PubMed:19779499 JSONTXT

{"project":"LitCoin-sentences","denotations":[{"id":"T1","span":{"begin":0,"end":107},"obj":"Sentence"},{"id":"T2","span":{"begin":108,"end":302},"obj":"Sentence"},{"id":"T3","span":{"begin":303,"end":524},"obj":"Sentence"},{"id":"T4","span":{"begin":525,"end":635},"obj":"Sentence"},{"id":"T5","span":{"begin":636,"end":746},"obj":"Sentence"},{"id":"T6","span":{"begin":747,"end":816},"obj":"Sentence"},{"id":"T7","span":{"begin":817,"end":961},"obj":"Sentence"},{"id":"T8","span":{"begin":962,"end":1152},"obj":"Sentence"},{"id":"T9","span":{"begin":1153,"end":1270},"obj":"Sentence"}],"text":"Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.\nHypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel alpha-subunit with four transmembrane domains (I-IV), each with six transmembrane segments (S1-S6). To date, all CACNA1S mutations identified in HypoPP patients are located within the voltage-sensor S4 segment. In this study we report a novel CACNA1S mutation in a new region of the protein, the S3 segment of domain III. We characterized a four-generation South American family with HypoPP. Genetic analysis identified a novel V876E mutation in all HypoPP patients in the family, but not in normal family members or 160 control people. Clinical analysis indicates that mutation V876E is associated with a severe outcome as characterized by a very early age of onset, complete penetrance and a severe prognosis including death. These results identify a new mutation in CACNA1S and expand the spectrum of CACNA1S mutations associated with HypoPP."}

{"project":"LitCoin-entities","denotations":[{"id":"6493","span":{"begin":6,"end":13},"obj":"GeneOrGeneProduct"},{"id":"6494","span":{"begin":49,"end":79},"obj":"DiseaseOrPhenotypicFeature"},{"id":"6495","span":{"begin":108,"end":139},"obj":"DiseaseOrPhenotypicFeature"},{"id":"6496","span":{"begin":141,"end":147},"obj":"DiseaseOrPhenotypicFeature"},{"id":"6497","span":{"begin":155,"end":182},"obj":"DiseaseOrPhenotypicFeature"},{"id":"6498","span":{"begin":230,"end":245},"obj":"DiseaseOrPhenotypicFeature"},{"id":"6499","span":{"begin":286,"end":295},"obj":"ChemicalEntity"},{"id":"6500","span":{"begin":336,"end":342},"obj":"DiseaseOrPhenotypicFeature"},{"id":"6501","span":{"begin":366,"end":373},"obj":"GeneOrGeneProduct"},{"id":"6502","span":{"begin":393,"end":438},"obj":"GeneOrGeneProduct"},{"id":"6503","span":{"begin":538,"end":545},"obj":"GeneOrGeneProduct"},{"id":"6504","span":{"begin":570,"end":576},"obj":"DiseaseOrPhenotypicFeature"},{"id":"6505","span":{"begin":577,"end":585},"obj":"OrganismTaxon"},{"id":"6506","span":{"begin":668,"end":675},"obj":"GeneOrGeneProduct"},{"id":"6507","span":{"begin":809,"end":815},"obj":"DiseaseOrPhenotypicFeature"},{"id":"6508","span":{"begin":853,"end":858},"obj":"SequenceVariant"},{"id":"6509","span":{"begin":875,"end":881},"obj":"DiseaseOrPhenotypicFeature"},{"id":"6510","span":{"begin":882,"end":890},"obj":"OrganismTaxon"},{"id":"6511","span":{"begin":1004,"end":1009},"obj":"SequenceVariant"},{"id":"6512","span":{"begin":1146,"end":1151},"obj":"DiseaseOrPhenotypicFeature"},{"id":"6513","span":{"begin":1194,"end":1201},"obj":"GeneOrGeneProduct"},{"id":"6514","span":{"begin":1229,"end":1236},"obj":"GeneOrGeneProduct"},{"id":"6515","span":{"begin":1263,"end":1269},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A13","pred":"db_id","subj":"6505","obj":"NCBITaxon:9606"},{"id":"A11","pred":"db_id","subj":"6503","obj":"NCBIGene:779"},{"id":"A2","pred":"db_id","subj":"6494","obj":"MESH:D020514"},{"id":"A22","pred":"db_id","subj":"6514","obj":"NCBIGene:779"},{"id":"A21","pred":"db_id","subj":"6513","obj":"NCBIGene:779"},{"id":"A10","pred":"db_id","subj":"6502","obj":"NCBIGene:779"},{"id":"A12","pred":"db_id","subj":"6504","obj":"MESH:D020514"},{"id":"A20","pred":"db_id","subj":"6512","obj":"MESH:D003643"},{"id":"A15","pred":"db_id","subj":"6507","obj":"MESH:D020514"},{"id":"A14","pred":"db_id","subj":"6506","obj":"NCBIGene:779"},{"id":"A19","pred":"db_id","subj":"6511","obj":"DBSNP:rs267606698"},{"id":"A23","pred":"db_id","subj":"6515","obj":"MESH:D020514"},{"id":"A4","pred":"db_id","subj":"6496","obj":"MESH:D020514"},{"id":"A8","pred":"db_id","subj":"6500","obj":"MESH:D020514"},{"