title: Copy number variations in patients with electrical status epilepticus in sleep.
abstract: Electrical status epilepticus in sleep syndrome is the association of the electroencephalographic pattern and deficits in language or global cognitive function and behavioral problems. The etiology is often unknown, but genetic risk factors have been implicated. Array-based comparative genomic hybridization was used to identify copy number variations in 13 children with electrical status epilepticus in sleep syndrome to identify possible underlying risk factors. Seven copy number variations were detected in 4 of the 13 patients, which consisted of 6 novel gains and 1 loss, the recurrent 15q13.3 microdeletion. Two patients carried a probable pathogenic copy number variation containing a gene involved in the cholinergic pathway. Genetic aberrations in patients with electrical status epilepticus in sleep syndrome can provide an entry in the investigation of the etiology of electrical status epilepticus in sleep. However, further studies are needed to confirm our findings.
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht, the Netherlands. sietskekevelam@gmail.com
authors.forename: Sietske H G
authors.initials: SH
authors.lastname: Kevelam
authors.forename: Floor E
authors.initials: FE
authors.lastname: Jansen
authors.forename: Ellen van
authors.initials: Ev
authors.lastname: Binsbergen
authors.forename: Kees P J
authors.initials: KP
authors.lastname: Braun
authors.forename: Nienke E
authors.initials: NE
authors.lastname: Verbeek
authors.forename: Dick
authors.initials: D
authors.lastname: Lindhout
authors.forename: Martin
authors.initials: M
authors.lastname: Poot
authors.forename: Eva H
authors.initials: EH
authors.lastname: Brilstra
mesh_terms: D002663:Child Language; D002675:Child, Preschool; D056915:DNA Copy Number Variations; D004569:Electroencephalography; D020022:Genetic Predisposition to Disease; D006801:Humans; D012890:Sleep / Q000235:genetics*; D013226:Status Epilepticus / Q000235:genetics* / Q000503:physiopathology