Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression

Early infantile epileptic encephalopathy (EIEE) is a severe disorder associated with epilepsy, developmental delay and intellectual disability, and in some cases premature mortality. We report the case of a female infant with EIEE and strikingly suppressed respiratory dysfunction that led to death....

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Detalles Bibliográficos
Autores principales: Rochtus, Anne M., Trowbridge, Sara, Goldstein, Richard D., Sheidley, Beth Rosen, Prabhu, Sanjay P., Haynes, Robin, Kinney, Hannah C., Poduri, Annapurna H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371743/
https://www.ncbi.nlm.nih.gov/pubmed/30709877
http://dx.doi.org/10.1101/mcs.a003442

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371743/
https://www.ncbi.nlm.nih.gov/pubmed/30709877
http://dx.doi.org/10.1101/mcs.a003442

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