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Article

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

Cold Spring Harbor molecular case studies - 1 Jun 2020

Thiffault Isabelle, Atherton Andrea, Heese Bryce A, T Abdelmoity Ahmed, Pawar Kailash, Farrow Emily, Zellmer Lee, Miller Neil, Soden Sarah, Saunders Carol

Abstract excerpt

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, effective molecular diagnosis in a pediatric patient with a genetically heterogeneous phenotype is essential....

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PMID: 32358097
DOI: 10.1101/mcs.a003970
PMCID: PMC7304362

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