id":"A17","pred":"db_id","subj":"6509","obj":"MESH:D020514"},{"id":"A16","pred":"db_id","subj":"6508","obj":"DBSNP:rs267606698"},{"id":"A9","pred":"db_id","subj":"6501","obj":"NCBIGene:779"},{"id":"A6","pred":"db_id","subj":"6498","obj":"MESH:D018908"},{"id":"A1","pred":"db_id","subj":"6493","obj":"NCBIGene:779"},{"id":"A18","pred":"db_id","subj":"6510","obj":"NCBITaxon:9606"},{"id":"A3","pred":"db_id","subj":"6495","obj":"MESH:D020514"},{"id":"A5","pred":"db_id","subj":"6497","obj":"MESH:D030342"},{"id":"A7","pred":"db_id","subj":"6499","obj":"MESH:D011188"}],"namespaces":[{"prefix":"_base","uri":"https://w3id.org/biolink/vocab/"},{"prefix":"MESH","uri":"http://id.nlm.nih.gov/mesh/"},{"prefix":"NCBITaxon","uri":"https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id="},{"prefix":"NCBIGene","uri":"https://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"OMIM","uri":"https://www.omim.org/entry/"},{"prefix":"DBSNP","uri":"https://www.ncbi.nlm.nih.gov/snp/"}],"text":"Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.\nHypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel alpha-subunit with four transmembrane domains (I-IV), each with six transmembrane segments (S1-S6). To date, all CACNA1S mutations identified in HypoPP patients are located within the voltage-sensor S4 segment. In this study we report a novel CACNA1S mutation in a new region of the protein, the S3 segment of domain III. We characterized a four-generation South American family with HypoPP. Genetic analysis identified a novel V876E mutation in all HypoPP patients in the family, but not in normal family members or 160 control people. Clinical analysis indicates that mutation V876E is associated with a severe outcome as characterized by a very early age of onset, complete penetrance and a severe prognosis including death. These results identify a new mutation in CACNA1S and expand the spectrum of CACNA1S mutations associated with HypoPP."}

{"project":"LitCoin_Mondo","denotations":[{"id":"T1","span":{"begin":49,"end":79},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":61,"end":79},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":121,"end":139},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":1093,"end":1101},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0008223"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0016122"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0016122"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0700063"}],"text":"Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.\nHypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel alpha-subunit with four transmembrane domains (I-IV), each with six transmembrane segments (S1-S6). To date, all CACNA1S mutations identified in HypoPP patients are located within the voltage-sensor S4 segment. In this study we report a novel CACNA1S mutation in a new region of the protein, the S3 segment of domain III. We characterized a four-generation South American family with HypoPP. Genetic analysis identified a novel V876E mutation in all HypoPP patients in the family, but not in normal family members or 160 control people. Clinical analysis indicates that mutation V876E is associated with a severe outcome as characterized by a very early age of onset, complete penetrance and a severe prognosis including death. These results identify a new mutation in CACNA1S and expand the spectrum of CACNA1S mutations associated with HypoPP."}

{"project":"LitCoin-SeqVar","denotations":[{"id":"T1","span":{"begin":853,"end":858},"obj":"SequenceVariant"},{"id":"T2","span":{"begin":1004,"end":1009},"obj":"SequenceVariant"}],"text":"Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.\nHypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel alpha-subunit with four transmembrane domains (I-IV), each with six transmembrane segments (S1-S6). To date, all CACNA1S mutations identified in HypoPP patients are located within the voltage-sensor S4 segment. In this study we report a novel CACNA1S mutation in a new region of the protein, the S3 segment of domain III. We characterized a four-generation South American family with HypoPP. Genetic analysis identified a novel V876E mutation in all HypoPP patients in the family, but not in normal family members or 160 control people. Clinical analysis indicates that mutation V876E is associated with a severe outcome as characterized by a very early age of onset, complete penetrance and a severe prognosis including death. These results identify a new mutation in CACNA1S and expand the spectrum of CACNA1S mutations associated with HypoPP."}

