@artikel{Tsuchida2018538,
tajuk = {GRIN2D variants in three cases of developmental and epileptic encephalopathy},
pengarang = {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&rakan kongsi = 40&md5=f0d32670db57261820bc244943cffd62},
doi = {10.1111/cge.13454},
terbitan = {00099163},
tahun = {2018},
tarikh = {2018-01-01},
jurnal = {Clinical Genetics},
isi padu = {94},
nombor = {6},
halaman = {538-547},
penerbit = {Blackwell Publishing Ltd},
abstrak = {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. Baru-baru ini, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. Dalam kajian ini, 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},
nota = {dipetik oleh 4},
kata kunci = {Remaja, Allele, Amino Acid Sequence, Amino Acid Substitution, Amino Terminal Sequence, Anemia, Antibiotic Agent, Antibiotic Therapy, Artikel, Atonic Seizure, Gangguan Defisit Perhatian, Autisme, Binding Affinity, Otak, Brain Atrophy, Carbamazepine, Laporan kes, Channel Gating, Kimia, Anak-anak, Artikel Klinikal, Clinical Feature, Clobazam, Clonazepam, Conformational Transition, Continuous Infusion, Contracture, Crystal Structure, Cysteine Ethyl Ester Tc 99m, Kelewatan Perkembangan, Gangguan Perkembangan, Elektroencephalogram, Elektroensefalografi, Epilepsi, Epileptic Discharge, Ethosuximide, Eye Tracking, Febrile Convulsion, Perempuan, Frontal Lobe Epilepsy, Gen, Gene Frequency, Genetic Variation, Genetik, Genotype, GRIN2D Protein, Heterozygosity, Home Oxygen Therapy, Manusia, Sel Manusia, Hydrogen Bond, Kemerosotan Intelektual, Intelligence Quotient, Intractable Epilepsy, Ketamine, Lacosamide, Lamotrigine, Lennox Gastaut Syndrome, Levetiracetam, Magnetoencephalography, Lelaki, 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, Prasekolah, Kanak-kanak Prasekolah, Jurnal Keutamaan, Protein Conformation, Proximal Interphalangeal Joint, Pyridoxine, Receptors, Respiratory Arrest, Sanger Sequencing, Budak sekolah, 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 = {diterbitkan},
tppubtype = {artikel}
}

@artikel{Masiran2018,
tajuk = {Tingkah laku merangsang dalam kanak-kanak perempuan berusia 4 tahun dengan gangguan spektrum autisme},
pengarang = {R Diurut},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85042604824&doi = 10.1136% 2fbcr-2017-223671&rakan kongsi = 40&md5=c7b6514a4758257be1360250bf120de3},
doi = {10.1136/bcr-2017-223671},
terbitan = {1757790X},
tahun = {2018},
tarikh = {2018-01-01},
jurnal = {Laporan Kes BMJ},
isi padu = {2018},
penerbit = {Kumpulan Penerbitan BMJ},
nota = {dipetik oleh 0},
kata kunci = {Autisme, Gangguan Spektrum Autisme, biskut, Menggigit Objek Keras, Laporan kes, Mainan Kunyah, Keselamatan Kanak-kanak, Anak-anak, Artikel Klinikal, Perempuan, Makanan, Tekstur Makanan, Makanan panas, Manusia, Ketidakupayaan Bahasa, Nota, Prasekolah, Kanak-kanak Prasekolah, Jurnal Keutamaan, Psikologi, Rangsangan Diri, Makanan pedas, Kelakuan Stereotaip, Stereotaip, Tingkah Laku Merangsang, Biskut Tumbuh Gigi, sayur},
pubstate = {diterbitkan},
tppubtype = {artikel}
}

