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LITERATURE DETAIL · PMID 42269415
Genetic analysis of self-limiting familial infantile epilepsy caused by PRRT2 variants in Indian patients.
Genetic analysis of self-limiting familial infantile epilepsy caused by PRRT2 variants in Indian patients.
- 저자
- Revathi Sampath, Prabhakara Somanna, Vykuntaraju K Gowda, Anbazhagan Kolandaswamy, Megha K, Prashanth Lingappa Kukkle
- 저널
- Seizure
- 공개일
- 2026 Aug
- 연구 유형
- 기타
- DOI
- 10.1016/j.seizure.2026.05.025
문헌 요약
Self-limiting familial infantile epilepsy (SeLFIE) is an epilepsy syndrome characterized by recurrent focal motor seizures. It follows an autosomal dominant inheritance pattern. Phenotypic and genetic heterogeneity of SeLFIE are associated with the PRRT2 gene, with the most common mutation being the frameshift variant c.649dupC. This study broadens the mu…
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누적 안전성 근거로 분류하고 기존 시그널과의 일관성을 확인합니다.