Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder

Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder

Purpose: CDKL5 deficiency disorder (CDD) is a developmental and epileptic encephalopathy with multisystemic comorbidities. Cardiovascular involvement in CDD was shown in animal models but is yet poorly described in CDD cohorts. Methods: We identified 38 individuals with genetically confirmed CDD thr...

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Bibliographic Details
Main Authors: Alina Ivaniuk, Christian M. Boßelmann, Xiaoming Zhang, Mark St. John, Sara C. Taylor, Gokul Krishnaswamy, Alex Milinovich, Peter F. Aziz, Elia Pestana-Knight, Dennis Lal
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Genetics in Medicine Open
Subjects:
CDKL5 deficiency disorder
Electronic health records
Genotype-phenotype correlation
Natural language processing
Phenotyping
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774423008518

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http://www.sciencedirect.com/science/article/pii/S2949774423008518

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