Associated Papers
The phenotypic spectrum of YWHAG-related epilepsy: From mild febrile seizures to severe developmental delay and epileptic encephalopathy.
Tan Q et al.
Developmental Medicine and Child Neurology, 2025
A Novel YWHAG Variant L173S Causes Developmental and Epileptic Encephalopathy by Disrupting the Hydrophobic Internal Protein Structure.
Jin Y et al.
Molecular Genetics & Genomic Medicine, 2025
Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature.
Amato ME et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Cetica V et al.
Epilepsia, 2024
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.
Sedlackova L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024
Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.
Burr R et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family.
Yi Z et al.
Bmc Medical Genomics, 2022
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
[Analysis of an epilepsy family with intellectual disability].
Li LS et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2021
A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy.
Sedláčková L et al.
American Journal of Medical Genetics. Part A, 2021