Case Report: Novel SLC9A6 Splicing Variant in a Chinese Boy With Christianson Syndrome With Electrical Status Epilepticus During Sleep

We investigated the existence and potential pathogenicity of a SLC9A6 splicing variant in a Chinese boy with Christianson Syndrome (CS), which was reported for the first time in China. Trio whole-exome sequencing (WES) was performed in the proband and his parents. Multiple computer prediction tools...

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Detalles Bibliográficos
Autores principales: Liu, Xiaorui, Xie, Lingling, Fang, Zhixu, Jiang, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8795361/
https://www.ncbi.nlm.nih.gov/pubmed/35095740
http://dx.doi.org/10.3389/fneur.2021.796283

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8795361/
https://www.ncbi.nlm.nih.gov/pubmed/35095740
http://dx.doi.org/10.3389/fneur.2021.796283

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