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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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Alkhater, Reem A., Wang, Peixiang, Ruggieri, Alessandra, Israelian, Lori, Walker, Susan, Scherer, Stephen W., Smith, Mary Lou, Minassian, Berge A.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Brief Communications
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6469342/
https://ncbi.nlm.nih.gov/pubmed/31020005
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.727
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