A Novel X-Linked Variant of IQSEC2 is Associated with Lennox-Gastaut Syndrome and Mild Intellectual Disability in Three Generations of a Korean Family.
Sign Up to like & getrecommendations! Published in 2019 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2019.0177
Abstract: Aim: Lennox-Gastaut syndrome (LGS) is a severe type of childhood-onset epilepsy with multiple types of seizures, specific discharges on electroencephalography, and intellectual disability. However, LGS-related genes are largely unknown. To identify causative genes related to… read more here.
Keywords: gastaut syndrome; intellectual disability; disability; lennox gastaut ... See more keywords
Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females
Sign Up to like & getrecommendations! Published in 2019 at "Life Science Alliance"
DOI: 10.26508/lsa.201900386
Abstract: We show that the loss of Iqsec2 function in mice recapitulates key aspects of the human phenotype, irrespective of the X-inactivation status of the gene between species. Our understanding of the traditional X-chromosome inheritance with… read more here.
Keywords: loss iqsec2; activated arf6; mice; iqsec2 ... See more keywords