List of Publications
There are numbers of autism related research can be found in Malaysia that generally focus on the ASD, learning disorder, communication aids, therapy and many more. The list of publications is provided below:
- Click this to search using keyword determined by the user.
- It will lead to a new web page with a text search box.
- Type your keyword in the search box
- Click on Keyword to search for any publication. Bigger words indicate the most used tags and smaller words indicate the least used.
- Click on dropdown buttons to choose any years, types of publications or authors of your choice.
- Click on underlined words in the publication detail to view more information.
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 Journal Article Clinical Genetics, 94 (6), pp. 538-547, 2018, ISSN: 00099163, (cited By 4). Abstract | Links | BibTeX | Tags: 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 @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} } 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 |
Masiran, R Stimming behaviour in a 4-year-old girl with autism spectrum disorder Journal Article BMJ Case Reports, 2018 , 2018, ISSN: 1757790X, (cited By 0). Links | BibTeX | Tags: Autism, Autism Spectrum Disorders, Biscuit, Biting Hard Object, Case Report, Chew Toy, Child Safety, Children, Clinical Article, Female, Food, Food Texture, Hot Food, Human, Language Disability, Note, Preschool, Preschool Child, Priority Journal, Psychology, Self Stimulation, Spicy Food, Stereotyped Behaviour, Stereotypy, Stimming Behaviour, Teething Biscuit, Vegetable @article{Masiran2018, title = {Stimming behaviour in a 4-year-old girl with autism spectrum disorder}, author = {R Masiran}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85042604824&doi=10.1136%2fbcr-2017-223671&partnerID=40&md5=c7b6514a4758257be1360250bf120de3}, doi = {10.1136/bcr-2017-223671}, issn = {1757790X}, year = {2018}, date = {2018-01-01}, journal = {BMJ Case Reports}, volume = {2018}, publisher = {BMJ Publishing Group}, note = {cited By 0}, keywords = {Autism, Autism Spectrum Disorders, Biscuit, Biting Hard Object, Case Report, Chew Toy, Child Safety, Children, Clinical Article, Female, Food, Food Texture, Hot Food, Human, Language Disability, Note, Preschool, Preschool Child, Priority Journal, Psychology, Self Stimulation, Spicy Food, Stereotyped Behaviour, Stereotypy, Stimming Behaviour, Teething Biscuit, Vegetable}, pubstate = {published}, tppubtype = {article} } |
Masiran, R Autism and trichotillomania in an adolescent boy Journal Article BMJ Case Reports, 2018 , 2018, ISSN: 1757790X, (cited By 0). Abstract | Links | BibTeX | Tags: Adolescent, Alopecia, Anxiety, Article, Attention Deficit Disorder, Attention Deficit Hyperactivity Disorder, Autism, Autism Spectrum Disorders, Behaviour Disorder, Body Mass, Case Report, Central Nervous System Stimulants, Child Behaviour Checklist, Clinical Article, Comorbidity, Complication, Diagnosis, Differential, Differential Diagnosis, Drug Dose Titration, Drug Tolerance, DSM-5, Echolalia, Fluvoxamine, Follow Up, Human, Hyperactivity, Intellectual Impairment, Male, Methylphenidate, Obesity, Occupational Therapy, Perceptual Reasoning Index, Priority Journal, Processing Speed Index, Psychiatric Status Rating Scales, Psychological Rating Scale, Rating Scale, Restlessness, Reward, Serotonin Uptake Inhibitor, Serotonin Uptake Inhibitors, Special Education, Speech Delay, Speech Disorder, Speech Therapy, Trichotillomania, Verbal Comprehension Index, Wechsler Intelligence Scale, Working Memory Index @article{Masiran2018b, title = {Autism and trichotillomania in an adolescent boy}, author = {R Masiran}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85053164449&doi=10.1136%2fbcr-2018-226270&partnerID=40&md5=7eed3f6af717df527dce73838feab571}, doi = {10.1136/bcr-2018-226270}, issn = {1757790X}, year = {2018}, date = {2018-01-01}, journal = {BMJ Case Reports}, volume = {2018}, publisher = {BMJ Publishing Group}, abstract = {An adolescent with autism spectrum disorder and improperly treated attention deficit hyperactivity disorder presented with recurrent hair pulling. Treatment with selective serotonin reuptake inhibitor and stimulant improved these conditions. © © BMJ Publishing Group Limited 2018.}, note = {cited By 0}, keywords = {Adolescent, Alopecia, Anxiety, Article, Attention Deficit Disorder, Attention Deficit Hyperactivity Disorder, Autism, Autism Spectrum Disorders, Behaviour Disorder, Body Mass, Case Report, Central Nervous System Stimulants, Child Behaviour Checklist, Clinical Article, Comorbidity, Complication, Diagnosis, Differential, Differential Diagnosis, Drug Dose Titration, Drug Tolerance, DSM-5, Echolalia, Fluvoxamine, Follow Up, Human, Hyperactivity, Intellectual Impairment, Male, Methylphenidate, Obesity, Occupational Therapy, Perceptual Reasoning Index, Priority Journal, Processing Speed Index, Psychiatric Status Rating Scales, Psychological Rating Scale, Rating Scale, Restlessness, Reward, Serotonin Uptake Inhibitor, Serotonin Uptake Inhibitors, Special Education, Speech Delay, Speech Disorder, Speech Therapy, Trichotillomania, Verbal Comprehension Index, Wechsler Intelligence Scale, Working Memory Index}, pubstate = {published}, tppubtype = {article} } An adolescent with autism spectrum disorder and improperly treated attention deficit hyperactivity disorder presented with recurrent hair pulling. Treatment with selective serotonin reuptake inhibitor and stimulant improved these conditions. © © BMJ Publishing Group Limited 2018. |
2017 |
Shuib, S; Saaid, N N; Zakaria, Z; Ismail, J; Latiff, Abdul Z Duplication 17p11.2 (Potocki-Lupski syndrome) in a child with developmental delay Journal Article Malaysian Journal of Pathology, 39 (1), pp. 77-81, 2017, ISSN: 01268635, (cited By 0). Abstract | Links | BibTeX | Tags: Abnormalities, Agarose, Article, Autism, Autism Spectrum Disorders, Blood Culture, Case Report, Children, Chromosome 17, Chromosome Analysis, Chromosome Disorder, Chromosome Duplication, Chromosomes, Clinical Article, Comparative Genomic Hybridization, Developmental Delay, Electrophoresis, Female, Fluorescence, Fluorescence in Situ Hybridization, Gene, Gene Identification, Genetics, Genomic DNA, Human, In Situ Hybridization, Lymphocyte Culture, Microarray Analysis, Multiple, Multiple Malformation Syndrome, Pair 17, Phenotype, Potocki Lupski Syndrome, Preschool, Preschool Child, Procedures, RAI1 Gene, Ultraviolet Spectrophotometry @article{Shuib201777, title = {Duplication 17p11.2 (Potocki-Lupski syndrome) in a child with developmental delay}, author = {S Shuib and N N Saaid and Z Zakaria and J Ismail and Z Abdul Latiff}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85037028880&partnerID=40&md5=624b87d1e9ebac2d1bf66b4d30c0f6e9}, issn = {01268635}, year = {2017}, date = {2017-01-01}, journal = {Malaysian Journal of Pathology}, volume = {39}, number = {1}, pages = {77-81}, publisher = {Malaysian Society of Pathologists}, abstract = {Potocki-Lupski syndrome (PTLS), also known as duplication 17p11.2 syndrome, trisomy 17p11.2 or dup(17)(p11.2p11.2) syndrome, is a developmental disorder and a rare contiguous gene syndrome affecting 1 in 20,000 live births. Among the key features of such patients are autism spectrum disorder, learning disabilities, developmental delay, attention-deficit disorder, infantile hypotonia and cardiovascular abnormalities. Previous studies using microarray identified variations in the size and extent of the duplicated region of chromosome 17p11.2. However, there are a few genes which are considered as candidates for PTLS which include RAI1, SREBF1, DRG2, LLGL1, SHMT1 and ZFP179. In this report, we investigated a case of a 3-year-old girl who has developmental delay. Her chromosome analysis showed a normal karyotype (46,XX). Analysis using array CGH (4X44 K, Agilent USA) identified an ~4.2 Mb de novo duplication in chromosome 17p11.2. The result was confirmed by fluorescence in situ hybridization (FISH) using probes in the critical PTLS region. This report demonstrates the importance of microarray and FISH in the diagnosis of PTLS. © 2017, Malaysian Society of Pathologists. All rights reserved.