The molecular and phenotypic spectrum of IQSEC2‐related epilepsy - Zerem, Ayelet; Haginoya, Kazuhiro; Lev, Dorit; Blumkin, Lubov; Kivity, Sara; Linder, Ilan; Shoubridge, Cheryl; Palmer, Elizabeth Emma; Field, Michael; Boyle, Jackie; Chitayat, David; Gaillard, William D.; et al. (Epilepsia (Copenhagen), 2016)
Keywords: Adolescent; Adult; Brain - diagnostic imaging; Child; Child, Preschool; Cohort Studies; Electroencephalography; Epilepsy; Epilepsy - diagnostic imaging; Epilepsy - genetics; Epilepsy - physiopathology; Epileptic encephalopathy; Exome sequencing; Female; Genetic Association Studies; Guanine Nucleotide Exchange Factors - genetics; Human health and pathology; Humans; Intellectual disabilities; Intellectual disability; Life Sciences; Magnetic Resonance Imaging; Male; Mutation - genetics; Neurons and Cognition; NMR; Nuclear magnetic resonance; Phenotype; X‐linked; Young Adult; X-linked; Epileptic encephalopathy; Intellectual disability; Exome sequencing