@artikel{Brett2014,
tajuk = {Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel},
pengarang = {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/journal.pone.0093409&rakan kongsi = 40&md5=f673e204a009bf84de81ea69dcd026db},
doi = {10.1371/jurnal.pone.0093409},
terbitan = {19326203},
tahun = {2014},
tarikh = {2014-01-01},
jurnal = {PLoS SATU},
isi padu = {9},
nombor = {4},
penerbit = {Perpustakaan Awam Sains},
abstrak = {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. Walau bagaimanapun, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism. © 2014 Brett et al.},
nota = {dipetik oleh 20},
kata kunci = {Artikel, ATRX Gene, Autisme, Gangguan Spektrum Autisme, Anak-anak, Artikel Klinikal, Congenital Abnormalities, Congenital Malformation, Kajian Terkawal, Diagnostic Test, DNA Mutational Analysis, Perempuan, Gen, Profil Ekspresi Gen, Gene Mutation, Penyasaran Gen, Persatuan Genetik, Genetic Association Studies, Genetic Disorder, Genetic Variability, Genetic Variation, Genetik, Genome-Wide Association Study, High Throughput Sequencing, High-Throughput Nucleotide Sequencing, Manusia, Kecacatan Intelektual, Kemerosotan Intelektual, Karyotype, L1CAM Gene, Lelaki, Mutation, Nonsense Mutation, Nucleotide Sequence, Fenotip, Polimorfisme, RNA Splice Sites, RNA Splicing, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal},
pubstate = {diterbitkan},
tppubtype = {artikel}
}

@artikel{Tan2012123,
tajuk = {Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient},
pengarang = {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&rakan kongsi = 40&md5=b73f0bdb583e84404e0fff232faf30cb},
doi = {10.4103/1817-1745.102575},
terbitan = {18171745},
tahun = {2012},
tarikh = {2012-01-01},
jurnal = {Journal of Pediatric Neurosciences},
isi padu = {7},
nombor = {2},
halaman = {123-125},
abstrak = {Dalam laporan ini, 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).},
nota = {dipetik oleh 3},
kata kunci = {Remaja, Anxiety Disorder, Artikel, Autisme, Carbamazepine, Laporan kes, Computer Assisted Tomography, Elektroencephalogram, Elektroensefalografi, Febrile Convulsion, Gen, Generalized Epilepsy, Generalized Epilepsy with Febrile Seizure Plus, Manusia, Karyotype, Malaysia, Lelaki, Medical History, Mental Deficiency, Missense Mutation, Nuclear Magnetic Resonance Imaging, Fenotip, SCN1A Gene, Tonic Clonic Seizure, Topiramate, Valproic Acid},
pubstate = {diterbitkan},
tppubtype = {artikel}
}