Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self‐limited infantile epilepsy by trios whole‐exome sequencing
This study investigated the genetic architecture of two infantile epilepsy syndromes: IESS and SeLIE. We demonstrated that IESS has a more heterogeneous genetic background, whereas SeLIE is associated with more specific variants. These findings provide novel insights into the genetic underpinnings of IESS.
Authors
- Qian Wan (ORCID: https://orcid.org/0000-0001-6731-0984)
- Tingsong Li (ORCID: https://orcid.org/0000-0003-4536-3211)
- Yupeng Cun (ORCID: https://orcid.org/0000-0002-4241-8099)
- Congjie Chen (ORCID: https://orcid.org/0000-0001-8011-5964)
- Weitian Lu (ORCID: https://orcid.org/0000-0001-8242-2327)
- Sun Yihong (ORCID: https://orcid.org/0000-0002-0884-3235)
- Ningning Chen (ORCID: https://orcid.org/0009-0007-4115-3547)
Institutions
- Children's Hospital of Chongqing Medical University (CN)
- Chongqing Medical University (CN)
Publication Details
- Journal
- Epilepsia Open
- Published
- 2025-12-19
- DOI
- https://doi.org/10.1002/epi4.70208
- Primary Topic
- Epilepsy research and treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Chongqing Medical University