id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_akwdeoiaejhihgziie5n3kg3xu	Katherine Nelson	Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment	2018	14	.pdf	application/pdf	2489	184	49	Novel Homozygous Deletion in STRADA Gene Associated with Polyhydramnios, Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment. Mutations in the STE20-related kinase adaptor α (STRADA) gene have been reported to cause novel STRADA gene deletion of exons 7-9 in two sisters from non-consanguineous parents, as patients, all of whom shared a terminal deletion in the STRADA gene and whose disorder was At 4 months of age, the patient developed tonic motor seizures of unknown onset with At 6 months of age, the patient developed infantile spasms, which were confirmed on Exome sequencing of patient A identified a novel homozygous 4kb deletion in the STRADA gene This novel STRADA exon 7-9 deletion, in addition to the previously described case of a 5-yearold boy with a single base duplication, demonstrates that pathogenic changes in this gene occur STRADA mutations are associated with a severe early-onset childhood epilepsy phenotype.	./cache/work_akwdeoiaejhihgziie5n3kg3xu.pdf	./txt/work_akwdeoiaejhihgziie5n3kg3xu.txt