title: Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: R
authors.initials: R
authors.lastname: Shaheen
authors.affiliation: Department of Pediatrics, Armed Forces Hospital, Khamis Mushayt, Saudi Arabia.
authors.forename: S
authors.initials: S
authors.lastname: Al Tala
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: N
authors.initials: N
authors.lastname: Ewida
authors.affiliation: Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
authors.forename: M
authors.initials: M
authors.lastname: Abouelhoda
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.|Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
authors.forename: F S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D004569:Electroencephalography; D004827:Epilepsy; D004829:Epilepsy, Generalized / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008565:Membrane Proteins; D009154:Mutation; D009419:Nerve Tissue Proteins; D018091:Receptors, AMPA / Q000235:genetics*; D012890:Sleep
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; D018091:Receptors, AMPA