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{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T1","span":{"begin":0,"end":5},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":6,"end":13},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":141,"end":147},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":230,"end":236},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":286,"end":301},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":305,"end":310},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":336,"end":342},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":366,"end":373},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":393,"end":408},"obj":"GeneOrGeneProduct"},{"id":"T10","span":{"begin":409,"end":424},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":425,"end":438},"obj":"GeneOrGeneProduct"},{"id":"T12","span":{"begin":449,"end":462},"obj":"GeneOrGeneProduct"},{"id":"T13","span":{"begin":493,"end":506},"obj":"GeneOrGeneProduct"},{"id":"T14","span":{"begin":538,"end":545},"obj":"GeneOrGeneProduct"},{"id":"T15","span":{"begin":570,"end":576},"obj":"GeneOrGeneProduct"},{"id":"T16","span":{"begin":662,"end":667},"obj":"GeneOrGeneProduct"},{"id":"T17","span":{"begin":668,"end":675},"obj":"GeneOrGeneProduct"},{"id":"T18","span":{"begin":708,"end":715},"obj":"GeneOrGeneProduct"},{"id":"T19","span":{"begin":809,"end":815},"obj":"GeneOrGeneProduct"},{"id":"T20","span":{"begin":847,"end":852},"obj":"GeneOrGeneProduct"},{"id":"T21","span":{"begin":875,"end":881},"obj":"GeneOrGeneProduct"},{"id":"T22","span":{"begin":1073,"end":1078},"obj":"GeneOrGeneProduct"},{"id":"T23","span":{"begin":1194,"end":1201},"obj":"GeneOrGeneProduct"},{"id":"T24","span":{"begin":1206,"end":1212},"obj":"GeneOrGeneProduct"},{"id":"T25","span":{"begin":1229,"end":1236},"obj":"GeneOrGeneProduct"},{"id":"T26","span":{"begin":1263,"end":1269},"obj":"GeneOrGeneProduct"}],"text":"Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.\nHypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel alpha-subunit with four transmembrane domains (I-IV), each with six transmembrane segments (S1-S6). To date, all CACNA1S mutations identified in HypoPP patients are located within the voltage-sensor S4 segment. In this study we report a novel CACNA1S mutation in a new region of the protein, the S3 segment of domain III. We characterized a four-generation South American family with HypoPP. Genetic analysis identified a novel V876E mutation in all HypoPP patients in the family, but not in normal family members or 160 control people. Clinical analysis indicates that mutation V876E is associated with a severe outcome as characterized by a very early age of onset, complete penetrance and a severe prognosis including death. These results identify a new mutation in CACNA1S and expand the spectrum of CACNA1S mutations associated with HypoPP."}

{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T1","span":{"begin":49,"end":79},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":130,"end":139},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":141,"end":147},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":155,"end":182},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":230,"end":245},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":311,"end":318},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":336,"end":342},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":570,"end":576},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":809,"end":815},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T10","span":{"begin":875,"end":881},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T11","span":{"begin":1146,"end":1151},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T12","span":{"begin":1263,"end":1269},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A5","pred":"originalLabel","subj":"T5","obj":"D018908"},{"id":"A9","pred":"originalLabel","subj":"T9","obj":"D020514"},{"id":"A8","pred":"originalLabel","subj":"T8","obj":"D020514"},{"id":"A4","pred":"originalLabel","subj":"T4","obj":"DISEASE"},{"id":"A11","pred":"originalLabel","subj":"T11","obj":"D003643"},{"id":"A6","pred":"originalLabel","subj":"T6","obj":"D004194"},{"id":"A7","pred":"originalLabel","subj":"T7","obj":"D020514"},{"id":"A10","pred":"originalLabel","subj":"T10","obj":"D020514"},{"id":"A1","pred":"originalLabel","subj":"T1","obj":"D020514"},{"id":"A2","pred":"originalLabel","subj":"T2","obj":"D010243"},{"id":"A3","pred":"originalLabel","subj":"T3","obj":"D020514"},{"id":"A12","pred":"originalLabel","subj":"T12","obj":"D020514"}],"text":"Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.\nHypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel alpha-subunit with four transmembrane domains (I-IV), each with six transmembrane segments (S1-S6). To date, all CACNA1S mutations identified in HypoPP patients are located within the voltage-sensor S4 segment. In this study we report a novel CACNA1S mutation in a new region of the protein, the S3 segment of domain III. We characterized a four-generation South American family with HypoPP. Genetic analysis identified a novel V876E mutation in all HypoPP patients in the family, but not in normal family members or 160 control people. Clinical analysis indicates that mutation V876E is associated with a severe outcome as characterized by a very early age of onset, complete penetrance and a severe prognosis including death. These results identify a new mutation in CACNA1S and expand the spectrum of CACNA1S mutations associated with HypoPP."}

{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T1","span":{"begin":6,"end":13},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":366,"end":373},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":409,"end":424},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":425,"end":438},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":449,"end":470},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":538,"end":545},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":668,"end":675},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":1194,"end":1201},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":1229,"end":1236},"obj":"GeneOrGeneProduct"}],"text":"Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.\nHypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel alpha-subunit with four transmembrane domains (I-IV), each with six transmembrane segments (S1-S6). To date, all CACNA1S mutations identified in HypoPP patients are located within the voltage-sensor S4 segment. In this study we report a novel CACNA1S mutation in a new region of the protein, the S3 segment of domain III. We characterized a four-generation South American family with HypoPP. Genetic analysis identified a novel V876E mutation in all HypoPP patients in the family, but not in normal family members or 160 control people. Clinical analysis indicates that mutation V876E is associated with a severe outcome as characterized by a very early age of onset, complete penetrance and a severe prognosis including death. These results identify a new mutation in CACNA1S and expand the spectrum of CACNA1S mutations associated with HypoPP."}

{"project":"LitCoin_Mondo_095","denotations":[{"id":"T1","span":{"begin":49,"end":79},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":121,"end":139},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":141,"end":147},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":336,"end":342},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":570,"end":576},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":809,"end":815},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":875,"end":881},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":1263,"end":1269},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0008223"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0008223"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0008223"},{"id":"A8","pred":"mondo_id","subj":"T8","obj":"0008223"},{"id":"A6","pred":"mondo_id","subj":"T6","obj":"0008223"},{"id":"A7","pred":"mondo_id","subj":"T7","obj":"0008223"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0008223"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0016122"}],"text":"Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.\nHypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel alpha-subunit with four transmembrane domains (I-IV), each with six transmembrane segments (S1-S6). To date, all CACNA1S mutations identified in HypoPP patients are located within the voltage-sensor S4 segment. In this study we report a novel CACNA1S mutation in a new region of the protein, the S3 segment of domain III. We characterized a four-generation South American family with HypoPP. Genetic analysis identified a novel V876E mutation in all HypoPP patients in the family, but not in normal family members or 160 control people. Clinical analysis indicates that mutation V876E is associated with a severe outcome as characterized by a very early age of onset, complete penetrance and a severe prognosis including death. These results identify a new mutation in CACNA1S and expand the spectrum of CACNA1S mutations associated with HypoPP."}

{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T1","span":{"begin":49,"end":79},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":108,"end":139},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":141,"end":147},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":155,"end":182},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":230,"end":245},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":311,"end":318},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":336,"end":342},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T10","span":{"begin":570,"end":576},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T12","span":{"begin":809,"end":815},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T14","span":{"begin":875,"end":881},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T16","span":{"begin":1146,"end":1151},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T17","span":{"begin":1263,"end":1269},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A5","pred":"ID:","subj":"T5","obj":"DISEASE"},{"id":"A6","pred":"ID:","subj":"T6","obj":"D018908"},{"id":"A10","pred":"ID:","subj":"T10","obj":"D020514"},{"id":"A11","pred":"ID:","subj":"T10","obj":"DISEASE"},{"id":"A2","pred":"ID:","subj":"T2","obj":"DISEASE"},{"id":"A1","pred":"ID:","subj":"T1","obj":"D020514"},{"id":"A14","pred":"ID:","subj":"T14","obj":"D020514"},{"id":"A15","pred":"ID:","subj":"T14","obj":"DISEASE"},{"id":"A8","pred":"ID:","subj":"T8","obj":"D020514"},{"id":"A9","pred":"ID:","subj":"T8","obj":"DISEASE"},{"id":"A16","pred":"ID:","subj":"T16","obj":"D003643"},{"id":"A7","pred":"ID:","subj":"T7","obj":"D004194"},{"id":"A3","pred":"ID:","subj":"T3","obj":"D020514"},{"id":"A4","pred":"ID:","subj":"T3","obj":"DISEASE"},{"id":"A12","pred":"ID:","subj":"T12","obj":"D020514"},{"id":"A13","pred":"ID:","subj":"T12","obj":"DISEASE"},{"id":"A17","pred":"ID:","subj":"T17","obj":"D020514"},{"id":"A18","pred":"ID:","subj":"T17","obj":"DISEASE"}],"text":"Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.\nHypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel alpha-subunit with four transmembrane domains (I-IV), each with six transmembrane segments (S1-S6). To date, all CACNA1S mutations identified in HypoPP patients are located within the voltage-sensor S4 segment. In this study we report a novel CACNA1S mutation in a new region of the protein, the S3 segment of domain III. We characterized a four-generation South American family with HypoPP. Genetic analysis identified a novel V876E mutation in all HypoPP patients in the family, but not in normal family members or 160 control people. Clinical analysis indicates that mutation V876E is associated with a severe outcome as characterized by a very early age of onset, complete penetrance and a severe prognosis including death. These results identify a new mutation in CACNA1S and expand the spectrum of CACNA1S mutations associated with HypoPP."}

