@artikel{Ramachandram2019372,
tajuk = {Clinical characteristics and demographic profile of children with autism spectrum disorder (Asd) at child development clinic (cdc), penang hospital, malaysia},
pengarang = {S Ramachandram},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85073688991&rakan kongsi = 40&md5=3ed147d56181ccd44321c47629a4aa54},
terbitan = {03005283},
tahun = {2019},
tarikh = {2019-01-01},
jurnal = {Medical Journal of Malaysia},
isi padu = {74},
nombor = {5},
halaman = {372-376},
penerbit = {Malaysian Medical Association},
abstrak = {Objektif: To explore socio-demographics and clinical characteristics of children with Autism Spectrum Disorder (ASD) at Child Development Clinic (CDC), Penang Hospital. Study design: A record review study of 331 children with ASD attending CDC, Penang Hospital from September 2013 to April 2017. Keputusan: Daripada 331 children with ASD, 82.5% were males, 17.5% perempuan, with male to female ratio of 4.7:1. Mean age at consultation was 5 years and 6 bulan (SD 31.68 bulan) with age range from 19 months to 18 years and 4 bulan. 85.8% were term infants with normal birth weight. History of speech regression was noted in 14.8%, epilepsy and genetic disorders in 9.4% dan 5.7% masing-masing. Sleep problems was reported in 29.3%, dietary issues 22.1%, challenging behaviour 24.2% and ADHD 14.2%. Mean age of the father and mother at birth was 33.6 dan 31.6 years respectively. Kesimpulannya: Dalam kajian ini, we report a higher male to female ratio and mean age at referral with some similar rates of neurodevelopmental and medical comorbidities and relatively younger parental age with higher parental education levels. © 2019, Malaysian Medical Association. Hak cipta terpelihara.},
nota = {dipetik oleh 0},
kata kunci = {Remaja, Artikel, Asthma, Autisme, Birth Weight, Pembangunan kanak-kanak, Anak-anak, Chinese, Conception, Demografi, Diet Restriction, DSM-5, Eczema, Pendidikan, Educational Status, Epilepsi, Perempuan, Genetic Disorder, Heart Atrium Septum Defect, Heart Ventricle Septum Defect, Manusia, Orang India, Kajian Klinikal Utama, Malay, Lelaki, Medical Record Review, Pulau Pinang, Prematurity, Gangguan Pertuturan, Upper Respiratory Tract Congestion, Wakefulness},
pubstate = {diterbitkan},
tppubtype = {artikel}
}

@artikel{Tsuchida2018538,
tajuk = {GRIN2D variants in three cases of developmental and epileptic encephalopathy},
pengarang = {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&rakan kongsi = 40&md5=f0d32670db57261820bc244943cffd62},
doi = {10.1111/cge.13454},
terbitan = {00099163},
tahun = {2018},
tarikh = {2018-01-01},
jurnal = {Clinical Genetics},
isi padu = {94},
nombor = {6},
halaman = {538-547},
penerbit = {Blackwell Publishing Ltd},
abstrak = {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. Baru-baru ini, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. Dalam kajian ini, 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},
nota = {dipetik oleh 4},
kata kunci = {Remaja, Allele, Amino Acid Sequence, Amino Acid Substitution, Amino Terminal Sequence, Anemia, Antibiotic Agent, Antibiotic Therapy, Artikel, Atonic Seizure, Gangguan Defisit Perhatian, Autisme, Binding Affinity, Otak, Brain Atrophy, Carbamazepine, Laporan kes, Channel Gating, Kimia, Anak-anak, Artikel Klinikal, Clinical Feature, Clobazam, Clonazepam, Conformational Transition, Continuous Infusion, Contracture, Crystal Structure, Cysteine Ethyl Ester Tc 99m, Kelewatan Perkembangan, Gangguan Perkembangan, Elektroencephalogram, Elektroensefalografi, Epilepsi, Epileptic Discharge, Ethosuximide, Eye Tracking, Febrile Convulsion, Perempuan, Frontal Lobe Epilepsy, Gen, Gene Frequency, Genetic Variation, Genetik, Genotype, GRIN2D Protein, Heterozygosity, Home Oxygen Therapy, Manusia, Sel Manusia, Hydrogen Bond, Kemerosotan Intelektual, Intelligence Quotient, Intractable Epilepsy, Ketamine, Lacosamide, Lamotrigine, Lennox Gastaut Syndrome, Levetiracetam, Magnetoencephalography, Lelaki, 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, Prasekolah, Kanak-kanak Prasekolah, Jurnal Keutamaan, Protein Conformation, Proximal Interphalangeal Joint, Pyridoxine, Receptors, Respiratory Arrest, Sanger Sequencing, Budak sekolah, 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 = {diterbitkan},
tppubtype = {artikel}
}