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Article

[Developmental delay and seizures with or without movement abnormalities associated with DHDDS gene variant in 3 children].

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

Liu W T, Ji X N, Feng S, Gao Y Y, Xie L N, Li S P, Chen J X, Wu H H, Chen Q

Abstract excerpt

3例患儿临床以发育迟缓、癫痫发作伴不同程度运动障碍为主要表现，基因全外显子测序均为DHDDS基因变异，均诊断为DHDDS基因相关发育迟缓和癫痫伴或不伴运动障碍。2例患儿呈神经退行性病程，癫痫起病年龄分别为1岁2月龄及3岁，发作形式包括肌阵挛、强直阵挛及动作减少性发作，1例伴有热敏感表现。.

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Identifiers

PMID: 39429085
DOI: 10.3760/cma.j.cn112140-20240522-00350

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