Article
An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency.
Clinica chimica acta; international journal of clinical chemistry - 1 Jun 2022
Liu Ling, Wang Jing, Li Haiyu, Dong Yan, Li Ying, Xia Lei, Yang Bo, Wang Handuo, Xu Yiran, Cheng Guomei, Du Kaixian, Zhang Xiaoli, Zhu Changlian, Cui Shihong, Ren Chenchen
Abstract excerpt
BACKGROUND AND OBJECTIVE: Asparagine synthetase deficiency (ASNSD) is a rare neurometabolic disease caused by variations of the ASNS gene. It manifests as microcephaly, severe developmental delay, and spastic quadriplegia. 71% of ASNSD patients died during early infancy. We aim to investigate mutations related to intractable epilepsy in one Chinese genealogy. MATERIAL AND METHODS: Head Magnetic Resonance Imaging...
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