@article{Ramachandram2019372,
title = {Clinical characteristics and demographic profile of children with autism spectrum disorder (Asd) at child development clinic (cdc), penang hospital, malaysia},
author = {S Ramachandram},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85073688991&partnerID=40&md5=3ed147d56181ccd44321c47629a4aa54},
issn = {03005283},
year = {2019},
date = {2019-01-01},
journal = {Medical Journal of Malaysia},
volume = {74},
number = {5},
pages = {372-376},
publisher = {Malaysian Medical Association},
abstract = {Objective: 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. Results: Out of 331 children with ASD, 82.5% were males, 17.5% females, with male to female ratio of 4.7:1. Mean age at consultation was 5 years and 6 months (SD 31.68 months) with age range from 19 months to 18 years and 4 months. 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% and 5.7% respectively. 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 and 31.6 years respectively. Conclusion: In this study, 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. All rights reserved.},
note = {cited By 0},
keywords = {Adolescent, Article, Asthma, Autism, Birth Weight, Child Development, Children, Chinese, Conception, Demography, Diet Restriction, DSM-5, Eczema, Education, Educational Status, Epilepsy, Female, Genetic Disorder, Heart Atrium Septum Defect, Heart Ventricle Septum Defect, Human, Indian, Major Clinical Study, Malay, Male, Medical Record Review, Penang, Prematurity, Speech Disorder, Upper Respiratory Tract Congestion, Wakefulness},
pubstate = {published},
tppubtype = {article}
}

@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{Paudel2018145,
title = {Role of inflammation in epilepsy and neurobehavioral comorbidities: Implication for therapy},
author = {Y N Paudel and M F Shaikh and S Shah and Y Kumari and I Othman},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85053082063&doi=10.1016%2fj.ejphar.2018.08.020&partnerID=40&md5=27ff0199bae72f156425637a7ad02228},
doi = {10.1016/j.ejphar.2018.08.020},
issn = {00142999},
year = {2018},
date = {2018-01-01},
journal = {European Journal of Pharmacology},
volume = {837},
pages = {145-155},
publisher = {Elsevier B.V.},
abstract = {Epilepsy is a devastating condition affecting around 70 million people worldwide. Moreover, the quality of life of people with epilepsy (PWE) is worsened by a series of comorbidities. The neurobehavioral comorbidities discussed herein share a reciprocal and complex relationship with epilepsy, which ultimately complicates the treatment process in PWE. Understanding the mechanistic pathway by which these comorbidities are associated with epilepsy might be instrumental in developing therapeutic interventions. Inflammatory cytokine signaling in the brain regulates important brain functions including neurotransmitter metabolism, neuroendocrine function, synaptic plasticity, dopaminergic transmission, the kynurenine pathway, and affects neurogenesis as well as the neural circuitry of moods. In this review, we hypothesize that the complex relationship between epilepsy and its related comorbidities (cognitive impairment, depression, anxiety, autism, and schizophrenia) can be unraveled through the inflammatory mechanism that plays a prominent role in all these individual conditions. An ample amount of evidence is available reporting the role of inflammation in epilepsy and all individual comorbid condition but their complex relationship with epilepsy has not yet been explored through the prospective of inflammatory pathway. Our review suggests that epilepsy and its neurobehavioral comorbidities are associated with elevated levels of several key inflammatory markers. This review also sheds light on the mechanistic association between epilepsy and its neurobehavioral comorbidities. Moreover, we analyzed several anti-inflammatory therapies available for epilepsy and its neurobehavioral comorbidities. We suggest, these anti-inflammatory therapies might be a possible intervention and could be a promising strategy for preventing epileptogenesis and its related neurobehavioral comorbidities. © 2018 Elsevier B.V.},
note = {cited By 14},