}, note = {cited By 0}, keywords = {Abnormalities, Agarose, Article, Autism, Autism Spectrum Disorders, Blood Culture, Case Report, Children, Chromosome 17, Chromosome Analysis, Chromosome Disorder, Chromosome Duplication, Chromosomes, Clinical Article, Comparative Genomic Hybridization, Developmental Delay, Electrophoresis, Female, Fluorescence, Fluorescence in Situ Hybridization, Gene, Gene Identification, Genetics, Genomic DNA, Human, In Situ Hybridization, Lymphocyte Culture, Microarray Analysis, Multiple, Multiple Malformation Syndrome, Pair 17, Phenotype, Potocki Lupski Syndrome, Preschool, Preschool Child, Procedures, RAI1 Gene, Ultraviolet Spectrophotometry}, pubstate = {published}, tppubtype = {article} } Potocki-Lupski syndrome (PTLS), also known as duplication 17p11.2 syndrome, trisomy 17p11.2 or dup(17)(p11.2p11.2) syndrome, is a developmental disorder and a rare contiguous gene syndrome affecting 1 in 20,000 live births. Among the key features of such patients are autism spectrum disorder, learning disabilities, developmental delay, attention-deficit disorder, infantile hypotonia and cardiovascular abnormalities. Previous studies using microarray identified variations in the size and extent of the duplicated region of chromosome 17p11.2. However, there are a few genes which are considered as candidates for PTLS which include RAI1, SREBF1, DRG2, LLGL1, SHMT1 and ZFP179. In this report, we investigated a case of a 3-year-old girl who has developmental delay. Her chromosome analysis showed a normal karyotype (46,XX). Analysis using array CGH (4X44 K, Agilent USA) identified an ~4.2 Mb de novo duplication in chromosome 17p11.2. The result was confirmed by fluorescence in situ hybridization (FISH) using probes in the critical PTLS region. This report demonstrates the importance of microarray and FISH in the diagnosis of PTLS. © 2017, Malaysian Society of Pathologists. All rights reserved. |
2014 |
Chen, B C; Rawi, Mohd R; Meinsma, R; Meijer, J; Hennekam, R C M; Kuilenburg, Van A B P Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings Journal Article Molecular Syndromology, 5 (6), pp. 299-303, 2014, ISSN: 16618769, (cited By 4). Abstract | Links | BibTeX | Tags: Alanine, Article, Asymptomatic Disease, Autism, Autosomal Recessive Disorder, Case Report, Cerebellum Atrophy, Children, Creatinine, Dihydropyrimidine Dehydrogenase, Dihydropyrimidine Dehydrogenase Deficiency, Disease Severity, DPYD Gene, Eye Malformation, Female, Gene, Gene Mutation, Homozygosity, Human, Intellectual Impairment, Malaysian, Male, Microcephaly, Muscle Hypotonia, Nuclear Magnetic Resonance Imaging, Preschool Child, Pyrimidine, Pyrimidine Metabolism, School Child, Seizure, Sequence Analysis, Sibling, Threonine, Thymine, Uracil @article{Chen2014299, title = {Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings}, author = {B C Chen and R Mohd Rawi and R Meinsma and J Meijer and R C M Hennekam and A B P Van Kuilenburg}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84919783242&doi=10.1159%2f000366074&partnerID=40&md5=1ebfb9aedb7cb64e3423811b41b6aa7c}, doi = {10.1159/000366074}, issn = {16618769}, year = {2014}, date = {2014-01-01}, journal = {Molecular Syndromology}, volume = {5}, number = {6}, pages = {299-303}, publisher = {S. Karger AG}, abstract = {Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine metabolism. Deficiency of this enzyme leads to an accumulation of thymine and uracil and a deficiency of metabolites distal to the catabolic enzyme. The disorder presents with a wide clinical spectrum, ranging from asymptomatic to severe neurological manifestations, including intellectual disability, seizures, microcephaly, autistic behavior, and eye abnormalities. Here, we report on an 11-year-old Malaysian girl and her 6-year-old brother with DPD deficiency who presented with intellectual disability, microcephaly, and hypotonia. Brain MRI scans showed generalized cerebral and cerebellar atrophy and callosal body dysgenesis in the boy. Urine analysis showed strongly elevated levels of uracil in the girl and boy (571 and 578 mmol/mol creatinine, respectively) and thymine (425 and 427 mmol/mol creatinine, respectively). Sequence analysis of the DPYD gene showed that both siblings were homozygous for the mutation c.1651G>A (pAla551Thr). © 2014 S. Karger AG, Basel.