Novel variants in established epilepsy genes in focal epilepsy
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A. Ristić | D. Sokić | N. Vojvodić | I. Novaković | M. Branković | M. Janković | M. Kovačević | J. Shamsani | O. Milićević | Ognjen Milićević
[1] A. Ristić,et al. Novel GATOR1 variants in focal epilepsy , 2023, Epilepsy & Behavior.
[2] A. Mehrabyan,et al. Managing Myasthenia Gravis with Eculizumab Monotherapy Through Pregnancy , 2022, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.
[3] Jonathan M. Mudge,et al. A joint NCBI and EMBL-EBI transcript set for clinical genomics and research , 2022, Nature.
[4] Sean T. Hwang,et al. Multigene Panel Testing in a Large Cohort of Adults With Epilepsy , 2021, Neurology: Genetics.
[5] Kai Wang,et al. MetaRNN: differentiating rare pathogenic and rare benign missense SNVs and InDels using deep learning , 2021, bioRxiv.
[6] Í. Lopes-Cendes,et al. Multi-omics in mesial temporal lobe epilepsy with hippocampal sclerosis: Clues into the underlying mechanisms leading to disease , 2021, Seizure.
[7] B. Zukic,et al. The first insight into the genetic structure of the population of modern Serbia , 2020, Scientific Reports.
[8] Mami Shibata,et al. Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy , 2020, Journal of Human Genetics.
[9] I. Scheffer,et al. Focal epilepsy in SCN1A‐mutation carrying patients: is there a role for epilepsy surgery? , 2020, Developmental medicine and child neurology.
[10] G. Rubboli,et al. Utility of genetic testing for therapeutic decision‐making in adults with epilepsy , 2020, Epilepsia.
[11] T. Meitinger,et al. Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes , 2020, Journal of Medical Genetics.
[12] F. Santorelli,et al. Customized multigene panels in epilepsy: the best things come in small packages , 2019, neurogenetics.
[13] D. Andrade,et al. Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability , 2019, Epilepsia.
[14] David G. Knowles,et al. Predicting Splicing from Primary Sequence with Deep Learning , 2019, Cell.
[15] Michael R. Johnson,et al. Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals , 2019, bioRxiv.
[16] P. Kind,et al. GRIN2A-related disorders: genotype and functional consequence predict phenotype , 2018, Brain : a journal of neurology.
[17] Gregory M. Cooper,et al. CADD: predicting the deleteriousness of variants throughout the human genome , 2018, Nucleic Acids Res..
[18] Mark Gerstein,et al. GENCODE reference annotation for the human and mouse genomes , 2018, Nucleic Acids Res..
[19] A. Biraben,et al. The landscape of epilepsy-related GATOR1 variants , 2018, Genetics in Medicine.
[20] J. Gécz,et al. PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy , 2018, Neurobiology of Disease.
[21] C. Ng,et al. Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel , 2018, Front. Neurol..
[22] A. Poduri,et al. PCDH19‐related epilepsy is associated with a broad neurodevelopmental spectrum , 2018, Epilepsia.
[23] C. Korff,et al. Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report , 2018, Developmental medicine and child neurology.
[24] Chunlei Liu,et al. ClinVar: improving access to variant interpretations and supporting evidence , 2017, Nucleic Acids Res..
[25] I. Scheffer,et al. Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy , 2017, Epilepsy Research.
[26] Michael R. Johnson,et al. Ultra-rare genetic variation in common epilepsies: a case-control sequencing study , 2017, The Lancet Neurology.
[27] Trevor Hastie,et al. REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. , 2016, American journal of human genetics.
[28] G. Carvill,et al. A targeted resequencing gene panel for focal epilepsy , 2016, Neurology.
[29] F. Cunningham,et al. The Ensembl Variant Effect Predictor , 2016, bioRxiv.
[30] I. Scheffer,et al. The genetic landscape of the epileptic encephalopathies of infancy and childhood , 2016, The Lancet Neurology.
[31] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.
[32] B. Li,et al. The SCN1A Mutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype , 2015, Human mutation.
[33] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[34] Samuel F. Berkovic,et al. The hidden genetics of epilepsy—a clinically important new paradigm , 2014, Nature Reviews Neurology.
[35] Pavlos Pavlidis,et al. 1000 Genomes Selection Browser 1.0: a genome browser dedicated to signatures of natural selection in modern humans , 2013, Nucleic Acids Res..
[36] M. DePristo,et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.
[37] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[38] G. Mathern,et al. Definition of drug resistant epilepsy: Consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies , 2009, Epilepsia.
[39] Richard Durbin,et al. Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .
[40] Christoph Lossin. A catalog of SCN1A variants , 2009, Brain and Development.
[41] C. Depienne,et al. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients , 2008, Journal of Medical Genetics.
[42] Alejandro A. Schäffer,et al. Database indexing for production MegaBLAST searches , 2008, Bioinform..
[43] K. Friend,et al. Epilepsy and mental retardation limited to females: an under-recognized disorder. , 2008, Brain : a journal of neurology.
[44] I. Scheffer,et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. , 2007, Brain : a journal of neurology.
[45] K. Yamakawa,et al. Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents , 2003, Epilepsy Research.
[46] OUP accepted manuscript , 2022, Brain.