Publication Information

{'id': 'https://openalex.org/W3032167896', 'doi': 'https://doi.org/10.3760/cma.j.issn.2095-428x.2019.12.009', 'title': 'Clinical features and ion channel gene mutations analysis in 17 cases of early-onset epileptic encephalopathy', 'display_name': 'Clinical features and ion channel gene mutations analysis in 17 cases of early-onset epileptic encephalopathy', 'publication_year': 2019, 'publication_date': '2019-06-20', 'ids': {'openalex': 'https://openalex.org/W3032167896', 'doi': 'https://doi.org/10.3760/cma.j.issn.2095-428x.2019.12.009', 'mag': '3032167896'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'http://rs.yiigle.com/CN101070201912/1152393.htm', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S3012608218', 'display_name': 'Zhonghua shiyong erke linchuang zazhi', 'issn_l': '2095-428X', 'issn': ['2095-428X'], 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/P4320800525', 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'https://openalex.org/W2017050934', 'https://openalex.org/W1982086385', 'https://openalex.org/W1967983600', 'https://openalex.org/W151118185'], 'abstract_inverted_index': {'Objective\r\nTo': [0], 'analyze': [1], 'the': [2, 20, 24, 29, 48, 52, 66, 102, 105, 329], 'clinical': [3, 34, 269], 'characteristics': [4], 'and': [5, 26, 47, 54, 101, 118, 155, 179, 210, 230, 259, 278, 318], 'gene': [6, 16, 45, 73, 80, 91, 134, 141, 148, 164, 168, 172, 176, 181, 209, 279, 287], 'mutations': [7, 95, 280, 291], 'of': [8, 51, 68, 87, 104, 195, 201, 207, 214, 240, 281, 332], 'early-onset': [9], 'epileptic': [10, 157, 336], 'encephalopathy(EOEE)': [11], 'caused': [12, 41], 'by': [13, 42, 77, 98, 255, 265], 'ion': [14, 43, 89, 282], 'channel': [15, 44, 90], 'mutation,': [17, 117, 166, 170, 174], 'to': [18, 22, 27, 62, 237], 'identify': [19], 'etiology,': [21], 'guide': [23], 'treatment': [25], 'provide': [28], 'basis': [30], 'for': [31, 271, 301, 321], 'genetic': [32, 116], 'counseling.\r\n\r\n\r\nMethods\r\nThe': [33], 'data': [35], 'from': [36, 59], '17': [37, 109], 'children': [38, 53, 272], 'with': [39, 111, 220, 227, 232, 273], 'EOEE': [40, 275], 'mutation': [46, 86, 106, 136, 143, 150, 178, 183, 193, 200, 206, 213, 300, 320, 330, 339], 'peripheral': [49], 'blood': [50], 'their': [55], 'parents': [56], 'were': [57, 96, 132, 184, 190, 218, 243], 'collected': [58], 'June': [60], '2014': [61], 'May': [63], '2018': [64], 'at': [65], 'Department': [67], 'Neurology,': [69], 'Tianjin': [70], 'Children′s': [71], 'Hospital.Epilepsy': [72], 'sequencing': [74, 84, 100], 'was': [75, 92, 107, 125], 'performed': [76], 'using': [78], 'disease': [79], 'targeting': [81], 'second': [82], 'generation': [83], 'technology.The': [85], 'pathogenic': [88, 188], 'found.The': [93], 'confirmed': [94], 'verified': [97], 'Sanger': [99], 'source': [103], 'identified.\r\n\r\n\r\nResults\r\nAmong': [108], 'case': [110, 153, 303, 307, 311, 315, 323], 'EOEE,': [112], '3': [113, 145, 247, 302], 'cases': [114, 120, 129, 161, 248, 253, 263], 'had': [115, 121], '14': [119], 'denovo': [122, 290], 'mutations.Dravet': [123], 'syndrome': [124], 'found': [126, 185], 'in': [127, 137, 144, 151, 159, 186, 246, 251, 261], '8': [128, 160], '(47.1%),': [130], 'there': [131], 'SCN1A': [133, 140, 304, 324], 'missense': [135, 149, 165, 169, 173, 177, 182, 192, 199, 205, 212, 299], '5': [138, 196], 'cases,': [139, 146], 'nonsense': [142, 319], 'KCNQ2': [147, 175], '1': [152, 191, 198, 204, 211, 231, 306, 310, 314], '(5.9%)': [154], 'non-specific': [156], 'encephalopathy': [158], '(47.1%).': [162], 'SCN2A': [163, 308], 'SCN4A': [167], 'SCN8A': [171], 'KCNH': [180], 'suspected': [187], 'mutations.There': [189], 'out': [194], 'genes,': [197], 'CACNA1A': [202, 312], 'gene,': [203, 305, 309, 313, 317, 325], 'GRIN2A': [208], 'GRIN3A': [215], 'gene.Seventeen': [216], 'patients': [217], 'treated': [219], '2': [221, 322], 'or': [222], 'more': [223, 256], 'antiepileptic': [224], 'drugs,': [225], '4': [226], 'ketogenic': [228], 'diet': [229], 'vitamin': [233], 'B6': [234], 'supplementation.During': [235], '11': [236], '96': [238], 'months': [239], 'follow-up,': [241], 'seizures': [242], 'completely': [244], 'controlled': [245], '(17.6%),': [249], 'decreased': [250, 260], '7': [252, 262], '(41.2%)': [254, 264], 'than': [257, 267], '50%,': [258], 'less': [266], '50%.\r\n\r\n\r\nConclusions\r\nThe': [268], 'phenotypes': [270], 'unexplained': [274], 'are': [276, 284, 289], 'varied,': [277], 'cha-nnel': [283], 'most': [285], 'common.Some': [286], 'sites': [288], 'which': [292, 326], 'have': [293, 327], 'not': [294], 'been': [295], 'reported': [296], 'such': [297], 'as': [298], 'KCNH5': [316], 'enriched': [328], 'spectrum': [331], 'EOEE.\r\n\r\n\r\nKey': [333], 'words:': [334], '\r\nEarly-onset': [335], 'encephalopathy;\xa0Ion': [337], 'channel;\xa0Etiology;\xa0Gene': [338]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W3032167896', 'counts_by_year': [], 'updated_date': '2024-12-06T10:17:43.939394', 'created_date': '2020-06-05'}