Article

Perampanel Effectiveness in Treating ROGDI-Related Kohlschütter- Tönz Syndrome: First Reported Case in China and Literature Review

2023-07-21

Abstract excerpt

<h4>Purpose: </h4> This study reported the first case of Kohlschütter-Tönz syndrome (KTS) in China and reviewed the literature on the 43 reported cases. <h4>Methods: </h4> This patient was registered at the Children’s Hospital of Chongqing Medical University. A pathogenic ROGDI variant was identified using trio whole exome sequencing (trio-WES). The patient’s symptoms and treatments were recorded in detail, and t...

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Literature Corpus work: fe4b87bf-d54d-5cc4-9cca-568c291f823e
DOI: 10.21203/rs.3.rs-3100047/v1

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