Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
Identification of Genetic Variants in Status Epilepticus Associated With Fever.
Hanafusa H et al.
Brain and Behavior, 2025
Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.
MacKay CI et al.
Clinical Genetics, 2021
Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.
Zhang Q et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30405208 (PubMed )
Supplement: 41436_2018_348_MOESM3_ESM.xlsx › Sheet1
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A et al.
Frontiers in Neuroscience, 2019
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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