Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12

Intragenic mutations in FGF12 are associated with intractable seizures, developmental regression, intellectual disability, ataxia, hypotonia, and feeding difficulties. FGF12 duplications are rarely reported, but it was suggested that those might have a similar gain‐of‐function effect and lead to a m...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Epilepsia Open
Main Authors: Willemsen, Marjolein H., Goel, Himanshu, Verhoeven, Judith S., Braakman, Hilde M. H., de Leeuw, Nicole, Freeth, Alison, Minassian, Berge A.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2020
Fag:
Short Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7278552/
https://ncbi.nlm.nih.gov/pubmed/32524056
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/epi4.12396
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker