@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{Cassidy2014112,
title = {Can adults with autism spectrum disorders infer what happened to someone from their emotional response?},
author = {S Cassidy and D Ropar and P Mitchell and P Chapman},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84894307909&doi=10.1002%2faur.1351&partnerID=40&md5=8c6736bc006e9eebde29427879d023c3},
doi = {10.1002/aur.1351},
issn = {19393792},
year = {2014},
date = {2014-01-01},
journal = {Autism Research},
volume = {7},
number = {1},
pages = {112-123},
publisher = {John Wiley and Sons Inc.},
abstract = {Can adults with autism spectrum disorders (ASD) infer what happened to someone from their emotional response? Millikan has argued that in everyday life, others' emotions are most commonly used to work out the antecedents of behavior, an ability termed retrodictive mindreading. As those with ASD show difficulties interpreting others' emotions, we predicted that these individuals would have difficulty with retrodictive mindreading. Sixteen adults with high-functioning autism or Asperger's syndrome and 19 typically developing adults viewed 21 video clips of people reacting to one of three gifts (chocolate, monopoly money, or a homemade novelty) and then inferred what gift the recipient received and the emotion expressed by that person. Participants' eye movements were recorded while they viewed the videos. Results showed that participants with ASD were only less accurate when inferring who received a chocolate or homemade gift. This difficulty was not due to lack of understanding what emotions were appropriate in response to each gift, as both groups gave consistent gift and emotion inferences significantly above chance (genuine positive for chocolate and feigned positive for homemade). Those with ASD did not look significantly less to the eyes of faces in the videos, and looking to the eyes did not correlate with accuracy on the task. These results suggest that those with ASD are less accurate when retrodicting events involving recognition of genuine and feigned positive emotions, and challenge claims that lack of attention to the eyes causes emotion recognition difficulties in ASD. Autism Res 2014, 7: 112-123. © 2013 International Society for Autism Research, Wiley Periodicals, Inc.},
note = {cited By 21},
keywords = {Accuracy, Adult, Aged, Article, Asperger Syndrome, Attention, Autism, Behaviour, Cacao, Child Development Disorders, Clinical Article, Concept Formation, Controlled Study, Deception, Discrimination (Psychology), Emotion, Eye Movement, Eye Tracking, Face Processing, Facial Expression, Female, Human, Interpersonal Relations, Male, Middle Aged, Money, Pervasive, Priority Journal, Recipient, Recognition, Reference Values, Retrodictive Mindreading, Spontaneous Emotion Recognition, Theory of Mind, Video Recording, Young Adult},
pubstate = {published},
tppubtype = {article}
}

@article{Pillai20142430,
title = {Using other minds as a window onto the world: Guessing what happened from clues in behaviour},
author = {D Pillai and E Sheppard and D Ropar and L Marsh and A Pearson and P Mitchell},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84912053354&doi=10.1007%2fs10803-014-2106-x&partnerID=40&md5=c3396f6f468e37e253c657f998993859},
doi = {10.1007/s10803-014-2106-x},
issn = {01623257},
year = {2014},
date = {2014-01-01},
journal = {Journal of Autism and Developmental Disorders},
volume = {44},
number = {10},
pages = {2430-2439},
publisher = {Springer New York LLC},
abstract = {It has been proposed that mentalising involves retrodicting as well as predicting behaviour, by inferring previous mental states of a target. This study investigated whether retrodiction is impaired in individuals with autism spectrum disorders (ASD). Participants watched videos of real people reacting to the researcher behaving in one of four possible ways. Their task was to decide which of these four ‘‘scenarios’’ each person responded to. Participants’ eye movements were recorded. Participants with ASD were poorer than comparison participants at identifying the scenario to which people in the videos were responding. There were no group differences in time spent looking at the eyes or mouth. The findings imply those with ASD are impaired in using mentalising skills for retrodiction. © Springer Science+Business Media New York 2014.},
note = {cited By 17},
keywords = {Adolescent, Adult, Article, Autism, Child Development Disorders, Children, Clinical Article, Cognition, Controlled Study, Eye Movement, Eye Tracking, Facial Expression, Gaze, Human, Intelligence Quotient, Male, Measurement Accuracy, Mouth, Pathophysiology, Pervasive, Physiology, Psychological Aspect, Psychology, Retrodiction, Task Performance, Theory of Mind, Verbal Communication, Video Recording, Videotape Recording, Young Adult},
pubstate = {published},
tppubtype = {article}
}

@article{Freeth2011364,
title = {Brief report: How adolescents with ASD process social information in complex scenes. Combining evidence from eye movements and verbal descriptions},
author = {M Freeth and D Ropar and P Mitchell and P Chapman and S Loher},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-79956006659&doi=10.1007%2fs10803-010-1053-4&partnerID=40&md5=35b5c8dd813f7eab2963b27081f11e78},
doi = {10.1007/s10803-010-1053-4},
issn = {01623257},
year = {2011},
date = {2011-01-01},
journal = {Journal of Autism and Developmental Disorders},
volume = {41},
number = {3},
pages = {364-371},
abstract = {We investigated attention, encoding and processing of social aspects of complex photographic scenes. Twenty-four high-functioning adolescents (aged 11-16) with ASD and 24 typically developing matched control participants viewed and then described a series of scenes, each containing a person. Analyses of eye movements and verbal descriptions provided converging evidence that both groups displayed general interest in the person in each scene but the salience of the person was reduced for the ASD participants. Nevertheless, the verbal descriptions revealed that participants with ASD frequently processed the observed person's emotion or mental state without prompting. They also often mentioned eye-gaze direction, and there was evidence from eye movements and verbal descriptions that gaze was followed accurately. The combination of evidence from eye movements and verbal descriptions provides a rich insight into the way stimuli are processed overall. The merits of using these methods within the same paradigm are discussed. © Springer Science+Business Media, LLC 2010.},
note = {cited By 21},
keywords = {Adolescent, Article, Association, Attention, Autism, Child Development Disorders, Children, Clinical Article, Controlled Study, Cues, Emotion, Eye Fixation, Eye Movement, Eye Tracking, Female, Gaze, Human, Intelligence Quotient, Male, Mental Function, Mental Health, Perception, Pervasive, Photic Stimulation, Photostimulation, Priority Journal, Psychological Aspect, School Child, Social Aspect, Social Perception, Stimulus Response, Verbal Communication, Vision, Visual Perception, Visual Stimulation},
pubstate = {published},
tppubtype = {article}
}