Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy

ObjectiveThe LAMA5 gene encodes the laminin subunit α5, the most abundant laminin α subunit in the human brain. It forms heterotrimers with the subunit β1/β2 and γ1/γ3 and regulates neurodevelopmental processes. Genes encoding subunits of the laminin heterotrimers containing subunit α5 have been rep...

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Hlavní autoři: Sheng Luo, Zhi-Gang Liu, Juan Wang, Jun-Xia Luo, Xing-Guang Ye, Xin Li, Qiong-Xiang Zhai, Xiao-Rong Liu, Jie Wang, Liang-Di Gao, Fu-Li Liu, Zi-Long Ye, Huan Li, Zai-Fen Gao, Qing-Hui Guo, Bing-Mei Li, Yong-Hong Yi, Wei-Ping Liao
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2022-05-01
Edice:Frontiers in Molecular Neuroscience
Témata:
LAMA5 gene
infant-onset epilepsy
laminins
trios-based WES
spasms
On-line přístup:https://www.frontiersin.org/articles/10.3389/fnmol.2022.825390/full
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