Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy

Mis‐secreted glycoproteins (LGI1, reelin) are emerging causes of epilepsy. LMAN2L belongs to a glycoprotein secretion chaperone family. One recessive LMAN2L missense mutation predicted to impair the chaperone's interaction with glycoproteins was reported in a family with intellectual disability...

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Detalles Bibliográficos
Autores principales: Alkhater, Reem A., Wang, Peixiang, Ruggieri, Alessandra, Israelian, Lori, Walker, Susan, Scherer, Stephen W., Smith, Mary Lou, Minassian, Berge A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469342/
https://www.ncbi.nlm.nih.gov/pubmed/31020005
http://dx.doi.org/10.1002/acn3.727

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469342/
https://www.ncbi.nlm.nih.gov/pubmed/31020005
http://dx.doi.org/10.1002/acn3.727

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