SHROOM4 Variants Are Associated With X-Linked Epilepsy With Features of Generalized Seizures or Generalized Discharges

SHROOM4 Variants Are Associated With X-Linked Epilepsy With Features of Generalized Seizures or Generalized Discharges

ObjectiveSHROOM4 gene encodes an actin-binding proteins, which plays an important role in cytoskeletal architecture, synaptogenesis, and maintaining gamma-aminobutyric acid receptors-mediated inhibition. SHROOM4 mutations were reported in patients with the Stocco dos Santos type of X-linked syndromi...

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Bibliographic Details
Main Authors: Wen-Jun Bian, Zong-Jun Li, Jie Wang, Sheng Luo, Bing-Mei Li, Liang-Di Gao, Na He, Yong-Hong Yi
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-05-01
Series:Frontiers in Molecular Neuroscience
Subjects:
epilepsy
SHROOM4 gene
whole-exome sequencing
intellectual disability
genotype-phenotype correlation
sub-regional effect
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2022.862480/full

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https://www.frontiersin.org/articles/10.3389/fnmol.2022.862480/full

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