Cargando…
Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy
Pathogenic variants in the voltage-gated sodium channel gene (SCN1A) are amongst the most common genetic causes of childhood epilepsies. There is considerable heterogeneity in both the types of causative variants and associated phenotypes; a recent expansion of the phenotypic spectrum of SCN1A assoc...
Autores principales: | Gorman, Kathleen M, Peters, Colin H, Lynch, Bryan, Jones, Laura, Bassett, Dani S, King, Mary D, Ruben, Peter C, Rosch, Richard E |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8568850/ https://www.ncbi.nlm.nih.gov/pubmed/34755109 http://dx.doi.org/10.1093/braincomms/fcab235 |
Ejemplares similares
-
Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report
por: Tian, Maoqiang, et al.
Publicado: (2022) -
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations
por: Vetro, Annalisa, et al.
Publicado: (2020) -
SCN1B‐linked early infantile developmental and epileptic encephalopathy
por: Aeby, Alec, et al.
Publicado: (2019) -
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy
por: Dafsari, Hormos Salimi, et al.
Publicado: (2022) -
Case Series of Early SCN1A-Related Developmental and Epileptic Encephalopathies
por: Gowda, Vykuntaraju Kammasandra, et al.
Publicado: (2021)