Table 1: Genetic factors that have been described in association with CSWS.

StudyType of studyAssociation

Beaumanoir et al., 1995 [104]Case reportCSWS in two monozygotic twins

Praline et al., 2006 [105]Case reportTwo siblings with ESES and different clinical presentations

Verhoeven et al., 2012 [106]Case reportOne patient with CSWS and dysmorphic features carried a de novo 8q12.3q13.2 microdeletion

Godfraind et al., 2008 [107]Case reportOne patient with CSWS carried a G392R mutation in neuroserpin of probable pathogenic significance (the mutation led to a progressive neurodegenerative disease and CSWS)

Nakayama et al., 2012 [108]Case series (2 patients with CSWS)Two patients with CSWS and dysmorphic features carried an unbalanced translocation between 8p and 9p

Broli et al., 2011 and Giorda et al., 2009 [109, 110] Case series (2400 subjects with isolated or syndromic intellectual disability)Five patients with CSWS carried a Xp11.22-p11.23 duplication

Kevelam et al., 2012 [40]Case series (13 children with ESES and different clinical presentations)Two patients with CSWS carried copy number variations in CHRNA7 and PCYT1B genes of probable pathogenic significance

Mefford et al., 2011 [111]Case series (315 patients with different epileptic encephalopathies, 29 had CSWS or Landau-Kleffner syndrome)One patient with CSWS carried a copy number variant in the DOK5 gene of uncertain pathogenic significance

Reutlinger et al., 2010 [112]Case series (3 patients with ESES and different clinical presentations)Three patients with ESES and different clinical presentations and dysmorphic features carried a deletion in 16p13.2p13.13

Atkins and Nikanorova, 2011 [66]Case series (20 patients with ESES and different clinical presentations)One patient with ESES (no further details on clinical presentation) carried a partial trisomy 13/21

Legend: CSWS: continuous spikes and waves during sleep. ESES: electrical status epilepticus in sleep.