Novel variants in established epilepsy genes in focal epilepsy

[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.