Complex Mosaicism of Two Distinct Mutations in a Female Patient With KCNA2-Related Encephalopathy: A Case Report

KCNA2 gene mutations were described to cause a new molecular entity within the developmental and epileptic or epileptic encephalopathies. Here, we firstly reported a patient with an unusual mosaicism for KCNA2, presenting two distinct mosaic missense mutations at the same loci. Clinical trio-based w...

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Detalles Bibliográficos
Autores principales: Gong, Pan, Jiao, Xianru, Zhang, Yuehua, Yang, Zhixian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7438874/
https://www.ncbi.nlm.nih.gov/pubmed/32903602
http://dx.doi.org/10.3389/fgene.2020.00911

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7438874/
https://www.ncbi.nlm.nih.gov/pubmed/32903602
http://dx.doi.org/10.3389/fgene.2020.00911

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