2012 |
Tan, E H; Yusoff, A A M; Abdullah, J M; Razak, S A Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient Journal Article Journal of Pediatric Neurosciences, 7 (2), pp. 123-125, 2012, ISSN: 18171745, (cited By 3). Abstract | Links | BibTeX | Tags: Adolescent, Anxiety Disorder, Article, Autism, Carbamazepine, Case Report, Computer Assisted Tomography, Electroencephalogram, Electroencephalography, Febrile Convulsion, Gene, Generalized Epilepsy, Generalized Epilepsy with Febrile Seizure Plus, Human, Karyotype, Malaysia, Male, Medical History, Mental Deficiency, Missense Mutation, Nuclear Magnetic Resonance Imaging, Phenotype, SCN1A Gene, Tonic Clonic Seizure, Topiramate, Valproic Acid @article{Tan2012123, title = {Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient}, author = {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&partnerID=40&md5=b73f0bdb583e84404e0fff232faf30cb}, doi = {10.4103/1817-1745.102575}, issn = {18171745}, year = {2012}, date = {2012-01-01}, journal = {Journal of Pediatric Neurosciences}, volume = {7}, number = {2}, pages = {123-125}, abstract = {In this report, 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).}, note = {cited By 3}, keywords = {Adolescent, Anxiety Disorder, Article, Autism, Carbamazepine, Case Report, Computer Assisted Tomography, Electroencephalogram, Electroencephalography, Febrile Convulsion, Gene, Generalized Epilepsy, Generalized Epilepsy with Febrile Seizure Plus, Human, Karyotype, Malaysia, Male, Medical History, Mental Deficiency, Missense Mutation, Nuclear Magnetic Resonance Imaging, Phenotype, SCN1A Gene, Tonic Clonic Seizure, Topiramate, Valproic Acid}, pubstate = {published}, tppubtype = {article} } In this report, 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). |
2010 |
Patel, V; Maj, M; Flisher, A J; Silva, De M J; Koschorke, M; Prince, M; Tempier, R; Riba, M B; Sanchez, M; Campodonico, F D; Risco, L; Gask, L; Wahlberg, H; Roca, M; Lecic-Tosevski, D; Soghoyan, A; Moussaoui, D; Baddoura, C; Adeyemi, J; Rataemane, S; Jalili, S A; Mohandas, E; Shinfuku, N; Freidin, J; Stagnaro, J C; Puig, I J; Kirkby, K; Musalek, M; Ismayilov, N; Rabbani, G; Harvey, S; Sabbe, B; Noya-Tapia, N; Burgic-Radmanovic, M; Hetem, L A; Vasconcellos, F; Maass, J; Miranda, C; Papaneophytou, N; Raboch, J; Fink-Jensen, A; Okasha, A; Korkeila, J; Guelfi, J D; Schneider, F; Ohene, S; Christodoulou, G; Soldatos, C R; Barrera, S K E Q; Mendoza, M; Kallivayalil, R A; Gudarzi, S S; Lafta, M R; Bassi, M; Clerici, M; Gibson, R; Kojima, T; Nurmagambetova, S; Cho, S -C; Kadyrova, T; Mikati, N; Bajraktarov, S; Yen, T H; Ayushjav, B; Stevovic, L I; Molina, J S S; Gureje, O; Johannessen, J O; Chaudhry, H R; Al-Ashhab, B; Araszkiewicz, A; Prelipceanu, D; Krasnov, V; Bogdanov, A; Jasovic-Gasic, M; Vavrusova, L; Pregelj, P; Liria, A F; Abdelrahman, A; Udomratn, P; Ulas, H; Gokaip, P; Kigozi, F N; Richardson, G Reducing the treatment gap for mental disorders: A WPA survey Journal Article World Psychiatry, 9 (3), pp. 169-176, 2010, ISSN: 17238617, (cited By 127). Abstract | Links | BibTeX | Tags: Anxiety Disorder, Article, Atomoxetine, Atypical Antipsychotic Agent, Autism, Benzodiazepine, Bipolar Disorder, Central Nervous System Stimulants, Cholinesterase Inhibitor, Cognitive Therapy, Community Mental Health Center, Conduct Disorder, Cost Effectiveness Analysis, Dementia, Depression, Evidence-based Practice, Family, Family Therapy, Haloperidol, Health Care, Health Care Access, Health Care Delivery, Health Care Personnel, Health Practitioner, Health Survey, Help Seeking Behavior, Home Mental Health Care, Human, Hyperkinesia, Long Term Care, Lowest Income Group, Mental Deficiency, Mental Disease, Mental Health, Mental Health Care, Mental Health Service, Nootropic Agent, Open Ended Questionnaire, Outcome Assessment, Patient Compliance, Personality Disorder, Practice Guideline, Priority Journal, Psychiatry, Psychoeducation, Psychotherapy, Schizophrenia, Serotonin Noradrenalin Reuptake Inhibitor, Serotonin Uptake Inhibitor, Substance Abuse, Therapy, Therapy Delay, Tricyclic Antidepressant Agent, World Health Organization @article{Patel2010169, title = {Reducing the treatment gap for mental disorders: A WPA survey}, author = {V Patel and M Maj and A J Flisher and M J De Silva and M Koschorke and M Prince and R Tempier and M B Riba and M Sanchez and F D Campodonico and L Risco and L Gask and H Wahlberg and M Roca and D Lecic-Tosevski and A Soghoyan and D Moussaoui and C Baddoura and J Adeyemi and S Rataemane and S A Jalili and E Mohandas and N Shinfuku and J Freidin and J C Stagnaro and I J Puig and K Kirkby and M Musalek and N Ismayilov and G Rabbani and S Harvey and B Sabbe and N Noya-Tapia and M Burgic-Radmanovic and L A Hetem and F Vasconcellos