Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing

Status epilepticus is not rare in critically ill intensive care unit patients, but its diagnosis is often delayed or missed. The mortality for convulsive status epilepticus is dependent on the underlying aetiologies and the age of the patients and thus varies from study to study. In this context, ef...

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Detalles Bibliográficos
Autores principales: Thiffault, Isabelle, Atherton, Andrea, Heese, Bryce A., T. Abdelmoity, Ahmed, Pawar, Kailash, Farrow, Emily, Zellmer, Lee, Miller, Neil, Soden, Sarah, Saunders, Carol
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304362/
https://www.ncbi.nlm.nih.gov/pubmed/32358097
http://dx.doi.org/10.1101/mcs.a003970

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304362/
https://www.ncbi.nlm.nih.gov/pubmed/32358097
http://dx.doi.org/10.1101/mcs.a003970

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