Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy
暂无分享,去创建一个
Yaqing Guo | Linlin Zhang | Erfeng Yuan | S. Cui | Xiaoli Zhang | Yuan Tian | Hailiang Liu | L. Liang | Wei Lei | Jinshuang Gao | Haiyang Yu | Xiaoan Zhang | Ying Li
[1] J. Rakotomamonjy,et al. Characterization of seizure susceptibility in Pcdh19 mice , 2020, Epilepsia.
[2] J. Gécz,et al. Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics. , 2020, Current opinion in genetics & development.
[3] R. Macdonald,et al. Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes. , 2019, Brain : a journal of neurology.
[4] Ethan M. Goldberg,et al. Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy , 2019, JAMA network open.
[5] Yiping Shen,et al. Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience , 2018, Genetics in Medicine.
[6] Renan Valieris,et al. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases , 2018, The application of clinical genetics.
[7] S. Zuberi,et al. Dravet syndrome and its mimics: Beyond SCN1A , 2017, Epilepsia.
[8] Tobias Loddenkemper,et al. Early-Life Epilepsies and the Emerging Role of Genetic Testing , 2017, JAMA pediatrics.
[9] S. Zuberi,et al. Advances in epilepsy gene discovery and implications for epilepsy diagnosis and treatment , 2017, Current opinion in neurology.
[10] Asla Pitkänen,et al. Advances in the development of biomarkers for epilepsy , 2016, The Lancet Neurology.
[11] D. Kolbe,et al. Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies , 2016, BioMed research international.
[12] J. Conroy,et al. Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion , 2016, Epilepsia.
[13] R. Scott,et al. GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy , 2015, Developmental medicine and child neurology.
[14] W. Chung,et al. Clinical application of whole-exome sequencing across clinical indications , 2015, Genetics in Medicine.
[15] Eric Vilain,et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. , 2014, JAMA.
[16] Michael R. Johnson,et al. Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies , 2014, The Lancet Neurology.
[17] P. Curatolo,et al. Epilepsy associated with autism and attention deficit hyperactivity disorder: Is there a genetic link? , 2014, Brain and Development.
[18] Michael R. Johnson,et al. De novo mutations in the classic epileptic encephalopathies , 2013, Nature.
[19] L. Vissers,et al. Point mutations as a source of de novo genetic disease. , 2013, Current opinion in genetics & development.
[20] S. Tsuji,et al. Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients , 2013, PloS one.
[21] D. Nordli. Epileptic Encephalopathies in Infants and Children , 2012, Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.
[22] Birgit Zirn,et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study , 2012, The Lancet Neurology.
[23] David B. Goldstein,et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood , 2012, Nature Genetics.
[24] E. Funkhouser,et al. Incidence and prevalence of epilepsy among older US Medicare beneficiaries , 2012, Neurology.
[25] P. Striano,et al. The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies , 2012, Seizure.
[26] J. Shendure,et al. Exome sequencing as a tool for Mendelian disease gene discovery , 2011, Nature Reviews Genetics.
[27] J. Kleinman,et al. Spatiotemporal transcriptome of the human brain , 2011, Nature.
[28] Caleb Davis,et al. Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy , 2011, Cell.
[29] M. DePristo,et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.
[30] Seema M Jamal,et al. Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome , 2010, American journal of medical genetics. Part A.
[31] H. Hakonarson,et al. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.
[32] S. Jóźwiak,et al. Tuberous sclerosis , 2008, The Lancet.
[33] Naomichi Matsumoto,et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy , 2008, Nature Genetics.
[34] Y. Maegaki,et al. Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter , 2008, Brain and Development.
[35] Michael Westerveld,et al. Global cognitive function in children with epilepsy: A community‐based study , 2008, Epilepsia.
[36] Arjen Brussaard,et al. Munc18-1 expression levels control synapse recovery by regulating readily releasable pool size , 2006, Proceedings of the National Academy of Sciences.
[37] P. Crino,et al. The tuberous sclerosis complex. , 2006, The New England journal of medicine.
[38] J. DeFelipe,et al. Correlation of transcriptome profile with electrical activity in temporal lobe epilepsy , 2006, Neurobiology of Disease.
[39] William B Dobyns,et al. Mutations in the Na+/K+-ATPase α3 Gene ATP1A3 Are Associated with Rapid-Onset Dystonia Parkinsonism , 2004, Neuron.
[40] R. Siebert,et al. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. , 2002, Human molecular genetics.
[41] D. Ledbetter,et al. Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1) , 2002, Human mutation.
[42] W. Hauser,et al. Autosomal dominant partial epilepsy with auditory features: Defining the phenotype , 2000, Neurology.
[43] De novo mutations in epileptic encephalopathies , 2013 .
[44] Hilde van der Togt,et al. Publisher's Note , 2003, J. Netw. Comput. Appl..
[45] D. Kwiatkowski,et al. Tuberous sclerosis. , 1994, Archives of dermatology.