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
Publicado en:Cold Spring Harb Mol Case Stud
Main Authors: Thiffault, Isabelle, Atherton, Andrea, Heese, Bryce A., T. Abdelmoity, Ahmed, Pawar, Kailash, Farrow, Emily, Zellmer, Lee, Miller, Neil, Soden, Sarah, Saunders, Carol
Formato: Artigo
Idioma:Inglês
Publicado: Cold Spring Harbor Laboratory Press 2020
Assuntos:
Research Reports
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7304362/
https://ncbi.nlm.nih.gov/pubmed/32358097
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003970
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