of pineal melatonin secretion, which is controlled by the suprachiasmatic nucleus (SCN), is reflective of mechanisms that are involved in the control of the sleep/wake cycle. Melatonin can influence sleep-promoting and sleep/wake rhythm-regulating actions through the specific activation of MT1 (melatonin 1a) and MT2 (melatonin 1b) receptors, the two major melatonin receptor subtypes found in mammals. Both receptors are highly concentrated in the SCN. In diurnal animals, exogenous melatonin induces sleep over a wide range of doses. In healthy humans, melatonin also induces sleep, although its maximum hypnotic effectiveness, as shown by studies of the timing of dose administration, is influenced by the circadian phase. In both young and elderly individuals with primary insomnia, nocturnal plasma melatonin levels tend to be lower than those in healthy controls. There are data indicating that, in affected individuals, melatonin therapy may be beneficial for ameliorating insomnia symptoms. Melatonin has been successfully used to treat insomnia in children with attention-deficit hyperactivity disorder or autism, as well as in other neurodevelopmental disorders in which sleep disturbance is commonly reported. In circadian rhythm sleep disorders, such as delayed sleep-phase syndrome, melatonin can significantly advance the phase of the sleep/wake rhythm. Similarly, among shift workers or individuals experiencing jet lag, melatonin is beneficial for promoting adjustment to work schedules and improving sleep quality. The hypnotic and rhythm-regulating properties of melatonin and its agonists (ramelteon, agomelatine) make them an important addition to the armamentarium of drugs for treating primary and secondary insomnia and circadian rhythm sleep disorders. © 2007 Adis Data Information BV. All rights reserved.},
note = {cited By 90},
keywords = {Absence of Side Effects, Acetylserotonin Methyltransferase, Advanced Sleep Phase Syndrome, Agomelatine, Alpha Tocopherol, Alzheimer Disease, Animals, Ascorbic Acid, Beta Adrenergic Receptor Blocking Agent, Biosynthesis, Circadian Rhythm, Circadian Rhythm Sleep Disorder, Clinical Trial, Confusion, Delayed Sleep Phase Syndrome, Drowsiness, Drug Dose Comparison, Drug Efficacy, Drug Half Life, Drug Mechanism, Fatigue, Fluvoxamine, Headache, Hormone Metabolism, Human, Hypnosis, Hypothalamus, Insomnia, Jet Lag, Macaca, Melatonin, Melatonin Receptor, Muscle Cramp, Nausea, Non-24-Hour Sleep-Wake Syndrome, Nonhuman, Noradrenalin, Pineal Body, Priority Journal, Protein Expression, Ramelteon, Rat Strain, Receptor Density, Receptors, REM Sleep, Retina Ganglion Cell, Review, Serotonin, Shift Worker, Sleep, Sleep Disorder, Sleep Waking Cycle, Smith Magenis Syndrome, Suprachiasmatic Nucleus, Sustained Drug Release, Vomiting},
pubstate = {published},
tppubtype = {article}
}