A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease caused by mutations in the ALDH7A1 gene leading to blockade of the lysine catabolism pathway. PDE is characterized by recurrent seizures that are resistant to conventional anticonvulsant treatment but are well-controlled by py...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Principais autores: Al-Shekaili, Hilal H, Petkau, Terri L, Pena, Izabella, Lengyell, Tess C, Verhoeven-Duif, Nanda M, Ciapaite, Jolita, Bosma, Marjolein, van Faassen, Martijn, Kema, Ido P, Horvath, Gabriella, Ross, Colin, Simpson, Elizabeth M, Friedman, Jan M, van Karnebeek, Clara, Leavitt, Blair R
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7689292/
https://ncbi.nlm.nih.gov/pubmed/32969477
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa202
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