Phenotype and surgical management of drug‐resistant epilepsy in patients with <i>COL4A1</i> and <i>COL4A2</i> variants
In this case series of eight patients, epilepsy related to variants in the collagen type IV alpha 1/2 chain genes was characterized by drug-resistant localized seizures with an early onset, one-sided muscle weakness, and developmental delay. Neuroimaging revealed various brain abnormalities. Structural abnormalities outside the seizure-onset zone did not appear to affect surgical prognosis. Early surgical intervention in patients with well-defined seizure-onset zones improved seizure control and developmental outcomes.
Authors
- Xiancheng Song
- Zhaohui Sun (ORCID: https://orcid.org/0000-0001-9290-7272)
- Wenjing Zhou (ORCID: https://orcid.org/0000-0002-7272-6236)
- Yiou Liu (ORCID: https://orcid.org/0000-0003-1983-6046)
- Jianjun Bai
- Jiuluan Lin
- Qian Feng (ORCID: https://orcid.org/0000-0002-9918-836X)
- Xiaoyan Liu (ORCID: https://orcid.org/0000-0002-1732-5923)
- Siyu Wang (ORCID: https://orcid.org/0000-0002-1242-3479)
- Haixiang Wang (ORCID: https://orcid.org/0000-0001-8901-801X)
- Jie Shi (ORCID: https://orcid.org/0000-0002-7994-982X)
- Bingqing Zhang
- Jing He (ORCID: https://orcid.org/0000-0001-6867-4122)
Institutions
- Tsinghua University (CN)
Publication Details
- Journal
- Epilepsia Open
- Published
- 2025-03-08
- DOI
- https://doi.org/10.1002/epi4.70014
- Primary Topic
- Cell Adhesion Molecules Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00