Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Juan Jose Nieto-Barcelo"'
Publikováno v:
Anales de Pediatría, Vol 90, Iss 4, Pp 252-253 (2019)
Externí odkaz:
https://doaj.org/article/d10a6247301b4974930341f6f0fe8847
Autor:
Beatriz Beseler Soto, Francisco Martínez, Alejandro Montoya Filardi, Juan Jose Nieto-Barcelo, Ana Victoria Marco Hernández, Alfonso Caro, Miguel Tomás Vila, Sandra Monfort
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 188(1)
Mutations in SPTAN1 gene, encoding the nonerythrocyte αII-spectrin, are responsible for a severe developmental and epileptic encephalopathy (DEE5) and a wide spectrum of neurodevelopmental disorders, as epilepsy with or without intellectual disabili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59bd96cb4b3b3ffd285284fe1e2a5904
https://pubmed.ncbi.nlm.nih.gov/34590414
https://pubmed.ncbi.nlm.nih.gov/34590414
Autor:
Isabel Gonzalo Alonso, Francisco Martínez, Juan Jose Nieto-Barcelo, Miguel Tomás Vila, Ana Victoria Marco Hernández, María José Aparisi, Marina Martinez-Matilla, Noelia Gonzalez Montes
Publikováno v:
J Pediatr Genet
Journal of Pediatric Genetics
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Journal of Pediatric Genetics
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Mutations in SCN2A genes have been described in patients with epilepsy, finding a large phenotypic variability, from benign familial epilepsy to epileptic encephalopathy. To explain this variability, it was proposed the existence of dominant modifier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ed6475d2aa91949fc77a7fee93e9843
https://europepmc.org/articles/PMC10118702/
https://europepmc.org/articles/PMC10118702/
Publikováno v:
Anales de pediatria. 90(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7d6842d78229103967f297fa25f80b84
https://pubmed.ncbi.nlm.nih.gov/29691133
https://pubmed.ncbi.nlm.nih.gov/29691133