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PACS2致病变体与皮质发育和相关的形

Rayann Checri¹, Blandine Dozières-Puyravel¹, Monique Elmaleh-Bergès²

¹Pediatric Neurology Department, CRMR épilepsies rares, EpiCARE Member, AP-HP, Robert-Debré University Hospital, Paris, France.

Epileptic disorders : international epilepsy journal with videotape

|November 30, 2023

概括

在PACS2基因的致病变体导致发育性和性脑病变综合征. 这项研究报告了一个新的病例,将PACS2突变与皮质形联系起来,扩大已知的表型.

科学领域:

神经遗传学神经遗传学
发育神经科学的发展神经科学.
发病学 (Epileptology) 是一个专业的学科.

背景情况:

PACS2基因中的致病变体与一种自体主导综合征 (OMIM DEE66) 有关,这种综合征的特征是发育性和性脑病变,面部形和小脑形.
以前,皮层发育的形与PACS2病原性变异相关,没有报告.

研究的目的:

报告一种与皮质形相关的PACS2病原变异病例.
研究PACS2在皮层发育中的作用.

主要方法:

一个七岁孩子的临床病例报告.
基因分析发现了新的PACS2突变 (c.625G>A;p.Glu209Lys).
神经成像用于评估大脑结构.

主要成果:

这位患者出现了婴儿发作综合征和右岛屿多微症和帕奇吉利亚.
发现了一种新出现的PACS2突变 (c.625G>A;p.Glu209Lys).
这些发现表明PACS2在人类皮质发育中的潜在作用.

结论:

这种情况扩大了PACS2相关疾病的表型谱,包括皮质形.
该研究强调了在诊断PACS2相关的发育性和性脑病变时考虑小脑异常的重要性.

关键词:

这就是PACS2的意义.小脑小脑是什么意思发育性性脑病变 - 发育性性脑病变是一种.

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