Senarai Penerbitan
Terdapat sebilangan besar penyelidikan berkaitan autisme yang boleh dijumpai di Malaysia yang umumnya menumpukan pada ASD, gangguan pembelajaran, alat bantu komunikasi, terapi dan banyak lagi. Senarai penerbitan disediakan di bawah:
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2018 |
Tsuchida, N; Hamada, K; Shiina, M; Kato, M; Kobayashi, Y; Tohyama, J; Kimura, K; Hoshino, K; Ganesan, V; Teik, K W; Nakashima, M; Mitsuhashi, S; Mizuguchi, T; Takata, A; Miyake, N; Saitsu, H; Ogata, K; Miyatake, S; Matsumoto, N GRIN2D variants in three cases of developmental and epileptic encephalopathy Artikel Jurnal Clinical Genetics, 94 (6), hlm. 538-547, 2018, ISSN: 00099163, (dipetik oleh 4). Abstrak | Pautan | BibTeX | Tag: 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 @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} } 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 |
2012 |
Penjagaan, P R P; Pirapaharan, K; bazar, S A; Ismail, R; Liyanage, D L D A; Senanayake, S S H M U L; Penjagaan, S R H Autisme, EEG and brain electromagnetics research Persidangan 2012, ISBN: 9781467316668, (dipetik oleh 11). Abstrak | Pautan | BibTeX | Tag: Kejuruteraan Bioperubatan, Otak, Brain Regions, Ketepatan Pengelasan, Penyakit, EEG Signals, Electromagnetic Signals, Electromagnetics, Electromagnetism, Domain Kekerapan, International Group, Multilayer Perception Neural Networks, Neuroimaging, Analisis Komponen Utama @ persidangan{Hoole2012541, tajuk = {Autisme, EEG and brain electromagnetics research}, pengarang = {P R P Hoole and K Pirapaharan and S A Basar and R Ismail and D L D A Liyanage and S S H M U L Senanayake and S R H Hoole}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84876771339&doi=10.1109%2fIECBES.2012.6498036&rakan kongsi = 40&md5=9f9390b30b859a90936c66699c1a5115}, doi = {10.1109/IECBES.2012.6498036}, isbn = {9781467316668}, tahun = {2012}, tarikh = {2012-01-01}, jurnal = {2012 Persidangan IEEE-EMBS mengenai Kejuruteraan dan Sains Bioperubatan, IECBES 2012}, halaman = {541-543}, abstrak = {There has been a significant increase in the incidence of autism. We report the work on autism by our international group, on the growing attention paid to EEG based diagnosis and the interest in tracing EEG changes to brain electromagnetic signals (BEMS), seeking the cause of autism and the brain regions of its origin. The time- and frequency domain and principal component analysis (PCA) of these EEG signals with a Multilayer Perception Neural Network (MLP) identifies an autistic subject and helps improve classification accuracy. We show differences between a working brain and a relaxed brain, especially in the Alpha waves used for diagnosis. © 2012 IEEE.}, nota = {dipetik oleh 11}, kata kunci = {Kejuruteraan Bioperubatan, Otak, Brain Regions, Ketepatan Pengelasan, Penyakit, EEG Signals, Electromagnetic Signals, Electromagnetics, Electromagnetism, Domain Kekerapan, International Group, Multilayer Perception Neural Networks, Neuroimaging, Analisis Komponen Utama}, pubstate = {diterbitkan}, tppubtype = {persidangan} } There has been a significant increase in the incidence of autism. We report the work on autism by our international group, on the growing attention paid to EEG based diagnosis and the interest in tracing EEG changes to brain electromagnetic signals (BEMS), seeking the cause of autism and the brain regions of its origin. The time- and frequency domain and principal component analysis (PCA) of these EEG signals with a Multilayer Perception Neural Network (MLP) identifies an autistic subject and helps improve classification accuracy. We show differences between a working brain and a relaxed brain, especially in the Alpha waves used for diagnosis. © 2012 IEEE. |