The phenotypic spectrum of <scp> <i>YWHAG</i> </scp> ‐related epilepsy: From mild febrile seizures to severe developmental delay and epileptic encephalopathy
Most patients with YWHAG variants were diagnosed during infancy. The most common seizure types were GTCS and myoclonic seizures. The phenotypic spectrum of epilepsy ranged from mild febrile seizures to severe developmental delay and epileptic encephalopathy. Most variants were localized in the HCT domain; variants residing outside the HCT domain were correlated with milder phenotypes.
Authors
- Ye Wu (ORCID: https://orcid.org/0000-0002-6224-0099)
- Cheng Yang (ORCID: https://orcid.org/0000-0003-4060-2746)
- Wenwei Liu (ORCID: https://orcid.org/0000-0002-1134-3194)
- Yuehua Zhang (ORCID: https://orcid.org/0000-0003-1432-5423)
- Ying Yang (ORCID: https://orcid.org/0000-0002-8149-1109)
- Siyuan Ouyang (ORCID: https://orcid.org/0009-0001-3270-8607)
- Miaomiao Cheng (ORCID: https://orcid.org/0000-0002-5088-6319)
- Ting Wang (ORCID: https://orcid.org/0000-0002-7518-6298)
- Changhao Liu (ORCID: https://orcid.org/0009-0005-8149-1351)
- Quanzhen Tan
Institutions
- Peking University (CN)
- Peking University First Hospital (CN)
Publication Details
- Journal
- Developmental Medicine & Child Neurology
- Published
- 2025-04-05
- DOI
- https://doi.org/10.1111/dmcn.16320
- Citations
- 1
- Primary Topic
- 14-3-3 protein interactions
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- National Key Research and Development Program of China