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Updated: Jun 19, 2025

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三个患有自限性家族性婴儿的兄弟姐妹与PRRT2突变:一个病例系列

Naoto Iwanami1, Shigeru Nagaki1,2, Aki Gen1

  • 1Department of Pediatrics, Toda Chuo General Hospital, Saitama, Japan.

SAGE open medical case reports
|July 26, 2024
PubMed
概括

富含プロ林的跨膜蛋白2 (PRRT2) 的突变导致自我限制的家族性婴儿. 这项研究详细介绍了三位患有这种疾病的姐妹,突出了尽管具有共同的PRRT2突变,但表现和治疗反应的变化.

关键词:
PRRT2 是一个 PRRT2 的类型.自限家族性婴儿自限家族性婴儿卡巴马西平是一种碳化合物.婴儿和胆症的发生.帕洛克西斯马尔中国性运动障碍症 (paroxysmal kinesigenic dyskinesia) 是一种运动障碍.

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Seizures: Classification01:13

Seizures: Classification

Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
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