A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
暂无分享,去创建一个
M. Daly | I. Scheffer | A. Palotie | J. Massano | F. Andermann | R. Michelucci | S. Berkovic | S. Petrou | M. Duchowny | A. Crespel | H. Lerche | K. Samocha | R. Møller | A. Filla | S. Franceschetti | A. Espay | E. Andermann | K. Oliver | V. Saletti | A. Gambardella | T. Joensuu | M. Privitera | M. King | B. Ben-Zeev | J. Ahmad | E. Ferlazzo | L. Canafoglia | L. Dibbens | S. Maljevic | L. Licchetta | P. Tinuper | A. Lehesjoki | D. Andrade | R. Straussberg | B. Baykan | E. Lohmann | M. Hildebrand | B. Engelsen | C. Ozkara | E. Said | Z. Afawi | C. Criscuolo | Karen L. Oliver | M. Lindenau | M. Muona | S. Heron | P. Riguzzi | M. A. Bayly | S. Markkinen | M. Topçu | Adeel Ahmad | B. Kauffmann | Marta A. Bayly
[1] T. Joensuu,et al. Abnormal microglial activation in the Cstb−/− mouse, a model for progressive myoclonus epilepsy, EPM1 , 2015, Glia.
[2] Stephan J Sanders,et al. A framework for the interpretation of de novo mutation in human disease , 2014, Nature Genetics.
[3] F. Zara,et al. Expanding sialidosis spectrum by genome-wide screening , 2014, Neurology.
[4] Mohamed Chahine,et al. Biophysics, pathophysiology, and pharmacology of ion channel gating pores , 2014, Front. Pharmacol..
[5] E. Reinmaa,et al. Gene Expression Alterations in the Cerebellum and Granule Neurons of Cstb−/− Mouse Are Associated with Early Synaptic Changes and Inflammation , 2014, PloS one.
[6] P. Striano,et al. Progressive myoclonic epilepsies , 2014, Neurology.
[7] J. Shendure,et al. A general framework for estimating the relative pathogenicity of human genetic variants , 2014, Nature Genetics.
[8] Y. Sekino,et al. Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells , 2014, The Journal of physiology.
[9] Jonathan E. Dickerson,et al. The genetic basis of DOORS syndrome: an exome-sequencing study , 2014, The Lancet Neurology.
[10] María Martín,et al. Activities at the Universal Protein Resource (UniProt) , 2013, Nucleic Acids Res..
[11] A. Jalanko,et al. Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. , 2013, Biochimica et biophysica acta.
[12] Jiannis Ragoussis,et al. Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model , 2013, Brain : a journal of neurology.
[13] E. Boerwinkle,et al. dbNSFP v2.0: A Database of Human Non‐synonymous SNVs and Their Functional Predictions and Annotations , 2013, Human mutation.
[14] D. Goldstein,et al. Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes , 2013, PLoS genetics.
[15] J. Gécz,et al. TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation , 2013, Epilepsy Research.
[16] B. Browning,et al. Improving the Accuracy and Efficiency of Identity-by-Descent Detection in Population Data , 2013, Genetics.
[17] Ellen T. Gelfand,et al. The Genotype-Tissue Expression (GTEx) project , 2013, Nature Genetics.
[18] B. Bender,et al. Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum , 2013, Orphanet Journal of Rare Diseases.
[19] A. Tolun,et al. TBC1D24 truncating mutation resulting in severe neurodegeneration , 2013, Journal of Medical Genetics.
[20] A. Tessa,et al. Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture , 2012, Human mutation.
[21] Kenny Q. Ye,et al. An integrated map of genetic variation from 1,092 human genomes , 2012, Nature.
[22] S. Steinberg,et al. Rate of de novo mutations and the importance of father’s age to disease risk , 2012, Nature.
[23] S. Gallati,et al. Targeted next generation sequencing as a diagnostic tool in epileptic disorders , 2012, Epilepsia.
[24] B. Paradiso,et al. Loss of cortical GABA terminals in Unverricht–Lundborg disease , 2012, Neurobiology of Disease.
[25] Jian Ye,et al. Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction , 2012, BMC Bioinformatics.
[26] Murat Sincan,et al. Detecting false‐positive signals in exome sequencing , 2012, Human mutation.
[27] D. Papazian,et al. Altered Kv3.3 channel gating in early‐onset spinocerebellar ataxia type 13 , 2012, The Journal of physiology.
[28] D. Terman,et al. Alternative Splicing Regulates Kv3.1 Polarized Targeting to Adjust Maximal Spiking Frequency* , 2011, The Journal of Biological Chemistry.
[29] Melanie Bahlo,et al. A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. , 2011, American journal of human genetics.
[30] Fadi A. Issa,et al. Spinocerebellar Ataxia Type 13 Mutant Potassium Channel Alters Neuronal Excitability and Causes Locomotor Deficits in Zebrafish , 2011, The Journal of Neuroscience.
[31] M. Hall,et al. Importance of Glycosylation on Function of a Potassium Channel in Neuroblastoma Cells , 2011, PloS one.
[32] S. Pulst,et al. Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13) , 2011, PloS one.
[33] M. DePristo,et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.
[34] Helga Thorvaldsdóttir,et al. Integrative Genomics Viewer , 2011, Nature Biotechnology.
[35] W. Robberecht,et al. Mutations in SACS cause atypical and late-onset forms of ARSACS , 2010, Neurology.
