Associated Papers
Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing.
Zhao X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.
Zou D et al.
Brain : a Journal of Neurology, 2021
34145886 (PubMed )
Supplement: awab233_supplementary_data.pdf
Protocadherin 19 Clustering Epilepsy and Neurosteroids: Opportunities for Intervention.
de Nys R et al.
International Journal of Molecular Sciences, 2021
34575929 (PubMed )
Supplement: ijms-22-09769-s001.zip › ijms-1359787-supplementary.xlsx › Supplimentary_References
Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy.
Shibata M et al.
Journal of Human Genetics, 2021
33262389 (PubMed )
Supplement: 10038_2020_880_MOESM4_ESM.xlsx › Supplemental_Table_2
A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole-exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome.
Zhao X et al.
Molecular Genetics & Genomic Medicine, 2020
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