Fine mapping and candidate gene analysis of a dravet syndrome modifier locus on mouse chromosome 11

Pathogenic variants in SCN1A result in a spectrum of phenotypes ranging from mild febrile seizures to Dravet syndrome, a severe infant-onset epileptic encephalopathy. Individuals with Dravet syndrome have developmental delays, elevated risk for sudden unexpected death in epilepsy (SUDEP), and have m...

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Detalles Bibliográficos
Autores principales: Kearney, Jennifer A., Copeland-Hardin, Letonia D., Duarte, Samantha, Zachwieja, Nicole A., Eckart-Frank, Isaiah K., Hawkins, Nicole A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9616761/
https://www.ncbi.nlm.nih.gov/pubmed/35606653
http://dx.doi.org/10.1007/s00335-022-09955-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9616761/
https://www.ncbi.nlm.nih.gov/pubmed/35606653
http://dx.doi.org/10.1007/s00335-022-09955-y

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