@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{Wo201735,
title = {The impact of epilepsy on academic achievement in children with normal intelligence and without major comorbidities: A systematic review},
author = {S W Wo and L C Ong and W Y Low and P S M Lai},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85025636897&doi=10.1016%2fj.eplepsyres.2017.07.009&partnerID=40&md5=f34a0aada2cc5dc6e4d6beab18ac779c},
doi = {10.1016/j.eplepsyres.2017.07.009},
issn = {09201211},
year = {2017},
date = {2017-01-01},
journal = {Epilepsy Research},
volume = {136},
pages = {35-45},
publisher = {Elsevier B.V.},
abstract = {Purpose To systematically examine published literature which assessed the prevalence of academic difficulties in children with epilepsy (CWE) of normal intelligence, and its associating factors. Methods A search was conducted on five databases for articles published in English from 1980 till March 2015. Included were studies who recruited children (aged 5–18 years), with a diagnosis or newly/recurrent epilepsy, an intelligent quotient (IQ) of ≥70 or attending regular school, with or without a control group, which measured academic achievement using a standardised objective measure, and published in English. Excluded were children with learning difficulties, intellectual disabilities (IQ < 70) and other comorbidities such as attention deficits hyperactive disorder or autism. Two pairs of reviewers extracted the data, and met to resolve any differences from the data extraction process. Results Twenty studies were included. The majority of the studies assessed “low achievement” whist only two studies used the IQ-achievement discrepancy definition of “underachievement”. Fourteen studies (70%) reported that CWE had significantly lower academic achievement scores compared to healthy controls, children with asthma or reported norms. The remaining six studies (30%) did not report any differences. CWE had stable academic achievement scores over time (2–4 years), even among those whose seizure frequency improved. Higher parental education and children with higher IQ, and had better attention or had a positive attitude towards epilepsy, were associated with higher academic achievement score. Older children were found to have lower academic achievement score. Conclusions In CWE of normal intelligence, the majority of published literature found that academic achievement was lower than controls or reported norms. The high percentages of low achievement in CWE, especially in the older age group, and the stability of scores even as seizure frequency improved, highlights the need for early screening of learning problems, and continued surveillance. © 2017 Elsevier B.V.},
note = {cited By 8},
keywords = {Academic Achievement, Academic Success, Achievement, Attitude to Health, Autism, Benign Childhood Epilepsy, Children, Children with Epilepsy, Cohort Analysis, Comorbidity, Cross-Sectional Study, English (Language), Epilepsy, Human, Intellectual Impairment, Intelligence, Intelligence Quotient, Learning Disorder, Observational Study, Parenting Education, Priority Journal, Psychology, Recurrent Disease, Recurrent Epilepsy, Review, Scoring System, Systematic Review, Underachievement},
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}
}

@article{Sheppard2010504,
title = {Brief report: Driving hazard perception in autism},
author = {E Sheppard and D Ropar and G Underwood and E Van Loon},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-77954458984&doi=10.1007%2fs10803-009-0890-5&partnerID=40&md5=f0036a737ebb461359baf1bd8b388b23},
doi = {10.1007/s10803-009-0890-5},
issn = {01623257},
year = {2010},
date = {2010-01-01},
journal = {Journal of Autism and Developmental Disorders},
volume = {40},
number = {4},
pages = {504-508},
abstract = {This study investigated whether individuals with ASD (autistic spectrum disorders) are able to identify driving hazards, given their difficulties processing social information, Klin et al. (Archives of General Psychiatry 59: 809-816, 2002). Twenty-three adult males with ASD and 21 comparison participants viewed 10 video clips containing driving hazards. In half of the clips the source of the hazard was a visible person (social); in the other half the source was a car (non-social). Participants with ASD identified fewer social hazards than the comparison participants (U = 163.00},
note = {cited By 42},
keywords = {Adolescent, Adult, Article, Association, Autism, Autism Spectrum Disorders, Automobile Driving, Car Driving, Case-Control Studies, Clinical Article, Controlled Study, Hazard Assessment, Human, Information Processing, Intelligence Quotient, Male, Mental Health, Motor Dysfunction, Neuropsychological Tests, Perception, Photic Stimulation, Priority Journal, Reaction Time, Social Perception, Traffic Accident, Traffic Safety, Visual Impairment, Visual Perception, Visual Stimulation, Young Adult},
pubstate = {published},
tppubtype = {article}
}