Associated Papers
Generation of a human induced pluripotent stem cell (iPSC) line from a patient with a CDKL5 gene mutation.
Weng S et al.
Stem Cell Research, 2024
Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders.
Kim SH et al.
The Journal of Molecular Diagnostics : Jmd, 2023
CDKL5 Deficiency Disorder Without Epilepsy.
Aznar-Laín G et al.
Pediatric Neurology, 2023
Analysis of trio test in neurodevelopmental disorders.
Kim SH et al.
Frontiers in Pediatrics, 2022
Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder.
Fehr S et al.
Neurology, 2016
There is variability in the attainment of developmental milestones in the CDKL5 disorder.
Fehr S et al.
Journal of Neurodevelopmental Disorders, 2015
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