and J Maass and C Miranda and N Papaneophytou and J Raboch and A Fink-Jensen and A Okasha and J Korkeila and J D Guelfi and F Schneider and S Ohene and G Christodoulou and C R Soldatos and S K E Q Barrera and M Mendoza and R A Kallivayalil and S S Gudarzi and M R Lafta and M Bassi and M Clerici and R Gibson and T Kojima and S Nurmagambetova and S -C Cho and T Kadyrova and N Mikati and S Bajraktarov and T H Yen and B Ayushjav and L I Stevovic and J S S Molina and O Gureje and J O Johannessen and H R Chaudhry and B Al-Ashhab and A Araszkiewicz and D Prelipceanu and V Krasnov and A Bogdanov and M Jasovic-Gasic and L Vavrusova and P Pregelj and A F Liria and A Abdelrahman and P Udomratn and H Ulas and P Gokaip and F N Kigozi and G Richardson}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-79851492757&doi=10.1002%2fj.2051-5545.2010.tb00305.x&partnerID=40&md5=ebf47e1e84f22271aea10a73c93e9892}, doi = {10.1002/j.2051-5545.2010.tb00305.x}, issn = {17238617}, year = {2010}, date = {2010-01-01}, journal = {World Psychiatry}, volume = {9}, number = {3}, pages = {169-176}, publisher = {Blackwell Publishing Ltd}, abstract = {The treatment gap for people with mental disorders exceeds 50% in all countries of the world, approaching astonishingly high rates of 90% in the least resourced countries. We report the findings of the first systematic survey of leaders of psychiatry in nearly 60 countries on the strategies for reducing the treatment gap. We sought to elicit the views of these representatives on the roles of different human resources and health care settings in delivering care and on the importance of a range of strategies to increase the coverage of evidence-based treatments for priority mental disorders for each demographic stage (childhood, adolescence, adulthood and old age). Our findings clearly indicate three strategies for reducing the treatment gap: increasing the numbers of psychiatrists and other mental health professionals; increasing the involvement of a range of appropriately trained non-specialist providers; and the active involvement of people affected by mental disorders. This is true for both high income and low/middle income countries, though relatively of more importance in the latter. We view this survey as a critically important first step in ascertaining the position of psychiatrists, one of the most influential stakeholder communities in global mental health, in addressing the global challenge of scaling up mental health services to reduce the treatment gap.}, note = {cited By 127}, keywords = {Anxiety Disorder, Article, Atomoxetine, Atypical Antipsychotic Agent, Autism, Benzodiazepine, Bipolar Disorder, Central Nervous System Stimulants, Cholinesterase Inhibitor, Cognitive Therapy, Community Mental Health Center, Conduct Disorder, Cost Effectiveness Analysis, Dementia, Depression, Evidence-based Practice, Family, Family Therapy, Haloperidol, Health Care, Health Care Access, Health Care Delivery, Health Care Personnel, Health Practitioner, Health Survey, Help Seeking Behavior, Home Mental Health Care, Human, Hyperkinesia, Long Term Care, Lowest Income Group, Mental Deficiency, Mental Disease, Mental Health, Mental Health Care, Mental Health Service, Nootropic Agent, Open Ended Questionnaire, Outcome Assessment, Patient Compliance, Personality Disorder, Practice Guideline, Priority Journal, Psychiatry, Psychoeducation, Psychotherapy, Schizophrenia, Serotonin Noradrenalin Reuptake Inhibitor, Serotonin Uptake Inhibitor, Substance Abuse, Therapy, Therapy Delay, Tricyclic Antidepressant Agent, World Health Organization}, pubstate = {published}, tppubtype = {article} } The treatment gap for people with mental disorders exceeds 50% in all countries of the world, approaching astonishingly high rates of 90% in the least resourced countries. We report the findings of the first systematic survey of leaders of psychiatry in nearly 60 countries on the strategies for reducing the treatment gap. We sought to elicit the views of these representatives on the roles of different human resources and health care settings in delivering care and on the importance of a range of strategies to increase the coverage of evidence-based treatments for priority mental disorders for each demographic stage (childhood, adolescence, adulthood and old age). Our findings clearly indicate three strategies for reducing the treatment gap: increasing the numbers of psychiatrists and other mental health professionals; increasing the involvement of a range of appropriately trained non-specialist providers; and the active involvement of people affected by mental disorders. This is true for both high income and low/middle income countries, though relatively of more importance in the latter. We view this survey as a critically important first step in ascertaining the position of psychiatrists, one of the most influential stakeholder communities in global mental health, in addressing the global challenge of scaling up mental health services to reduce the treatment gap. |
