Article
A novel BHLHE41 variant is associated with short sleep and resistance to sleep deprivation in humans.
Sleep - 1 Aug 2014
Pellegrino Renata, Kavakli Ibrahim Halil, Goel Namni, Cardinale Christopher J, Dinges David F, Kuna Samuel T, Maislin Greg, Van Dongen Hans P A, Tufik Sergio, Hogenesch John B, Hakonarson Hakon, Pack Allan I
Abstract excerpt
STUDY OBJECTIVES: Earlier work described a mutation in DEC2 also known as BHLHE41 (basic helix-loophelix family member e41) as causal in a family of short sleepers, who needed just 6 h sleep per night. We evaluated whether there were other variants of this gene in two well-phenotyped cohorts. DESIGN: Sequencing of the BHLHE41 gene, electroencephalographic data, and delta power analysis and functional studies...
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