Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation

OBJECTIVE: To identify whether somatic mutations in SLC35A2 alter N-glycan structures in human brain tissues and cause nonlesional focal epilepsy (NLFE) or mild malformation of cortical development (mMCD). METHODS: Deep whole exome and targeted sequencing analyses were conducted for matched brain an...

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Detalles Bibliográficos
Autores principales: Sim, Nam Suk, Seo, Youngsuk, Lim, Jae Seok, Kim, Woo Kyeong, Son, Hyeonju, Kim, Heung Dong, Kim, Sangwoo, An, Hyun Joo, Kang, Hoon-Chul, Kim, Se Hoon, Kim, Dong-Seok, Lee, Jeong Ho
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283456/
https://www.ncbi.nlm.nih.gov/pubmed/30584598
http://dx.doi.org/10.1212/NXG.0000000000000294

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283456/
https://www.ncbi.nlm.nih.gov/pubmed/30584598
http://dx.doi.org/10.1212/NXG.0000000000000294

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