A novel de novo truncating TRIM8 variant associated with childhood-onset focal segmental glomerulosclerosis without epileptic encephalopathy: a case report

BACKGROUND: Heterozygous truncating variants in the Tripartite motif containing 8 (TRIM8) gene have been reported to cause epileptic encephalopathy, both with and without proteinuria. A recent study showed a lack of TRIM8 protein expression, with suppressor of cytokine signaling 1 (SOCS1) overexpres...

Descripción completa

Detalles Bibliográficos
Autores principales: Shirai, Yoko, Miura, Kenichiro, Kaneko, Naoto, Ishizuka, Kiyonobu, Endo, Amane, Hashimoto, Taeko, Kanda, Shoichiro, Harita, Yutaka, Hattori, Motoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686241/
https://www.ncbi.nlm.nih.gov/pubmed/34930159
http://dx.doi.org/10.1186/s12882-021-02626-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686241/
https://www.ncbi.nlm.nih.gov/pubmed/34930159
http://dx.doi.org/10.1186/s12882-021-02626-1

Ejemplares similares