keywords = {3 Dioxygenase, Acetylsalicylic Acid, Adalimumab, Anakinra, Animals, Anti-Inflammatory Agents, Anxiety, Autacoid, Autism, Autism Spectrum Disorders, Behaviour Disorder, Belnacasan, Celecoxib, Cognition, Comorbidity, Complication, Cyclooxygenase 2, Cyclooxygenase 2 Inhibitor, Cytokine, Cytokines, Depression, Dexmedetomidine, Disease Association, Dopaminergic Transmission, Electroencephalogram, Electroencephalography, Epilepsy, Epileptogenesis, Esculetin, High Mobility Group B1 Protein, Human, Ibuprofen, Icariin, IImmunoglobulin Enhancer Binding Protein, Immunology, Indoleamine 2, Inflammation, Inflammation Mediators, Infliximab, Interleukin 1beta, Interleukin 6, Minocycline, Nerve Cell Plasticity, Nervous System Development, Nervous System Inflammation, Neuroendocrine Regulation, Neurotransmitter Release, Nonhuman, Palmidrol, Paracetamol, Physiology, Priority Journal, Prostaglandin E2, Psychology, Review, SC 51089, Schizophrenia, Toll-Like Receptor 4, Transforming Growth Factor Beta, Tryptophan Hydroxylase, Tumor Necrosis Factor, Unclassified Drug},
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{Haerian2015229,
title = {RORA gene rs12912233 and rs880626 polymorphisms and their interaction with SCN1A rs3812718 in the risk of epilepsy: A case-control study in Malaysia},
author = {B S Haerian and H M Shaári and H J Tan and C Y Fong and S W Wong and L C Ong and A A Raymond and C T Tan and Z Mohamed},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84924135981&doi=10.1016%2fj.ygeno.2015.02.001&partnerID=40&md5=209a1720cddfd76bfa515ee8940749d5},
doi = {10.1016/j.ygeno.2015.02.001},
issn = {08887543},
year = {2015},
date = {2015-01-01},
journal = {Genomics},
volume = {105},
number = {4},
pages = {229-236},
publisher = {Academic Press Inc.},
abstract = {RAR-related orphan receptors A (RORA) and B (RORB) and voltage-gated sodium channel type 1 (SCN1A) genes play critical roles in the regulation of the circadian clock. Evidence has shown an association of RORA and RORB polymorphisms with susceptibility to autism and depression. Hence, we tested the association of RORA rs12912233, rs16943429, rs880626, rs2290430, and rs12900948; RORB rs1157358, rs7022435, rs3750420, and rs3903529; and SCN1A rs3812718 with epilepsy risk in the Malaysians. DNA was genotyped in 1789 subjects (39% epilepsy patients) by using MassARRAY (Sequenom). Significant association was obtained for rs12912233 in Malaysian Chinese (p= 0.003). Interaction between rs12912233-rs880626 and rs3812718 was associated with the epilepsy risk in the subjects overall (p= 0.001). Results show that RORA rs12912233 alone might be a possible risk variant for epilepsy in Malaysian Chinese, but that, together with RORA rs880626 and SCN1A rs3812718, this polymorphism may have a synergistic effect in the epilepsy risk in Malaysians. © 2015 Elsevier Inc.},
note = {cited By 5},
keywords = {Adolescent, Adult, Article, Case-Control Studies, Controlled Study, DNA, Epilepsy, Epistasis, Female, Gene, Gene Interaction, Genetic Polymorphism, Genetic Predisposition, Genetic Predisposition to Disease, Genetic Risk, Genetic Variability, Genetics, Genotype, Group F, Human, Major Clinical Study, Malaysia, Male, Member 1, Member 2, Middle Aged, Nav1.1 Voltage-Gated Sodium Channel, Nuclear Receptor Subfamily 1, Polymorphism, Priority Journal, Retinoid Related Orphan Receptor Alpha, Retinoid Related Orphan Receptor Beta, Risk, RORA Gene, RORA Protein, RORB Protein, SCN1A Gene, SCN1A Protein, Single Nucleotide, Single Nucleotide Polymorphism, Sodium Channel Nav1.1, Young Adult},
pubstate = {published},
tppubtype = {article}
}

@article{Salih2012244,
title = {Characteristics of seizure frequency among Malaysian children diagnosed with structural-metabolic epilepsy},
author = {M R M Salih and M B Bahari and M A A Hassali and A A Shafie and O Q B Al-Lela and A Y Abd and V M Ganesan},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84870233746&doi=10.4103%2f0976-3147.102596&partnerID=40&md5=039bd22d6c38366ebfdd00a4254c20f0},
doi = {10.4103/0976-3147.102596},
issn = {09763147},
year = {2012},
date = {2012-01-01},
journal = {Journal of Neurosciences in Rural Practice},
volume = {3},
number = {3},
pages = {244-250},
