The cerebral network of COVID-19-related encephalopathy: a longitudinal voxel-based 18F-FDG-PET study
Sign Up to like & getrecommendations! Published in 2021 at "European Journal of Nuclear Medicine and Molecular Imaging"
DOI: 10.1007/s00259-020-05178-y
Abstract: Little is known about the neuronal substrates of neuropsychiatric symptoms associated with COVID-19 and their evolution during the course of the disease. We aimed at describing the longitudinal brain metabolic pattern in COVID-19-related encephalopathy using… read more here.
Keywords: covid related; cerebral network; related encephalopathy; fdg pet ... See more keywords
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
Clinical and EEG Characteristics of Ifosfamide-Related Encephalopathy
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Neurophysiology"
DOI: 10.1097/wnp.0000000000000539
Abstract: Purpose: Ifosfamide can lead to a syndrome of central nervous system toxicity. Here, we investigate the clinical and EEG characteristics of patients with ifosfamide-related encephalopathy. Methods: Retrospective data were collected on patients from Memorial Sloan… read more here.
Keywords: related encephalopathy; delta activity; ifosfamide related; clinical eeg ... See more keywords
IQSEC2-related encephalopathy in males due to missense variants in the PH domain.
Sign Up to like & getrecommendations! Published in 2022 at "Clinical genetics"
DOI: 10.1111/cge.14136
Abstract: Pathogenic variants in IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause a variety of neurodevelopmental disorders, with intellectual disability as a uniform feature. We report five cases, each with a novel missense… read more here.
Keywords: domain iqsec2; related encephalopathy; variants domain; iqsec2 related ... See more keywords
Visual Function in Children with GNAO1-Related Encephalopathy
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14030544
Abstract: Background: GNAO1-related encephalopathies include a broad spectrum of developmental disorders caused by de novo heterozygous mutations in the GNAO1 gene, encoding the G (o) subunit α of G-proteins. These conditions are characterized by epilepsy, movement… read more here.
Keywords: function children; function; gnao1 related; children gnao1 ... See more keywords