Article
A Novel De Novo TUBB3 Variant Causing Developmental Delay, Epilepsy and Mild Ophthalmological Symptoms in a Chinese Child.
Journal of molecular neuroscience : MN - 1 Jan 2022
Xue Jiao, Song Zhenfeng, Ma Shuyin, Yi Zhi, Yang Chengqing, Li Fei, Liu Kaixuan, Zhang Ying
Abstract excerpt
Heterozygous missense mutations in TUBB3 have been implicated in various neurological disorders encompassing either isolated congenital fibrosis of the extraocular muscles type 3 (CFEOM3) or complex cortical dysplasia with other brain malformations 1 (CDCBM1). The description of seizures in patients with TUBB3 mutations is rare. Here, we reported a patient who had febrile seizures before and focal seizure this...
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