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. Epub 2016 May 30.

Authors

R Shaheen¹, S Al Tala², N Ewida¹, M Abouelhoda³, F S Alkuraya^{1

4}

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.

PMID: 27239025
DOI: 10.1111/cge.12796

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Electroencephalography*
Epilepsy
Epilepsy, Generalized / genetics*
Epilepsy, Generalized / physiopathology
Humans
Membrane Proteins
Mutation*
Nerve Tissue Proteins
Receptors, AMPA / genetics*
Sleep*

Substances

Membrane Proteins
Nerve Tissue Proteins
Receptors, AMPA