WebFeb 8, 2024 · To identify the additional genetic contribution to the neurological phenotype, we studied as a test case a boy, with a KCNQ2 exon-7 partial duplication, by single-nucleotide polymorphism (SNP) microarray to detect copy-number variations (CNVs). The proband presented a cerebral palsy like syndrome with a severe motor and … WebBackground: Chronic sensory-predominant polyneuropathy (PN) is a common clinical problem confronting neurologists. Even with modern diagnostic approaches, many of …
Diagnostic Yield of Chromosomal Microarray and Trio Whole …
WebOct 10, 2024 · Stroke is the fifth leading cause of death in the United States. There are two major subtypes of stroke; hemorrhagic, accounting for 17% and ischemic, accounting for 83% of cases. Cryptogenic strokes account for 15-40% of strokes. Each year, approximately 795,000 individuals are diagnosed with a new stroke. Women have a higher lifetime risk of … WebApr 21, 2015 · Objective: To determine the prevalence and characteristics of copy number variations (CNVs) in children with cerebral palsy (CP) of unknown etiology, comprising … cubase set up microphone
Diagnostic yield of chromosomal microarray and trio whole exome …
WebJan 24, 2024 · Yechieli M, Gulsuner S, Ben‐Pazi H, et al. Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy. J Med Genet. 2024:jmedgenet‐2024‐107884 [Google Scholar] WebFeb 20, 2024 · Cryptogenic epilepsy is a type of epilepsy with an unknown cause or etiology. This form of epilepsy is hard to diagnose and causes several complications. Treatment options for cryptogenic epilepsy are difficult due to the unknown etiology and could cause repetition of the disease within a short period. WebDec 13, 2024 · Cerebral palsy (CP) describes a heterogeneous group of non-progressive neurodevelopmental disorders of motor impairment, which is frequently accompanied by a wide range of medical features including intellectual disability, autism spectrum disorder, epilepsy, speech and language deficits, and visual and hearing impairment [1,2,3,4].In … east brickton cash for sale