[36] J. Gécz,et al. A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. , 2010, American journal of human genetics.
[37] F. Benfenati,et al. TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. , 2010, American journal of human genetics.
[38] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[39] Jana Marie Schwarz,et al. MutationTaster evaluates disease-causing potential of sequence alterations , 2010, Nature Methods.
[40] Daniel Rios,et al. Bioinformatics Applications Note Databases and Ontologies Deriving the Consequences of Genomic Variants with the Ensembl Api and Snp Effect Predictor , 2022 .
[41] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[42] S. Pulst,et al. KCNC3: phenotype, mutations, channel biophysics—a study of 260 familial ataxia patients , 2010, Human mutation.
[43] Heike Wulff,et al. Voltage-gated potassium channels as therapeutic targets , 2009, Nature Reviews Drug Discovery.
[44] F. Andermann,et al. SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure , 2009, Annals of neurology.
[45] Richard Durbin,et al. Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .
[46] Maria K. Lehtinen,et al. Cystatin B Deficiency Sensitizes Neurons to Oxidative Stress in Progressive Myoclonus Epilepsy, EPM1 , 2009, The Journal of Neuroscience.
[47] B. Minassian,et al. The autosomal recessively inherited progressive myoclonus epilepsies and their genes , 2009, Epilepsia.
[48] S. Henikoff,et al. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.
[49] R. Vanninen,et al. Clinical picture of EPM1‐Unverricht‐Lundborg disease , 2008, Epilepsia.
[50] R. D'Hooge,et al. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. , 2008, American journal of human genetics.
[51] Manuel A. R. Ferreira,et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. , 2007, American journal of human genetics.
[52] I. Scheffer,et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. , 2007, Brain : a journal of neurology.
[53] Melissa J Corey,et al. Characterization of N‐glycosylation consensus sequences in the Kv3.1 channel , 2006, The FEBS journal.
[54] Dagmar Nolte,et al. Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes , 2006, Nature Genetics.
[55] N. Delanty,et al. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects , 2005, The Lancet Neurology.
[56] S. Scherer,et al. Mutations in NHLRC1 cause progressive myoclonus epilepsy , 2003, Nature Genetics.
[57] Bernard Prum,et al. Estimation of the inbreeding coefficient through use of genomic data. , 2003, American journal of human genetics.
[58] Alan F. Scott,et al. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders , 2002, Nucleic Acids Res..
[59] B. Ghetti,et al. Association between conformational mutations in neuroserpin and onset and severity of dementia , 2002, The Lancet.
[60] Tom H. Pringle,et al. The human genome browser at UCSC. , 2002, Genome research.
[61] N. Heintz,et al. Alcohol Hypersensitivity, Increased Locomotion, and Spontaneous Myoclonus in Mice Lacking the Potassium Channels Kv3.1 and Kv3.3 , 2001, The Journal of Neuroscience.
[62] Bernardo Rudy,et al. Kv3 channels: voltage-gated K+ channels designed for high-frequency repetitive firing , 2001, Trends in Neurosciences.
[63] L. Lagae,et al. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. , 2001, American journal of human genetics.
[64] Francisco Bezanilla,et al. Histidine Scanning Mutagenesis of Basic Residues of the S4 Segment of the Shaker K+ Channel , 2001, The Journal of general physiology.
[65] K. Lukong,et al. Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. , 2000, Human molecular genetics.
[66] A. Erisir,et al. Function of specific K(+) channels in sustained high-frequency firing of fast-spiking neocortical interneurons. , 1999, Journal of neurophysiology.
[67] G. Marks,et al. Increased γ- and Decreased δ-Oscillations in a Mouse Deficient for a Potassium Channel Expressed in Fast-Spiking Interneurons , 1999 .
[68] G. Benson,et al. Tandem repeats finder: a program to analyze DNA sequences. , 1999, Nucleic acids research.
[69] L. Gan,et al. When, where, and how much? Expression of the Kv3.1 potassium channel in high-frequency firing neurons. , 1998, Journal of neurobiology.
[70] W G Regehr,et al. Control of Neurotransmitter Release by Presynaptic Waveform at the Granule Cell to Purkinje Cell Synapse , 1997, The Journal of Neuroscience.
[71] R. Grange,et al. Pleiotropic effects of a disrupted K+ channel gene: reduced body weight, impaired motor skill and muscle contraction, but no seizures. , 1997, Proceedings of the National Academy of Sciences of the United States of America.
[72] M. Fornerod,et al. Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. , 1996, Genes & development.
[73] Roderick MacKinnon,et al. Contribution of the S4 Segment to Gating Charge in the Shaker K+ Channel , 1996, Neuron.
[74] Francisco Bezanilla,et al. Voltage-Sensing Residues in the S2 and S4 Segments of the Shaker K+ Channel , 1996, Neuron.
[75] Len A. Pennacchio,et al. Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1) , 1996, Science.
[76] B. Rudy,et al. Localization of a highly conserved human potassium channel gene (NGK2-KV4; KCNC1) to chromosome 11p15. , 1993, Genomics.
[77] D. Wallace,et al. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation , 1990, Cell.
[78] Jurg Ott,et al. Linkage of a prion protein missense variant to Gerstmann–Sträussler syndrome , 1989, Nature.
[79] F. Andermann,et al. Progressive myoclonus epilepsies: specific causes and diagnosis. , 1986, The New England journal of medicine.