A Novel CNTNAP2 Mutation Results in Abnormal Neuronal E/I Balance

CNTNAP2 (coding for protein Caspr2), a member of the neurexin family, plays an important role in the balance of excitatory and inhibitory post-synaptic currents (E/I balance). Here, we describe a novel pathogenic missense mutation in an infant with spontaneous recurrent seizures (SRSs) and intellect...

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Detalles Bibliográficos
Autores principales: Lu, Ping, Wang, Fengpeng, Zhou, Shuixiu, Huang, Xiaohua, Sun, Hao, Zhang, Yun-Wu, Yao, Yi, Zheng, Honghua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8562072/
https://www.ncbi.nlm.nih.gov/pubmed/34737720
http://dx.doi.org/10.3389/fneur.2021.712773

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8562072/
https://www.ncbi.nlm.nih.gov/pubmed/34737720
http://dx.doi.org/10.3389/fneur.2021.712773

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