@artikel{Haerian2015229,
tajuk = {RORA gene rs12912233 and rs880626 polymorphisms and their interaction with SCN1A rs3812718 in the risk of epilepsy: A case-control study in Malaysia},
pengarang = {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&rakan kongsi = 40&md5=209a1720cddfd76bfa515ee8940749d5},
doi = {10.1016/j.ygeno.2015.02.001},
terbitan = {08887543},
tahun = {2015},
tarikh = {2015-01-01},
jurnal = {Genomics},
isi padu = {105},
nombor = {4},
halaman = {229-236},
penerbit = {Academic Press Inc.},
abstrak = {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. Oleh itu, 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.},
nota = {dipetik oleh 5},
kata kunci = {Remaja, Dewasa, Artikel, Case-Control Studies, Kajian Terkawal, DNA, Epilepsi, Epistasis, Perempuan, Gen, Gene Interaction, Genetic Polymorphism, Kecenderungan Genetik, Kecenderungan Genetik kepada Penyakit, Risiko Genetik, Genetic Variability, Genetik, Genotype, Group F, Manusia, Kajian Klinikal Utama, Malaysia, Lelaki, Member 1, Member 2, Pertengahan umur, Nav1.1 Voltage-Gated Sodium Channel, Nuclear Receptor Subfamily 1, Polimorfisme, Jurnal Keutamaan, Retinoid Related Orphan Receptor Alpha, Retinoid Related Orphan Receptor Beta, Risk, RORA Gene, RORA Protein, RORB Protein, SCN1A Gene, SCN1A Protein, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal, Sodium Channel Nav1.1, Dewasa Muda},
pubstate = {diterbitkan},
tppubtype = {artikel}
}

@artikel{Tan2012210,
tajuk = {De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+)},
pengarang = {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&rakan kongsi = 40&md5=25cc4eeb07db2492a7c04c6b3b3b2167},
doi = {10.1016/j.eplepsyres.2012.08.004},
terbitan = {09201211},
tahun = {2012},
tarikh = {2012-01-01},
jurnal = {Epilepsy Research},
isi padu = {102},
nombor = {3},
halaman = {210-215},
abstrak = {Generalized epilepsy with febrile seizures plus (GEFS+) comprises a group of clinically and genetically heterogeneous epilepsy syndrome. Di sini, 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.},
nota = {dipetik oleh 2},
kata kunci = {Alanine, Amino Acid Substitution, Arginine, Artikel, Asparagine, Aspartic Acid, Anak-anak, Artikel Klinikal, Clinical Feature, Kajian Terkawal, Persatuan Penyakit, DNA Mutational Analysis, DNA Sequence, Elektroensefalografi, Epilepsi, Febrile, Febrile Convulsion, Perempuan, Gen, Gene Frequency, Pengenalan Gen, Generalized, Generalized Epilepsy, Persatuan Genetik, Kecenderungan Genetik, Genetic Screening, Genetic Variability, Glycine, Histidine, Manusia, Bayi, Malaysia, Lelaki, Missense Mutation, Molecular Pathology, Mutation, Mutational Analysis, Mutator Gene, Nav1.1 Voltage-Gated Sodium Channel, Onset Age, Patient Assessment, Polimorfisme, Kanak-kanak Prasekolah, Jurnal Keutamaan, Promoter Region, Budak sekolah, Seizure, Sequence Analysis, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal, Sodium Channel Nav1.1, Voltage Gated Sodium Channel Alpha1 Subunit Gene},
pubstate = {diterbitkan},
tppubtype = {artikel}
}