A genetic cause for intractable seizures: Atypical Gaucher disease with a novel pathological variant

IF 1.9 4区医学 Q3 CLINICAL NEUROLOGY

Epileptic Disorders Pub Date : 2024-05-07 DOI:10.1002/epd2.20204

Selen Üçem, Şahin Avcı, Candan Gürses

引用次数: 0

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难治性癫痫发作的遗传原因：具有新型病理变异的非典型戈谢病。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Epileptic Disorders 医学-临床神经学

CiteScore

4.10

自引率

8.70%

发文量

138

审稿时长

6-12 weeks

期刊介绍： Epileptic Disorders is the leading forum where all experts and medical studentswho wish to improve their understanding of epilepsy and related disorders can share practical experiences surrounding diagnosis and care, natural history, and management of seizures. Epileptic Disorders is the official E-journal of the International League Against Epilepsy for educational communication. As the journal celebrates its 20th anniversary, it will now be available only as an online version. Its mission is to create educational links between epileptologists and other health professionals in clinical practice and scientists or physicians in research-based institutions. This change is accompanied by an increase in the number of issues per year, from 4 to 6, to ensure regular diffusion of recently published material (high quality Review and Seminar in Epileptology papers; Original Research articles or Case reports of educational value; MultiMedia Teaching Material), to serve the global medical community that cares for those affected by epilepsy.