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...

Full description

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

Similar Items

Complex CDKL5 translational regulation and its potential role in CDKL5 deficiency disorder
by: Valeria Ruggiero, et al.
Published: (2023-10-01)

Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders
by: Yumei Yan, et al.
Published: (2020-02-01)

CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy
by: Martyna Jakimiec, et al.
Published: (2020-02-01)

Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder
by: Nicole J. Van Bergen, et al.
Published: (2021-07-01)

A New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report
by: Soudeh Ghafouri-Fard, et al.
Published: (2016-02-01)

Modelling hCDKL5 Heterologous Expression in Bacteria
by: Marco Fondi, et al.
Published: (2021-07-01)

Inhibition of microglia overactivation restores neuronal survival in a mouse model of CDKL5 deficiency disorder
by: Giuseppe Galvani, et al.
Published: (2021-07-01)

Curcumol Exerts Anticancer Effect in Cholangiocarcinoma Cells via Down-Regulating CDKL3
by: Jinduo Zhang, et al.
Published: (2018-03-01)

Heterogeneidad clínica y molecular en los trastornos asociados con CDKL5
by: José J. Vázquez-Montante, et al.
Published: (2023-01-01)

Efficacy of ketogenic diet in CDKL5-related epilepsy: a single arm meta-analysis
by: Jie Zhang, et al.
Published: (2022-10-01)

CDKL5 Deficiency Disorder (CDD)—Rare Presentation in Male
by: Małgorzata Rodak, et al.
Published: (2022-11-01)

Novel preclinical model for CDKL5 deficiency disorder
by: Rita J. Serrano, et al.
Published: (2022-03-01)

Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder
by: Heather E. Olson, et al.
Published: (2021-09-01)

Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutations
by: E. L. Dadali, et al.
Published: (2020-01-01)

Gut microbiota profile in CDKL5 deficiency disorder patients
by: Elisa Borghi, et al.
Published: (2024-03-01)

<it>CDKL5</it> gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain
by: Maortua Hiart, et al.
Published: (2012-08-01)

Characterization of the Relationship of CDKL5 with MeCP2 and Dnmt1 in PrimaryRat Cortical Neurons
by: Zhi Yi, et al.

International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder
by: Sam Amin, et al.
Published: (2022-06-01)

CDKL Family Kinases Have Evolved Distinct Structural Features and Ciliary Function
by: Peter Canning, et al.
Published: (2018-01-01)

Discovery and characterization of a specific inhibitor of serine-threonine kinase cyclin-dependent kinase-like 5 (CDKL5) demonstrates role in hippocampal CA1 physiology
by: Anna Castano, et al.
Published: (2023-07-01)

The green tea polyphenol epigallocatechin-3-gallate (EGCG) restores CDKL5-dependent synaptic defects in vitro and in vivo
by: L. Trovò, et al.
Published: (2020-05-01)

Improving the classification of cardinality phenotypes using collections
by: Sarah M. Alghamdi, et al.
Published: (2023-08-01)

CDKL5 controls postsynaptic localization of GluN2B-containing NMDA receptors in the hippocampus and regulates seizure susceptibility
by: Kosuke Okuda, et al.
Published: (2017-10-01)

Cortical Visual Impairment in CDKL5 Deficiency Disorder
by: Michela Quintiliani, et al.
Published: (2022-01-01)

Luteolin Treatment Ameliorates Brain Development and Behavioral Performance in a Mouse Model of CDKL5 Deficiency Disorder
by: Marianna Tassinari, et al.
Published: (2022-08-01)

Loss of CDKL5 Causes Synaptic GABAergic Defects That Can Be Restored with the Neuroactive Steroid Pregnenolone-Methyl-Ether
by: Roberta De Rosa, et al.
Published: (2022-12-01)

Early-onset brain alterations during postnatal development in a mouse model of CDKL5 deficiency disorder
by: Marianna Tassinari, et al.
Published: (2023-06-01)

A GABAB receptor antagonist rescues functional and structural impairments in the perirhinal cortex of a mouse model of CDKL5 deficiency disorder
by: Laura Gennaccaro, et al.
Published: (2021-06-01)

Cardiac Functional and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder
by: Manuela Loi, et al.
Published: (2023-03-01)

Decreased CDKL2 Expression in Clear Cell Renal Cell Carcinoma Predicts Worse Overall Survival
by: Zhan Chen, et al.
Published: (2022-01-01)

CDKL1 potentiates the antitumor efficacy of radioimmunotherapy by binding to transcription factor YBX1 and blocking PD-L1 expression in lung cancer
by: Zixuan Li, et al.
Published: (2024-03-01)

A case report of X-linked CDKL5 gene variant in monozygotic twins associated with developmental and epileptic encephalopathy-2
by: Aayushi Gupta, et al.
Published: (2024-02-01)

Inhibition of GSK3β rescues hippocampal development and learning in a mouse model of CDKL5 disorder
by: Claudia Fuchs, et al.
Published: (2015-10-01)

Phenotype inference in an Escherichia coli strain panel
by: Marco Galardini, et al.
Published: (2017-12-01)

X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder
by: Barbara Terzic, et al.
Published: (2021-01-01)

Pharmacogenetic profiles of young danish individuals with and without severe mental disorders
by: C. Lunenburg, et al.
Published: (2021-04-01)

Phenotype-genotype correlation in β-thalassemia
by: R. Galanello, et al.
Published: (2011-12-01)

Les fréquences phénotypiques et génotypiques des systèmes ABO et Rh dans la population marocaine : expérience du Service de Transfusion de l´Hôpital Militaire Avicenne, Marrakech
by: Boufrioua El Ghali, et al.
Published: (2020-04-01)

Genotype–phenotype associations in PPGLs in 59 patients with variants in SDHX genes
by: Ailsa Maria Main, et al.
Published: (2020-09-01)

Comprehensive In Silico Functional Prediction Analysis of CDKL5 by Single Amino Acid Substitution in the Catalytic Domain
by: Yuri Yoshimura, et al.
Published: (2022-10-01)