Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W1970697084', 'doi': 'https://doi.org/10.1089/109065703321560958', 'title': 'Mutation Analysis in Congenital Long QT Syndrome—A Case with Missense Mutations in <i>KCNQ1</i> and <i>SCN5A</i>', 'display_name': 'Mutation Analysis in Congenital Long QT Syndrome—A Case with Missense Mutations in <i>KCNQ1</i> and <i>SCN5A</i>', 'publication_year': 2003, 'publication_date': '2003-03-01', 'ids': {'openalex': 'https://openalex.org/W1970697084', 'doi': 'https://doi.org/10.1089/109065703321560958', 'mag': '1970697084', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/12820704'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1089/109065703321560958', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S7851167', 'display_name': 'Genetic Testing', 'issn_l': '1090-6576', 'issn': ['1090-6576', '1557-7473'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320443', 'host_organization_name': 'Mary Ann Liebert, Inc.', 'host_organization_lineage': ['https://openalex.org/P4310320443'], 'host_organization_lineage_names': ['Mary Ann Liebert, Inc.'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': False, 'oa_status': 'closed', 'oa_url': None, 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5057619639', 'display_name': 'Aimée Paulussen', 'orcid': 'https://orcid.org/0000-0002-1661-7625'}, 'institutions': [], 'countries': ['BE'], 'is_corresponding': False, 'raw_author_name': 'Aimée Paulussen', 'raw_affiliation_strings': ['Department of Pharmacogenomics, Johnson & Johnson Pharmaceutical Research and Development, Beerse, Belgium'], 'affiliations': [{'raw_affiliation_string': 'Department of Pharmacogenomics, Johnson & Johnson Pharmaceutical Research and Development, Beerse, Belgium', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5015888784', 'display_name': 'Gert Matthijs', 'orcid': 'https://orcid.org/0000-0001-6710-1912'}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Gert Matthijs', 'raw_affiliation_strings': [], 'affiliations': []}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5025471502', 'display_name': 'Marc Gewillig', 'orcid': 'https://orcid.org/0000-0002-4595-5922'}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Marc Gewillig', 'raw_affiliation_strings': [], 'affiliations': []}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5008369661', 'display_name': 'Peter Verhasselt', 'orcid': None}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Peter Verhasselt', 'raw_affiliation_strings': [], 'affiliations': []}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5110398475', 'display_name': 'Nadine Cohen', 'orcid': 'https://orcid.org/0009-0008-9393-676X'}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Nadine Cohen', 'raw_affiliation_strings': [], 'affiliations': []}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5048949272', 'display_name': 'Jeroen Aerssens', 'orcid': 'https://orcid.org/0000-0002-9254-4800'}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Jeroen Aerssens', 'raw_affiliation_strings': [], 'affiliations': []}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 0, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 1.445, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 26, 'citation_normalized_percentile': {'value': 0.850071, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 87, 'max': 88}, 'biblio': {'volume': '7', 'issue': '1', 'first_page': '57', 'last_page': '61'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10217', 'display_name': 'Cardiac electrophysiology and arrhythmias', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/2705', 'display_name': 'Cardiology and Cardiovascular Medicine'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, 'topics': [{'id': 'https://openalex.org/T10217', 'display_name': 'Cardiac electrophysiology and arrhythmias', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/2705', 'display_name': 'Cardiology and Cardiovascular Medicine'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, {'id': 'https://openalex.org/T10493', 'display_name': 'Ion channel regulation and function', 'score': 0.9968, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T11021', 'display_name': 'ECG Monitoring and Analysis', 'score': 0.9164, 'subfield': {'id': 'https://openalex.org/subfields/2705', 'display_name': 'Cardiology and Cardiovascular Medicine'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/proband', 'display_name': 'Proband', 'score': 0.8520895}], 'concepts': [{'id': 'https://openalex.org/C75563809', 'wikidata': 'https://www.wikidata.org/wiki/Q2656896', 'display_name': 'Missense mutation', 'level': 4, 'score': 0.89510024}, {'id': 'https://openalex.org/C188997412', 'wikidata': 'https://www.wikidata.org/wiki/Q1640386', 'display_name': 'Proband', 'level': 4, 'score': 0.8520895}, {'id': 'https://openalex.org/C2779703243', 'wikidata': 'https://www.wikidata.org/wiki/Q653924', 'display_name': 'Long QT syndrome', 'level': 3, 'score': 0.8191879}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.72690463}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.58948815}, {'id': 'https://openalex.org/C118441451', 'wikidata': 'https://www.wikidata.org/wiki/Q12074763', 'display_name': 'QT interval', 'level': 2, 'score': 0.5593573}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.47034055}, {'id': 'https://openalex.org/C2781179581', 'wikidata': 'https://www.wikidata.org/wiki/Q2857712', 'display_name': 'Family history', 'level': 2, 'score': 0.43913868}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.33237496}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.29361492}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.28551435}], 'mesh': [{'descriptor_ui': 'D008133', 'descriptor_name': 'Long QT Syndrome', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D020125', 'descriptor_name': 'Mutation, Missense', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D015221', 'descriptor_name': 'Potassium Channels', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D024642', 'descriptor_name': 'Potassium Channels, Voltage-Gated', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D015222', 'descriptor_name': 'Sodium Channels', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D002648', 'descriptor_name': 'Child', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004252', 'descriptor_name': 'DNA Mutational Analysis', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006580', 'descriptor_name': 'Genetic Carrier Screening', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D051656', 'descriptor_name': 'KCNQ Potassium Channels', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D051657', 'descriptor_name': 'KCNQ1 Potassium Channel', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008133', 'descriptor_name': 'Long QT Syndrome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008297', 'descriptor_name': 'Male', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D020125', 'descriptor_name': 'Mutation, Missense', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D062554', 'descriptor_name': 'NAV1.5 Voltage-Gated Sodium Channel', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010375', 'descriptor_name': 'Pedigree', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012150', 'descriptor_name': 'Polymorphism, Restriction Fragment Length', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D015221', 'descriptor_name': 'Potassium Channels', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D015222', 'descriptor_name': 'Sodium Channels', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1089/109065703321560958', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S7851167', 'display_name': 'Genetic Testing', 'issn_l': '1090-6576', 'issn': ['1090-6576', '1557-7473'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320443', 'host_organization_name': 'Mary Ann Liebert, Inc.', 'host_organization_lineage': ['https://openalex.org/P4310320443'], 'host_organization_lineage_names': ['Mary Ann Liebert, Inc.'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/12820704', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': None, 'sustainable_development_goals': [{'id': 'https://metadata.un.org/sdg/3', 'score': 0.81, 'display_name': 'Good health and well-being'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 17, 'referenced_works': ['https://openalex.org/W116298694', 'https://openalex.org/W1968095129', 'https://openalex.org/W1979924020', 'https://openalex.org/W1991662012', 'https://openalex.org/W2003918316', 'https://openalex.org/W2008125074', 'https://openalex.org/W2019973925', 'https://openalex.org/W2043707154', 'https://openalex.org/W2084756418', 