@artikel{Masiran2018b,
tajuk = {Autisme dan trikotilomania dalam remaja lelaki},
pengarang = {R Diurut},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85053164449&doi = 10.1136% 2fbcr-2018-226270&rakan kongsi = 40&md5=7eed3f6af717df527dce73838feab571},
doi = {10.1136/bcr-2018-226270},
terbitan = {1757790X},
tahun = {2018},
tarikh = {2018-01-01},
jurnal = {Laporan Kes BMJ},
isi padu = {2018},
penerbit = {Kumpulan Penerbitan BMJ},
abstrak = {Remaja yang mengalami gangguan spektrum autisme dan gangguan hiperaktif kekurangan perhatian yang tidak dirawat dengan betul ditunjukkan dengan tarikan rambut berulang. Rawatan dengan perencat pengambilan semula serotonin terpilih dan perangsang memperbaiki keadaan ini. © © BMJ Publishing Group Limited 2018.},
nota = {dipetik oleh 0},
kata kunci = {Remaja, Alopecia, Keresahan, Artikel, Gangguan Defisit Perhatian, Gangguan Hiperaktifan Kekurangan Perhatian, Autisme, Gangguan Spektrum Autisme, Gangguan Tingkah Laku, Berat badan, Laporan kes, Perangsang Sistem Saraf Pusat, Senarai Semak Tingkah Laku Kanak-kanak, Artikel Klinikal, komorbiditi, Komplikasi, Diagnosis, Berbeza, Diagnosis pembezaan, Pentitratan Dos Ubat, Toleransi Dadah, DSM-5, Echolalia, Fluvoxamine, Susulan, Manusia, Hiperaktif, Kemerosotan Intelektual, Lelaki, Metilfenidat, Obesiti, Terapi pekerjaan, Indeks Penaakulan Persepsi, Jurnal Keutamaan, Indeks Kelajuan Pemprosesan, Skala Penarafan Status Psikiatri, Skala Penarafan Psikologi, Skala penilaian, Kegelisahan, Ganjaran, Perencat Serapan Serotonin, Perencat Serapan Serotonin, Pendidikan Khas, Kelewatan Pertuturan, Gangguan Pertuturan, Terapi ucapan, Trikotilomania, Indeks Kefahaman Lisan, Skala Kepintaran Wechsler, Indeks Memori Bekerja},
pubstate = {diterbitkan},
tppubtype = {artikel}
}

@artikel{Shuib201777,
tajuk = {Penduaan 17p11.2 (Sindrom Potocki-Lupski) pada kanak-kanak yang mengalami kelewatan perkembangan},
pengarang = {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&rakan kongsi = 40&md5=624b87d1e9ebac2d1bf66b4d30c0f6e9},
terbitan = {01268635},
tahun = {2017},
tarikh = {2017-01-01},
jurnal = {Jurnal Patologi Malaysia},
isi padu = {39},
nombor = {1},
halaman = {77-81},
penerbit = {Persatuan Pakar Patologi Malaysia},
abstrak = {Sindrom Potocki-Lupski (PTLS), juga dikenali sebagai sindrom duplikasi 17p11.2, trisomi 17p11.2 atau dup(17)(p11.2p11.2) sindrom, adalah gangguan perkembangan dan sindrom gen bersebelahan yang jarang menjejaskan 1 dalam 20,000 kelahiran hidup. Antara ciri utama pesakit tersebut ialah gangguan spektrum autisme, ketidakupayaan pembelajaran, kelewatan perkembangan, gangguan kurang perhatian, hipotonia bayi dan keabnormalan kardiovaskular. Kajian terdahulu menggunakan microarray mengenal pasti variasi dalam saiz dan takat kawasan pendua kromosom 17p11.2. Walau bagaimanapun, terdapat beberapa gen yang dianggap sebagai calon PTLS termasuk RAI1, SREBF1, DRG2, LLGL1, SHMT1 dan ZFP179. Dalam laporan ini, kami menyiasat kes seorang kanak-kanak perempuan berumur 3 tahun yang mengalami kelewatan perkembangan. Analisis kromosomnya menunjukkan karyotype normal (46,XX). Analisis menggunakan tatasusunan CGH (4X44 K, Agilent USA) mengenal pasti pertindihan ~4.2 Mb de novo dalam kromosom 17p11.2. Hasilnya disahkan oleh hibridisasi in situ pendarfluor (IKAN) menggunakan probe di kawasan PTLS kritikal. Laporan ini menunjukkan kepentingan microarray dan FISH dalam diagnosis PTLS. © 2017, Persatuan Pakar Patologi Malaysia. Hak cipta terpelihara.},
nota = {dipetik oleh 0},
kata kunci = {Keabnormalan, Agarose, Artikel, Autisme, Gangguan Spektrum Autisme, Budaya Darah, Laporan kes, Anak-anak, Kromosom 17, Analisis Kromosom, Gangguan Kromosom, Penduaan Kromosom, Kromosom, Artikel Klinikal, Hibridisasi Genomik Perbandingan, Kelewatan Perkembangan, Elektroforesis, Perempuan, Pendarfluor, Pendarfluor dalam Hibridisasi Situ, Gen, Pengenalan Gen, Genetik, DNA genomik, Manusia, Hibridisasi In Situ, Kultur Limfosit, Analisis Mikroarray, Pelbagai, Sindrom Malformasi Pelbagai, berpasangan 17, Fenotip, Sindrom Potocki Lupski, Prasekolah, Kanak-kanak Prasekolah, Prosedur, Gen RAI1, Spektrofotometri ultraungu},
pubstate = {diterbitkan},
tppubtype = {artikel}
}

