id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_o42ruo34jrhiljq272hnlc6zri	Isabelle Thiffault	Pathogenic variants in KPTN gene identified by Clinical Whole-Genome Sequencing	2020.0	11	.pdf	application/pdf	7061	2688	83	Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing a 9-yr-old male patient who was admitted to the intensive care unit, with focal epilepsy, static encephalopathy, autism spectrum disorder, and macrocephaly of unknown etiology, who Clinical whole-genome sequencing revealed compound heterozygous variants in the KPTN gene. Whole-exome sequencing (WES) or whole-genome sequencing (WGS) allows diagnoses in many patients with complex phenotypes and unusual clinical Clinical diagnostic sequencing currently focuses on identifying causal mutations in the exome (∼1% of the genome), where most disease-causing mutations are known to occur. accurate, and cost-effective molecular diagnosis in a pediatric patient with a genetically heterogeneous phenotype. reported in January of 2014 in patients with a syndrome typified by macrocephaly, neurodevelopmental delay, and seizures (MRT41; OMIM# 615637) (Baple et al. A comparison of the individual clinical signs in patients reported with KPTN-related disease are shown in Table 2.	./cache/work_o42ruo34jrhiljq272hnlc6zri.pdf	./txt/work_o42ruo34jrhiljq272hnlc6zri.txt