Response to Steroids in IQSEC2-Related Encephalopathy Presenting with Rett-Like Phenotype and Infantile Spasms
Sign Up to like & getrecommendations! Published in 2020 at "Journal of pediatric genetics"
DOI: 10.1055/s-0040-1721371
Abstract: Introduction IQSEC2-related encephalopathy is an X-linked childhood neurodevelopmental disorder with intellectual disability, epilepsy, and autism. This disorder is caused by a mutation in the IQSEC2 gene, the product of which plays an important role in the… read more here.
Keywords: phenotype; infantile spasms; iqsec2 related; related encephalopathy ... See more keywords
Mild presentation of the congenital variant Rett syndrome in a Pakistani male: expanding the phenotype of the forkhead box protein G1 spectrum.
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000302
Abstract: Introduction Rett syndrome (RTT) is a neurodevelopmental disorder that occurs almost exclusively in females. It was first described by Austrian physician Andreas Rett in 1966 (Rett, 1966). After a brief period of normal development, patients… read more here.
Keywords: congenital variant; mild presentation; presentation congenital; rett ... See more keywords