{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T1","span":{"begin":49,"end":79},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":108,"end":139},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":141,"end":147},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":155,"end":182},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":230,"end":245},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":336,"end":342},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":570,"end":576},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T11","span":{"begin":809,"end":815},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T13","span":{"begin":875,"end":881},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T15","span":{"begin":1263,"end":1269},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A3","pred":"#label","subj":"T3","obj":"D020514"},{"id":"A4","pred":"#label","subj":"T3","obj":"DISEASE"},{"id":"A9","pred":"#label","subj":"T9","obj":"D020514"},{"id":"A10","pred":"#label","subj":"T9","obj":"DISEASE"},{"id":"A2","pred":"#label","subj":"T2","obj":"DISEASE"},{"id":"A6","pred":"#label","subj":"T6","obj":"D018908"},{"id":"A13","pred":"#label","subj":"T13","obj":"D020514"},{"id":"A14","pred":"#label","subj":"T13","obj":"DISEASE"},{"id":"A1","pred":"#label","subj":"T1","obj":"D020514"},{"id":"A11","pred":"#label","subj":"T11","obj":"D020514"},{"id":"A12","pred":"#label","subj":"T11","obj":"DISEASE"},{"id":"A7","pred":"#label","subj":"T7","obj":"D020514"},{"id":"A8","pred":"#label","subj":"T7","obj":"DISEASE"},{"id":"A15","pred":"#label","subj":"T15","obj":"D020514"},{"id":"A16","pred":"#label","subj":"T15","obj":"DISEASE"},{"id":"A5","pred":"#label","subj":"T5","obj":"DISEASE"}],"text":"Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.\nHypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel alpha-subunit with four transmembrane domains (I-IV), each with six transmembrane segments (S1-S6). To date, all CACNA1S mutations identified in HypoPP patients are located within the voltage-sensor S4 segment. In this study we report a novel CACNA1S mutation in a new region of the protein, the S3 segment of domain III. We characterized a four-generation South American family with HypoPP. Genetic analysis identified a novel V876E mutation in all HypoPP patients in the family, but not in normal family members or 160 control people. Clinical analysis indicates that mutation V876E is associated with a severe outcome as characterized by a very early age of onset, complete penetrance and a severe prognosis including death. These results identify a new mutation in CACNA1S and expand the spectrum of CACNA1S mutations associated with HypoPP."}

{"project":"LitCoin-Chemical-MeSH-CHEBI","denotations":[{"id":"T1","span":{"begin":286,"end":295},"obj":"ChemicalEntity"},{"id":"T3","span":{"begin":409,"end":416},"obj":"ChemicalEntity"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"D011188"},{"id":"A2","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_26216"},{"id":"A3","pred":"ID:","subj":"T3","obj":"D002118"},{"id":"A4","pred":"ID:","subj":"T3","obj":"http://purl.obolibrary.org/obo/CHEBI_29320"},{"id":"A5","pred":"ID:","subj":"T3","obj":"http://purl.obolibrary.org/obo/CHEBI_22984"}],"text":"Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.\nHypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel alpha-subunit with four transmembrane domains (I-IV), each with six transmembrane segments (S1-S6). To date, all CACNA1S mutations identified in HypoPP patients are located within the voltage-sensor S4 segment. In this study we report a novel CACNA1S mutation in a new region of the protein, the S3 segment of domain III. We characterized a four-generation South American family with HypoPP. Genetic analysis identified a novel V876E mutation in all HypoPP patients in the family, but not in normal family members or 160 control people. Clinical analysis indicates that mutation V876E is associated with a severe outcome as characterized by a very early age of onset, complete penetrance and a severe prognosis including death. These results identify a new mutation in CACNA1S and expand the spectrum of CACNA1S mutations associated with HypoPP."}

