1. Academic Validation
  2. Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L

Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L

  • Clin Genet. 2016 Sep;90(3):282-3. doi: 10.1111/cge.12796.
R Shaheen 1 S Al Tala 2 N Ewida 1 M Abouelhoda 3 F S Alkuraya 1 4
Affiliations

Affiliations

  • 1 Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • 2 Department of Pediatrics, Armed Forces Hospital, Khamis Mushayt, Saudi Arabia.
  • 3 Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
  • 4 Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
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