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Case Report: A Case of Epileptic Disorder Associated With a Novel CNTN2 Frameshift Variant in Homozygosity due to Maternal Uniparental Disomy

Background: Contactin 2, encoded by CNTN2 on chromosome 1q32.1, is a neural-specific glycoprotein and plays important roles in neurodevelopment. A deleterious homozygous variant in the CNTN2 gene was previously reported to cause autosomal recessive cortical myoclonic tremor and epilepsy. Since then,...

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Detalles Bibliográficos
Autores principales: Chen, Wenjie, Chen, Fei, Shen, Yiping, Yang, Zhixian, Qin, Jiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8531716/
https://www.ncbi.nlm.nih.gov/pubmed/34691156
http://dx.doi.org/10.3389/fgene.2021.743833