|
| Study | Type of study | Association |
|
|
Beaumanoir et al., 1995 [104] | Case report | CSWS in two monozygotic twins |
|
| Praline et al., 2006 [105] | Case report | Two siblings with ESES and different clinical presentations |
|
| Verhoeven et al., 2012 [106] | Case report | One patient with CSWS and dysmorphic features carried a de novo 8q12.3q13.2 microdeletion |
|
|
Godfraind et al., 2008 [107] | Case report | One 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 |
|
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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 |
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