Perampanel effectiveness in treating ROGDI-related Kohlschutter-Tonz syndrome: first reported case in China and literature review.

ABSTRACT:

Purpose

This study reported the first case of Kohlschütter-Tönz syndrome (KTS) in China and reviewed the literature of the reported cases.

Methods

This patient was registered at the Children's Hospital of Chongqing Medical University. The patient's symptoms and treatments were recorded in detail, and the patient was monitored for six years. We employed a combination of the following search terms and Boolean operators in our search strategy: Kohlschütter-Tönz syndrome, KTS, and ROGDI. These terms were carefully selected to capture a broad range of relevant publications in PubMed, Web of Science, WHO Global Health Library, and China National Knowledge Infrastructure, including synonyms, variations, and specific terms related to KTS. The pathogenicity of the variants was predic

SUBMITTER: Meng L 

PROVIDER: S-EPMC10652482 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature