[Phenotype of infantile epileptic spasm syndrome in pyridoxin-dependent epilepsy].
IESS could be a rare phenotype of PDE. High doses of pyridoxine can control or reduce the frequency of seizures. Delayed diagnosis and treatment, secondary brain injury, and the genotype, especially deletions variants, were associated with poor prognosis.
Authors
- Xianru Jiao (ORCID: https://orcid.org/0000-0003-4836-2628)
- Zhixian Yang
- Zongpu Zhou
- Yue Niu (ORCID: https://orcid.org/0000-0002-1983-9098)
- Zhao Xu (ORCID: https://orcid.org/0000-0002-3747-0781)
- Pan Gong (ORCID: https://orcid.org/0009-0007-9929-2224)
Institutions
- Peking University (CN)
- Peking University People's Hospital (CN)
- Peking University First Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-10-18
- DOI
- https://doi.org/10.19723/j.issn.1671-167x.2024.05.005
- Citations
- 2
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article