}, note = {cited By 4}, keywords = {Alanine, Article, Asymptomatic Disease, Autism, Autosomal Recessive Disorder, Case Report, Cerebellum Atrophy, Children, Creatinine, Dihydropyrimidine Dehydrogenase, Dihydropyrimidine Dehydrogenase Deficiency, Disease Severity, DPYD Gene, Eye Malformation, Female, Gene, Gene Mutation, Homozygosity, Human, Intellectual Impairment, Malaysian, Male, Microcephaly, Muscle Hypotonia, Nuclear Magnetic Resonance Imaging, Preschool Child, Pyrimidine, Pyrimidine Metabolism, School Child, Seizure, Sequence Analysis, Sibling, Threonine, Thymine, Uracil}, pubstate = {published}, tppubtype = {article} } Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine metabolism. Deficiency of this enzyme leads to an accumulation of thymine and uracil and a deficiency of metabolites distal to the catabolic enzyme. The disorder presents with a wide clinical spectrum, ranging from asymptomatic to severe neurological manifestations, including intellectual disability, seizures, microcephaly, autistic behavior, and eye abnormalities. Here, we report on an 11-year-old Malaysian girl and her 6-year-old brother with DPD deficiency who presented with intellectual disability, microcephaly, and hypotonia. Brain MRI scans showed generalized cerebral and cerebellar atrophy and callosal body dysgenesis in the boy. Urine analysis showed strongly elevated levels of uracil in the girl and boy (571 and 578 mmol/mol creatinine, respectively) and thymine (425 and 427 mmol/mol creatinine, respectively). Sequence analysis of the DPYD gene showed that both siblings were homozygous for the mutation c.1651G>A (pAla551Thr). © 2014 S. Karger AG, Basel. |
2012 |
Tan, E H; Yusoff, A A M; Abdullah, J M; Razak, S A Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient Journal Article Journal of Pediatric Neurosciences, 7 (2), pp. 123-125, 2012, ISSN: 18171745, (cited By 3). Abstract | Links | BibTeX | Tags: Adolescent, Anxiety Disorder, Article, Autism, Carbamazepine, Case Report, Computer Assisted Tomography, Electroencephalogram, Electroencephalography, Febrile Convulsion, Gene, Generalized Epilepsy, Generalized Epilepsy with Febrile Seizure Plus, Human, Karyotype, Malaysia, Male, Medical History, Mental Deficiency, Missense Mutation, Nuclear Magnetic Resonance Imaging, Phenotype, SCN1A Gene, Tonic Clonic Seizure, Topiramate, Valproic Acid @article{Tan2012123, title = {Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient}, author = {E H Tan and A A M Yusoff and J M Abdullah and S A Razak}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84870194979&doi=10.4103%2f1817-1745.102575&partnerID=40&md5=b73f0bdb583e84404e0fff232faf30cb}, doi = {10.4103/1817-1745.102575}, issn = {18171745}, year = {2012}, date = {2012-01-01}, journal = {Journal of Pediatric Neurosciences}, volume = {7}, number = {2}, pages = {123-125}, abstract = {In this report, we describe a 15-year-old Malaysian male patient with a de novo SCN1A mutation who experienced prolonged febrile seizures after his first seizure at 6 months of age. This boy had generalized tonic clonic seizure (GTCS) which occurred with and without fever. Sequencing analysis of voltage-gated sodium channel a1-subunit gene, SCN1A, confirmed a homozygous A to G change at nucleotide 5197 (c.5197A > G) in exon 26 resulting in amino acid substitution of asparagines to aspartate at codon 1733 of sodium channel. The mutation identified in this patient is located in the pore-forming loop of SCN1A and this case report suggests missense mutation in pore-forming loop causes generalized epilepsy with febrile seizure plus (GEFS+) with clinically more severe neurologic phenotype including intellectual disabilities (mental retardation and autism features) and neuropsychiatric disease (anxiety disorder).