@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{Brett2014,
title = {Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel},
author = {M Brett and J McPherson and Z J Zang and A Lai and E -S Tan and I Ng and L -C Ong and B Cham and P Tan and S Rozen and E -C Tan},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84898625023&doi=10.1371%2fjournal.pone.0093409&partnerID=40&md5=f673e204a009bf84de81ea69dcd026db},
doi = {10.1371/journal.pone.0093409},
issn = {19326203},
year = {2014},
date = {2014-01-01},
journal = {PLoS ONE},
volume = {9},
number = {4},
publisher = {Public Library of Science},
abstract = {Developmental delay and/or intellectual disability (DD/ID) affects 1-3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for genetically heterogeneous conditions. We report on our experiences with using massively parallel sequencing of a targeted gene panel of 355 genes for investigating the genetic etiology of eight patients with a wide range of phenotypes including DD/ID, congenital anomalies and/or autism spectrum disorder. Targeted sequence enrichment was performed using the Agilent SureSelect Target Enrichment Kit and sequenced on the Illumina HiSeq2000 using paired-end reads. For all eight patients, 81-84% of the targeted regions achieved read depths of at least 20×, with average read depths overlapping targets ranging from 322 × to 798 ×. Causative variants were successfully identified in two of the eight patients: a nonsense mutation in the ATRX gene and a canonical splice site mutation in the L1CAM gene. In a third patient, a canonical splice site variant in the USP9X gene could likely explain all or some of her clinical phenotypes. These results confirm the value of targeted MPS for investigating DD/ID in children for diagnostic purposes. However, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism. © 2014 Brett et al.},
note = {cited By 20},
keywords = {Article, ATRX Gene, Autism, Autism Spectrum Disorders, Children, Clinical Article, Congenital Abnormalities, Congenital Malformation, Controlled Study, Diagnostic Test, DNA Mutational Analysis, Female, Gene, Gene Expression Profiling, Gene Mutation, Gene Targeting, Genetic Association, Genetic Association Studies, Genetic Disorder, Genetic Variability, Genetic Variation, Genetics, Genome-Wide Association Study, High Throughput Sequencing, High-Throughput Nucleotide Sequencing, Human, Intellectual Disability, Intellectual Impairment, Karyotype, L1CAM Gene, Male, Mutation, Nonsense Mutation, Nucleotide Sequence, Phenotype, Polymorphism, RNA Splice Sites, RNA Splicing, Single Nucleotide, Single Nucleotide Polymorphism},
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}
}