'https://openalex.org/W2091298387', 'https://openalex.org/W2092288620', 'https://openalex.org/W2093214695', 'https://openalex.org/W2121677695', 'https://openalex.org/W2129910735', 'https://openalex.org/W2137464304', 'https://openalex.org/W2471757827', 'https://openalex.org/W4237792091'], 'related_works': ['https://openalex.org/W4256550532', 'https://openalex.org/W3203595062', 'https://openalex.org/W2419467758', 'https://openalex.org/W2375386393', 'https://openalex.org/W2349400098', 'https://openalex.org/W2170784416', 'https://openalex.org/W2166203583', 'https://openalex.org/W2143652908', 'https://openalex.org/W2107469596', 'https://openalex.org/W1986404589'], 'abstract_inverted_index': {'Long': [0], 'QT': [1, 12, 194], 'Syndrome': [2], '(LQTS)': [3], 'is': [4, 49], 'a': [5, 10, 15, 46, 53, 69, 90, 116, 172, 181, 221, 249], 'cardiac': [6, 28, 42, 176], 'disease': [7], 'characterized': [8], 'by': [9, 20, 98, 102, 265], 'prolonged': [11], 'interval': [13], 'on': [14, 175], 'surface': [16], 'electrocardiogram': [17], '(ECG)': [18], 'and': [19, 27, 56, 196, 202], 'clinical': [21, 145, 212], 'symptoms': [22, 197, 214], 'such': [23, 105, 238], 'as': [24, 106], 'seizures,': [25], 'syncope,': [26], 'sudden': [29], 'death.': [30], 'At': [31], 'present,': [32], 'causal': [33, 47], 'mutations': [34, 128, 226], 'of': [35, 63, 65, 76, 81, 83, 89, 110, 119, 224, 260, 268], 'LQTS': [36, 121, 132, 146, 208, 213, 247, 262], 'have': [37], 'been': [38], 'identified': [39, 160, 270], 'in': [40, 60, 129, 139, 148, 154, 161, 189, 198, 206, 218, 272], 'five': [41, 67], 'ion-channel': [43, 177], 'genes.': [44, 85, 133], 'Because': [45, 210], 'mutation': [48, 70, 92, 117, 136, 152, 167, 250], 'usually': [50], 'unique': [51], 'to': [52, 236], 'specific': [54], 'family': [55, 99, 200, 275], 'can': [57, 93], 'be': [58, 95, 228], 'located': [59], 'any': [61, 64], 'region': [62, 259], 'these': [66, 84], 'genes,': [68, 263], 'analysis': [71, 118, 251], 'effort': [72], 'may': [73], 'require': [74], 'screening': [75], 'the': [77, 107, 111, 149, 155, 211, 219, 256, 269], 'complete': [78, 257], 'coding': [79, 258], 'regions': [80], 'each': [82], 'The': [86, 134, 185], 'causative': [87], 'nature': [88], 'detected': [91], 'then': [94], 'determined': [96], 'either': [97, 171], 'history': [100], 'or': [101, 179, 276], 'functional': [103, 232, 277], 'studies,': [104], 'electrophysiological': [108], 'signature': [109], 'mutation.': [112], 'Here': [113], 'we': [114], 'describe': [115], 'an': [120, 239, 266], 'patient': [122], 'who': [123], 'carries': [124], 'two': [125, 130, 150], 'heterozygous': [126], 'missense': [127], 'different': [131], 'first': [135], 'identified,': [137], 'A572D': [138], 'SCN5A,': [140], 'was': [141, 158, 203], 'not': [142], 'linked': [143], 'with': [144, 192, 274], 'features': [147], 'other': [151, 199], 'carriers': [153], 'family;': [156], 'neither': [157], 'it': [159], '90': [162], 'healthy': [163], 'controls.': [164], 'Therefore,': [165], 'this': [166], 'most': [168, 216], 'likely': [169], 'has': [170], 'mild': [173], 'effect': [174, 223], 'function': [178], 'represents': [180], 'very': [182], 'rare': [183], 'polymorphism.': [184], 'second': [186], 'mutation,': [187], 'V254M': [188], 'KCNQ1,': [190], 'co-segregated': [191], 'higher': [193], 'intervals': [195], 'members,': [201], 'previously': [204], 'reported': [205], 'another': [207], 'family.': [209], 'are': [215, 234], 'pronounced': [217], 'proband,': [220], 'combined': [222], 'both': [225], 'cannot': [227], 'excluded,': [229], 'although': [230], 'no': [231], 'data': [233], 'available': [235], 'support': [237], 'hypothesis.': [240], 'We': [241], 'conclude': [242], 'that,': [243], 'for': [244], 'newly': [245], 'presented': [246], 'cases,': [248], 'strategy': [252], 'should': [253], 'routinely': [254], 'screen': [255], 'all': [261], 'followed': [264], 'evaluation': [267], 'mutation(s)': [271], 'conjunction': [273], 'data.': [278]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W1970697084', 'counts_by_year': [{'year': 2019, 'cited_by_count': 2}, {'year': 2018, 'cited_by_count': 2}, {'year': 2017, 'cited_by_count': 1}, {'year': 2014, 'cited_by_count': 3}, {'year': 2013, 'cited_by_count': 1}, {'year': 2012, 'cited_by_count': 2}], 'updated_date': '2024-12-20T12:48:31.165684', 'created_date': '2016-06-24'}