2008 |
Tan, K L; Yadav, H Reassessment on the development of children with disability in Malaysia Journal Article Medical Journal of Malaysia, 63 (1), pp. 17-20, 2008, ISSN: 03005283, (cited By 5). Abstract | Links | BibTeX | Tags: Article, Autism, Child Development, Children, Clinical Assessment Tool, Cohort Analysis, Controlled Study, Developmental Disorders, Developmental Screening, Disabled Children, Down Syndrome, Family, Female, Follow Up, Human, Infant, Learning Disorder, Major Clinical Study, Malaysia, Male, Mental Deficiency, Patient Selection, Pediatric Rehabilitation, Preschool, Primary Health Care, Register, Speech Disorder, Statistical Significance @article{Tan200817, title = {Reassessment on the development of children with disability in Malaysia}, author = {K L Tan and H Yadav}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-49649115291&partnerID=40&md5=8838ddaa3d9906d8b696be13e88f1baa}, issn = {03005283}, year = {2008}, date = {2008-01-01}, journal = {Medical Journal of Malaysia}, volume = {63}, number = {1}, pages = {17-20}, abstract = {This is a cohort study investigating the profile of children with disability registered with the primary health care clinics in Malaysia. The purpose of the study was to determine whether reassessment on the development of children with disability under rehabilitation should be done at three months interval or six months interval. Secondary data from the pilot project conducted by the Family Health Development Division, Ministry of Health Malaysia was used in this study. The study was carried out for seven months from 1st August 2004 until 28th February 2005. A total of 168 disabled children followed up for six months were selected in this study. Schedule of Growing Scale (SGS) II was the tool used for analysis. Results showed a statistically significant difference in the mean total SGS score at six months interval but not at three months interval. The result suggests that reassessment on children with Down Syndrome, Autism, Cerebral Palsy, mental retardation and delayed speech under rehabilitation should be carried out every six months while children with gross developmental delay and slow learner might need a longer interval for reassessment.}, note = {cited By 5}, keywords = {Article, Autism, Child Development, Children, Clinical Assessment Tool, Cohort Analysis, Controlled Study, Developmental Disorders, Developmental Screening, Disabled Children, Down Syndrome, Family, Female, Follow Up, Human, Infant, Learning Disorder, Major Clinical Study, Malaysia, Male, Mental Deficiency, Patient Selection, Pediatric Rehabilitation, Preschool, Primary Health Care, Register, Speech Disorder, Statistical Significance}, pubstate = {published}, tppubtype = {article} } This is a cohort study investigating the profile of children with disability registered with the primary health care clinics in Malaysia. The purpose of the study was to determine whether reassessment on the development of children with disability under rehabilitation should be done at three months interval or six months interval. Secondary data from the pilot project conducted by the Family Health Development Division, Ministry of Health Malaysia was used in this study. The study was carried out for seven months from 1st August 2004 until 28th February 2005. A total of 168 disabled children followed up for six months were selected in this study. Schedule of Growing Scale (SGS) II was the tool used for analysis. Results showed a statistically significant difference in the mean total SGS score at six months interval but not at three months interval. The result suggests that reassessment on children with Down Syndrome, Autism, Cerebral Palsy, mental retardation and delayed speech under rehabilitation should be carried out every six months while children with gross developmental delay and slow learner might need a longer interval for reassessment. |
Testingadminnaacuitm2020-05-28T06:49:14+00:00
2012 |
Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient Journal Article Journal of Pediatric Neurosciences, 7 (2), pp. 123-125, 2012, ISSN: 18171745, (cited By 3). |
2010 |
Reducing the treatment gap for mental disorders: A WPA survey Journal Article World Psychiatry, 9 (3), pp. 169-176, 2010, ISSN: 17238617, (cited By 127). |
2008 |
Reassessment on the development of children with disability in Malaysia Journal Article Medical Journal of Malaysia, 63 (1), pp. 17-20, 2008, ISSN: 03005283, (cited By 5). |