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Article

[Polymicrogyria associated with ADGRG1 gene variations in a child].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Nov 2024

Liu X R, Jiang T J, Yang X H, Wu D W, Tong F, Gao F

Abstract excerpt

患儿为7月龄男童，以智力及运动发育迟缓、癫痫为主要表现，头颅磁共振成像可见弥漫性多小脑回畸形、脑白质异常信号、小脑及脑干发育不良，脑电背景活动可见不符合年龄的广泛性高幅节律性活动伴痫样放电、睡眠期可见极度纺锤。全外显子组测序检出ADGRG1基因母源性c.215del（p.P72Lfs*41）及父源性c.1906C>T（p.Q636*）复合杂合变异，既往未见报道，诊断为ADGRG1基因变异相关多小脑回畸形。.

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Identifiers

PMID: 39429086
DOI: 10.3760/cma.j.cn112140-20240621-00420

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