}, note = {cited By 3}, keywords = {Adolescent, Anxiety Disorder, Article, Autism, Carbamazepine, Case Report, Computer Assisted Tomography, Electroencephalogram, Electroencephalography, Febrile Convulsion, Gene, Generalized Epilepsy, Generalized Epilepsy with Febrile Seizure Plus, Human, Karyotype, Malaysia, Male, Medical History, Mental Deficiency, Missense Mutation, Nuclear Magnetic Resonance Imaging, Phenotype, SCN1A Gene, Tonic Clonic Seizure, Topiramate, Valproic Acid}, pubstate = {published}, tppubtype = {article} } In this report, we describe a 15-year-old Malaysian male patient with a de novo SCN1A mutation who experienced prolonged febrile seizures after his first seizure at 6 months of age. This boy had generalized tonic clonic seizure (GTCS) which occurred with and without fever. Sequencing analysis of voltage-gated sodium channel a1-subunit gene, SCN1A, confirmed a homozygous A to G change at nucleotide 5197 (c.5197A > G) in exon 26 resulting in amino acid substitution of asparagines to aspartate at codon 1733 of sodium channel. The mutation identified in this patient is located in the pore-forming loop of SCN1A and this case report suggests missense mutation in pore-forming loop causes generalized epilepsy with febrile seizure plus (GEFS+) with clinically more severe neurologic phenotype including intellectual disabilities (mental retardation and autism features) and neuropsychiatric disease (anxiety disorder). |
1995 |
Kasmini, K; Zasmani, S Asperger's syndrome: a report of two cases from Malaysia. Journal Article Singapore medical journal, 36 (6), pp. 641-643, 1995, ISSN: 00375675, (cited By 2). Abstract | Links | BibTeX | Tags: Article, Autism, Autism Spectrum Disorders, Case Report, Child Development Disorders, Children, Classification (of information), Human, Language Development Disorders, Language Disability, Malaysia, Male, Pervasive, Psychiatric Status Rating Scales, Psychological Aspect, Psychological Rating Scale, Social Behaviour, Stereotyped Behaviour, Stereotypy, Syndrome @article{Kasmini1995641, title = {Asperger's syndrome: a report of two cases from Malaysia.}, author = {K Kasmini and S Zasmani}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-0029445569&partnerID=40&md5=6280382e5c679f84eea178a916b2e19f}, issn = {00375675}, year = {1995}, date = {1995-01-01}, journal = {Singapore medical journal}, volume = {36}, number = {6}, pages = {641-643}, abstract = {Asperger's Syndrome is a distinct variant of autism, with a prevalence rate of 10 to 26 per 10,000 of normal intelligence, and 0.4 per 10,000 in those with mild mental retardation. The syndrome now has its own clinical entity and diagnostic criteria. It is being officially listed in the ICD-10 under pervasive developmental disorder. Two such cases are described in this article. Case One lacked the ability to relate to others, was excessively preoccupied with the late actor P. Ramlee and demonstrated a peculiar behaviour of holding on to toothbrushes in his early childhood. Cognitively, he was unable to synthesise words into meaningful sentences. Similarly, Case Two was unable to relate well to others and was preoccupied with the planets and its constellations. Though he appeared intelligent with an IQ score of 101, he was unable to follow instructions at school. Both children had motor clumsiness and fulfilled the criteria for the diagnosis of Asperger's Syndrome.}, note = {cited By 2}, keywords = {Article, Autism, Autism Spectrum Disorders, Case Report, Child Development Disorders, Children, Classification (of information), Human, Language Development Disorders, Language Disability, Malaysia, Male, Pervasive, Psychiatric Status Rating Scales, Psychological Aspect, Psychological Rating Scale, Social Behaviour, Stereotyped Behaviour, Stereotypy, Syndrome}, pubstate = {published}, tppubtype = {article} } Asperger's Syndrome is a distinct variant of autism, with a prevalence rate of 10 to 26 per 10,000 of normal intelligence, and 0.4 per 10,000 in those with mild mental retardation. The syndrome now has its own clinical entity and diagnostic criteria. It is being officially listed in the ICD-10 under pervasive developmental disorder. Two such cases are described in this article. Case One lacked the ability to relate to others, was excessively preoccupied with the late actor P. Ramlee and demonstrated a peculiar behaviour of holding on to toothbrushes in his early childhood. Cognitively, he was unable to synthesise words into meaningful sentences. Similarly, Case Two was unable to relate well to others and was preoccupied with the planets and its constellations. Though he appeared intelligent with an IQ score of 101, he was unable to follow instructions at school. Both children had motor clumsiness and fulfilled the criteria for the diagnosis of Asperger's Syndrome. |