abstract = {Introduction: Seizure-free patients or substantial reduction in seizure frequency are the most important outcome measures in the management of epilepsy. The study aimed to evaluate the patterns of seizure frequency and its relationship with demographics, clinical characteristics, and outcomes. Materials and Methods: A retrospective cohort study was conducted at the Pediatric Neurology Clinic, Hospital Pulau Pinang. Over a period of 6 months, the required data were extracted from the medical records using a pre-designed data collection form. Results: Seizure frequency showed no significant association with patient's demographics and clinical characteristic. However, significant reduction in seizure frequency from the baseline to the last follow-up visit was only seen in certain subgroups of patients including Malays, females, patients <4 years of age, patients with global developmental delay/intellectual disability, and patients with focal seizure. There was no significant association between seizure frequency and rate of adverse events. Polytherapy visits were associated with higher seizure frequency than monotherapy visits (27.97 ± 56.66, 10.94 ± 30.96 attack per month, respectively) (P < 0.001). There was a clear tendency to get antiepileptic drugs used at doses above the recommended range in polytherapy (8.4%) rather than in monotherapy (1.4%) visits (P < 0.001). A significant correlation was found between seizure frequency and number of visits per patient per year (r = 0.450, P < 0.001). Conclusion: Among children with structural-metabolic epilepsy, Malays, females, patients <4 years of age, patients with global developmental delay/intellectual disability and patients manifested with focal seizure are more responsive antiepileptic drug therapy than the other subgroups of patients.},
note = {cited By 1},
keywords = {Adolescent, Anticonvulsive Agent, Article, Autism, Benign Childhood Epilepsy, Brain Disease, Carbamazepine, Cerebral Palsy, Children, Chinese, Clonazepam, Cohort Analysis, Congenital Toxoplasmosis, Controlled Study, Corpus Callosum Agenesis, Dandy Walker Syndrome, Degenerative Disease, Developmental Disorders, Disorders of Mitochondrial Functions, Down Syndrome, Epilepsy, Ethnicity, Etiracetam, Female, Focal Epilepsy, Happy Puppet Syndrome, Human, Hydrocephalus, Indian, Intellectual Impairment, Lamotrigine, Major Clinical Study, Malay, Male, Medical Record, Microcephaly, Monotherapy, Preschool Child, Priority Journal, Retrospective Study, School Child, Seizure, Structural Metabolic Epilepsy, Tuberous Sclerosis, Valproic Acid, Wilson Disease},
pubstate = {published},
tppubtype = {article}
}

@article{Tan2012210,
title = {De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+)},
author = {E H Tan and S A Razak and J M Abdullah and A A Mohamed Yusoff},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84870296042&doi=10.1016%2fj.eplepsyres.2012.08.004&partnerID=40&md5=25cc4eeb07db2492a7c04c6b3b3b2167},
doi = {10.1016/j.eplepsyres.2012.08.004},
issn = {09201211},
year = {2012},
date = {2012-01-01},
journal = {Epilepsy Research},
volume = {102},
number = {3},
pages = {210-215},
abstract = {Generalized epilepsy with febrile seizures plus (GEFS+) comprises a group of clinically and genetically heterogeneous epilepsy syndrome. Here, we provide the first report of clinical presentation and mutational analysis of SCN1A gene in 36 Malaysian GEFS+ patients. Mutational analysis of SCN1A gene revealed twenty seven sequence variants (missense mutation and silent polymorphism also intronic polymorphism), as well as 2 novel de-novo mutations were found in our patients at coding regions, c.5197A>G (N1733D) and c.4748A>G (H1583R). Our findings provide potential genetic insights into the pathogenesis of GEFS+ in Malaysian populations concerning the SCN1A gene mutations. © 2012 Elsevier B.V.},
note = {cited By 2},
keywords = {Alanine, Amino Acid Substitution, Arginine, Article, Asparagine, Aspartic Acid, Children, Clinical Article, Clinical Feature, Controlled Study, Disease Association, DNA Mutational Analysis, DNA Sequence, Electroencephalography, Epilepsy, Febrile, Febrile Convulsion, Female, Gene, Gene Frequency, Gene Identification, Generalized, Generalized Epilepsy, Genetic Association, Genetic Predisposition, Genetic Screening, Genetic Variability, Glycine, Histidine, Human, Infant, Malaysia, Male, Missense Mutation, Molecular Pathology, Mutation, Mutational Analysis, Mutator Gene, Nav1.1 Voltage-Gated Sodium Channel, Onset Age, Patient Assessment, Polymorphism, Preschool Child, Priority Journal, Promoter Region, School Child, Seizure, Sequence Analysis, Single Nucleotide, Single Nucleotide Polymorphism, Sodium Channel Nav1.1, Voltage Gated Sodium Channel Alpha1 Subunit Gene},
pubstate = {published},
tppubtype = {article}
}