{"project":"LitCoin-NCBITaxon-2","denotations":[{"id":"T1","span":{"begin":577,"end":585},"obj":"OrganismTaxon"},{"id":"T2","span":{"begin":882,"end":890},"obj":"OrganismTaxon"}],"text":"Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.\nHypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel alpha-subunit with four transmembrane domains (I-IV), each with six transmembrane segments (S1-S6). To date, all CACNA1S mutations identified in HypoPP patients are located within the voltage-sensor S4 segment. In this study we report a novel CACNA1S mutation in a new region of the protein, the S3 segment of domain III. We characterized a four-generation South American family with HypoPP. Genetic analysis identified a novel V876E mutation in all HypoPP patients in the family, but not in normal family members or 160 control people. Clinical analysis indicates that mutation V876E is associated with a severe outcome as characterized by a very early age of onset, complete penetrance and a severe prognosis including death. These results identify a new mutation in CACNA1S and expand the spectrum of CACNA1S mutations associated with HypoPP."}

{"project":"LitCoin-training-merged","denotations":[{"id":"T3","span":{"begin":409,"end":416},"obj":"ChemicalEntity"},{"id":"T1","span":{"begin":286,"end":295},"obj":"ChemicalEntity"},{"id":"T9","span":{"begin":1229,"end":1236},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":1194,"end":1201},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":668,"end":675},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":538,"end":545},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":449,"end":470},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":425,"end":438},"obj":"GeneOrGeneProduct"},{"id":"T52863","span":{"begin":409,"end":424},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":366,"end":373},"obj":"GeneOrGeneProduct"},{"id":"T49742","span":{"begin":6,"end":13},"obj":"GeneOrGeneProduct"},{"id":"T15","span":{"begin":1263,"end":1269},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T13","span":{"begin":875,"end":881},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T11","span":{"begin":809,"end":815},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T15464","span":{"begin":570,"end":576},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8935","span":{"begin":336,"end":342},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T93036","span":{"begin":230,"end":245},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T45610","span":{"begin":155,"end":182},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T31544","span":{"begin":141,"end":147},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T32264","span":{"begin":108,"end":139},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T56290","span":{"begin":49,"end":79},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T87225","span":{"begin":882,"end":890},"obj":"OrganismTaxon"},{"id":"T48913","span":{"begin":577,"end":585},"obj":"OrganismTaxon"},{"id":"T73961","span":{"begin":1004,"end":1009},"obj":"SequenceVariant"},{"id":"T41312","span":{"begin":853,"end":858},"obj":"SequenceVariant"}],"attributes":[{"id":"A88187","pred":"#label","subj":"T31544","obj":"DISEASE"},{"id":"A13778","pred":"#label","subj":"T31544","obj":"D020514"},{"id":"A10","pred":"#label","subj":"T15464","obj":"DISEASE"},{"id":"A9","pred":"#label","subj":"T15464","obj":"D020514"},{"id":"A14","pred":"#label","subj":"T13","obj":"DISEASE"},{"id":"A13","pred":"#label","subj":"T13","obj":"D020514"},{"id":"A16","pred":"#label","subj":"T15","obj":"DISEASE"},{"id":"A15","pred":"#label","subj":"T15","obj":"D020514"},{"id":"A2","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_26216"},{"id":"A1","pred":"ID:","subj":"T1","obj":"D011188"},{"id":"A20005","pred":"#label","subj":"T45610","obj":"DISEASE"},{"id":"A69369","pred":"#label","subj":"T32264","obj":"DISEASE"},{"id":"A8","pred":"#label","subj":"T8935","obj":"DISEASE"},{"id":"A7","pred":"#label","subj":"T8935","obj":"D020514"},{"id":"A5160","pred":"#label","subj":"T56290","obj":"D020514"},{"id":"A12","pred":"#label","subj":"T11","obj":"DISEASE"},{"id":"A11","pred":"#label","subj":"T11","obj":"D020514"},{"id":"A5","pred":"ID:","subj":"T3","obj":"http://purl.obolibrary.org/obo/CHEBI_22984"},{"id":"A4","pred":"ID:","subj":"T3","obj":"http://purl.obolibrary.org/obo/CHEBI_29320"},{"id":"A3","pred":"ID:","subj":"T3","obj":"D002118"},{"id":"A6","pred":"#label","subj":"T93036","obj":"D018908"}],"text":"Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.\nHypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel alpha-subunit with four transmembrane domains (I-IV), each with six transmembrane segments (S1-S6). To date, all CACNA1S mutations identified in HypoPP patients are located within the voltage-sensor S4 segment. In this study we report a novel CACNA1S mutation in a new region of the protein, the S3 segment of domain III. We characterized a four-generation South American family with HypoPP. Genetic analysis identified a novel V876E mutation in all HypoPP patients in the family, but not in normal family members or 160 control people. Clinical analysis indicates that mutation V876E is associated with a severe outcome as characterized by a very early age of onset, complete penetrance and a severe prognosis including death. These results identify a new mutation in CACNA1S and expand the spectrum of CACNA1S mutations associated with HypoPP."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":6,"end":13},"obj":"gene:779"},{"id":"T1","span":{"begin":49,"end":79},"obj":"disease:C0238358"},{"id":"T2","span":{"begin":6,"end":13},"obj":"gene:779"},{"id":"T3","span":{"begin":49,"end":79},"obj":"disease:C3714580"},{"id":"T4","span":{"begin":366,"end":373},"obj":"gene:779"},{"id":"T5","span":{"begin":336,"end":342},"obj":"disease:C0238358"},{"id":"T6","span":{"begin":1229,"end":1236},"obj":"gene:779"},{"id":"T7","span":{"begin":1263,"end":1269},"obj":"disease:C0238358"},{"id":"T8","span":{"begin":1194,"end":1201},"obj":"gene:779"},{"id":"T9","span":{"begin":1263,"end":1269},"obj":"disease:C0238358"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.\nHypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel alpha-subunit with four transmembrane domains (I-IV), each with six transmembrane segments (S1-S6). To date, all CACNA1S mutations identified in HypoPP patients are located within the voltage-sensor S4 segment. In this study we report a novel CACNA1S mutation in a new region of the protein, the S3 segment of domain III. We characterized a four-generation South American family with HypoPP. Genetic analysis identified a novel V876E mutation in all HypoPP patients in the family, but not in normal family members or 160 control people. Clinical analysis indicates that mutation V876E is associated with a severe outcome as characterized by a very early age of onset, complete penetrance and a severe prognosis including death. These results identify a new mutation in CACNA1S and expand the spectrum of CACNA1S mutations associated with HypoPP."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"19779499-0#6#13#gene779","span":{"begin":6,"end":13},"obj":"gene779"},{"id":"19779499-0#49#79#diseaseC0238358","span":{"begin":49,"end":79},"obj":"diseaseC0238358"},{"id":"19779499-0#49#79#diseaseC3714580","span":{"begin":49,"end":79},"obj":"diseaseC3714580"}],"relations":[{"id":"6#13#gene77949#79#diseaseC0238358","pred":"associated_with","subj":"19779499-0#6#13#gene779","obj":"19779499-0#49#79#diseaseC0238358"},{"id":"6#13#gene77949#79#diseaseC3714580","pred":"associated_with","subj":"19779499-0#6#13#gene779","obj":"19779499-0#49#79#diseaseC3714580"}],"text":"Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.\nHypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel alpha-subunit with four transmembrane domains (I-IV), each with six transmembrane segments (S1-S6). To date, all CACNA1S mutations identified in HypoPP patients are located within the voltage-sensor S4 segment. In this study we report a novel CACNA1S mutation in a new region of the protein, the S3 segment of domain III. We characterized a four-generation South American family with HypoPP. Genetic analysis identified a novel V876E mutation in all HypoPP patients in the family, but not in normal family members or 160 control people. Clinical analysis indicates that mutation V876E is associated with a severe outcome as characterized by a very early age of onset, complete penetrance and a severe prognosis including death. These results identify a new mutation in CACNA1S and expand the spectrum of CACNA1S mutations associated with HypoPP."}