The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

• Published in: Epilepsia (Copenhagen) Vol. 57; no. 11; pp. 1858 - 1869
• Main Authors: 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., Kossoff, Eric H., Willems, Marjolaine, Geneviève, David, Tran‐Mau‐Them, Frederic, Epstein, Orna, Heyman, Eli, Dugan, Sarah, Masurel‐Paulet, Alice, Piton, Ame'lie, Kleefstra, Tjitske, Pfundt, Rolph, Sato, Ryo, Tzschach, Andreas, Matsumoto, Naomichi, Saitsu, Hirotomo, Leshinsky‐Silver, Esther, Lerman‐Sagie, Tally
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01.11.2016; Wiley
• Subjects: 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

Summary Objective IQSEC2 is an X‐linked gene associated with intellectual disability (ID) and epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with IQSEC2 pathogenic variants. Methods Forty‐eight patients with IQSEC2 variants were identified worldwide through Medlin...