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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Veröffentlicht in:Cold Spring Harb Mol Case Stud
Hauptverfasser: Thiffault, Isabelle, Atherton, Andrea, Heese, Bryce A., T. Abdelmoity, Ahmed, Pawar, Kailash, Farrow, Emily, Zellmer, Lee, Miller, Neil, Soden, Sarah, Saunders, Carol
Format: Artigo
Sprache:Inglês
Veröffentlicht: Cold Spring Harbor Laboratory Press 2020
Schlagworte:
Research Reports
Online Zugang: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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