Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.

IF 0.6 4区医学 Q4 CLINICAL NEUROLOGY Neurocase Pub Date : 2022-12-01 DOI:10.1080/13554794.2023.2176779

Dovlat Khalilov, Garen Haryanyan, Baris Salman, Emrah Yucesan, Sibel Ugur Iseri, Nerses Bebek

引用次数: 0

Abstract

Developmental and Epileptic Encephalopathies (DEEs) are a group of early-onset syndromic disorders characterized by varying degree of intellectual disability, autism spectrum, seizures, and developmental delay. Herein, we have clinically and genetically dissected three siblings from Turkey with DEE born to first cousin unaffected parents. We identified a homozygous pathogenic variant in ELP2 (ENST00000358232.11:c.1385G>A; p.(Arg462Gln)). Our results, together with in depth literature review, underlie the importance of codon encoding the arginine at position 462 as a hotspot for ELP2 related neurological phenotypes.

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癫痫或神经发育障碍与三个兄弟姐妹的纯合子和致病性ELP2变异有关。

发展性和癫痫性脑病是一组以不同程度的智力残疾、自闭症谱系、癫痫发作和发育迟缓为特征的早发性综合征疾病。在此，我们对来自土耳其的三个兄弟姐妹进行了临床和基因解剖，这些兄弟姐妹由未受影响的第一表兄弟姐妹所生。我们在ELP2中发现了一个纯合致病变异(ENST00000358232.11:c.1385G> a;(Arg462Gln)页)。我们的研究结果以及深入的文献综述表明，编码位置462的精氨酸的密码子作为ELP2相关神经表型的热点具有重要意义。

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

Neurocase 医学-精神病学

CiteScore

1.40

自引率

12.50%

发文量

审稿时长

6-12 weeks

期刊介绍： Neurocase is a rapid response journal of case studies and innovative group studies in neuropsychology, neuropsychiatry and behavioral neurology that speak to the neural basis of cognition. Four types of manuscript are considered for publication: single case investigations that bear directly on issues of relevance to theoretical issues or brain-behavior relationships; group studies of subjects with brain dysfunction that address issues relevant to the understanding of human cognition; reviews of important topics in the domains of neuropsychology, neuropsychiatry and behavioral neurology; and brief reports (up to 2500 words) that replicate previous reports dealing with issues of considerable significance. Of particular interest are investigations that include precise anatomical localization of lesions or neural activity via imaging or other techniques, as well as studies of patients with neurodegenerative diseases, since these diseases are becoming more common as our population ages. Topic reviews are included in most issues.