Table 1 Genetic variations and irregular splicing of GPHN characterized in patients with neurological disorders.
From: Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversity
Diseases | Genetic variations | Previous exon nomenclature | References | Novel exon nomenclature |
|---|---|---|---|---|
Seizure, ASD, and SCZD | Deletion | Fusion exon 3–5 | Lionel et al., 2013 | Fusion exon 10–14 |
IGE | Deletion | Fusion exon 1–4 | Dejanovic et al. 2014 | Fusion exon 1–12 |
IGE | Deletion | Fusion exon 4–10 | Dejanovic et al. 2014 | Fusion exon 12–27 |
TLE | Irregular splicing | Splice junction exon 3–9 | Forstera et al., 2010 | Splice junction exon 5–16 |
TLE | Irregular splicing | Splice junction exon 5–9 | Forstera et al., 2010 | Splice junction exon 12–16 |
TLE | Irregular splicing | Splice junction exon 4–8 | Forstera et al., 2010 | Splice junction exon 10–15 |
TLE | Irregular splicing | Junction exon 3–5 | Forstera et al., 2010 | Junction exon 5–12 |
TLE | Irregular splicing | Junction exon 5–8 | Forstera et al., 2010 | Junction exon 12–15 |
EE | Missense mutation G375D | Exon 17 G > A | Dejanovic et al., 2015 | Exon 29 G > A |