@artikel{Chen2014299,
tajuk = {Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings},
pengarang = {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&rakan kongsi = 40&md5=1ebfb9aedb7cb64e3423811b41b6aa7c},
doi = {10.1159/000366074},
terbitan = {16618769},
tahun = {2014},
tarikh = {2014-01-01},
jurnal = {Molecular Syndromology},
isi padu = {5},
nombor = {6},
halaman = {299-303},
penerbit = {S. Karger AG},
abstrak = {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, termasuk kecacatan intelektual, seizures, microcephaly, autistic behavior, and eye abnormalities. Di sini, 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 dan 578 mmol/mol creatinine, masing-masing) and thymine (425 dan 427 mmol/mol creatinine, masing-masing). Sequence analysis of the DPYD gene showed that both siblings were homozygous for the mutation c.1651G>A (pAla551Thr). © 2014 S. Karger AG, Basel.},
nota = {dipetik oleh 4},
kata kunci = {Alanine, Artikel, Asymptomatic Disease, Autisme, Autosomal Recessive Disorder, Laporan kes, Cerebellum Atrophy, Anak-anak, Creatinine, Dihydropyrimidine Dehydrogenase, Dihydropyrimidine Dehydrogenase Deficiency, Keterukan Penyakit, DPYD Gene, Eye Malformation, Perempuan, Gen, Gene Mutation, Homozygosity, Manusia, Kemerosotan Intelektual, Orang Malaysia, Lelaki, Microcephaly, Muscle Hypotonia, Nuclear Magnetic Resonance Imaging, Kanak-kanak Prasekolah, Pyrimidine, Pyrimidine Metabolism, Budak sekolah, Seizure, Sequence Analysis, Sibling, Threonine, Thymine, Uracil},
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}
}

@artikel{Kasmini1995641,
tajuk = {Sindrom Asperger: laporan dua kes dari Malaysia.},
pengarang = {K Kasmini dan S Zasmani},
url = {https://www.scopus.com/inward/record.uri?eid = 2-s2.0-0029445569&rakan kongsi = 40&md5 = 6280382e5c679f84eea178a916b2e19f},
terbitan = {00375675},
tahun = {1995},
tarikh = {1995-01-01},
jurnal = {Jurnal perubatan Singapura},
isi padu = {36},
nombor = {6},
halaman = {641-643},
abstrak = {Sindrom Asperger adalah varian autisme yang berbeza, dengan kadar kelaziman sebanyak 10 ke 26 per 10,000 kecerdasan normal, dan 0.4 per 10,000 pada mereka yang mengalami kerencatan mental ringan. Sindrom ini kini mempunyai kriteria entiti dan diagnostiknya sendiri. Ia secara rasmi disenaraikan dalam ICD-10 di bawah gangguan perkembangan yang meluas. Dua kes seperti ini dijelaskan dalam artikel ini. Kes Satu tidak mempunyai kemampuan untuk berhubungan dengan orang lain, terlalu sibuk dengan pelakon mendiang P. Ramlee dan memperlihatkan tingkah laku pelik menggunakan sikat gigi pada masa kecilnya. Secara kognitif, dia tidak dapat mensintesis perkataan menjadi ayat yang bermakna. Begitu juga, Kes Kedua tidak dapat berhubungan baik dengan yang lain dan sibuk dengan planet dan burujnya. Walaupun dia tampil cerdas dengan skor IQ 101, dia tidak dapat mengikuti arahan di sekolah. Kedua-dua anak mengalami kekejangan motor dan memenuhi kriteria untuk diagnosis Sindrom Asperger.},
nota = {dipetik oleh 2},
kata kunci = {Artikel, Autisme, Gangguan Spektrum Autisme, Laporan kes, Gangguan Perkembangan Kanak-kanak, Anak-anak, Pengelasan (maklumat), Manusia, Gangguan Perkembangan Bahasa, Ketidakupayaan Bahasa, Malaysia, Lelaki, Meresap, Skala Penarafan Status Psikiatri, Aspek Psikologi, Skala Penarafan Psikologi, Kelakuan Sosial, Kelakuan Stereotaip, Stereotaip, Sindrom},
pubstate = {diterbitkan},
tppubtype = {artikel}
}