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
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
Tenofovir Activation is Diminished in the Brain and Liver of Creatine Kinase Brain-Type Knockout Mice.
Eberhard CD et al.
Biorxiv : the Preprint Server for Biology, 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
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T et al.
Clinical Genetics, 2021
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