Table 1 Reported monogenic mutations which associate with ESESS/CSWSS/epilepsy aphasia spectrum
From: Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review
Gene | Location | OMIM number | Protein | Mutations | Number of reported cases | Spike-Wave Index | Associated syndromes or diagnosis | Underlying pathway | Author and date |
|---|---|---|---|---|---|---|---|---|---|
SCN2A | 2q24.3 | 182,390 | Voltage-gated sodium channel Nav1.2 | Loss of function. | 6 | Unknown | ESESS/CSWSS | Channelopathy | Wolff M et al. 2017 [21] |
NHE6/SLC9A6 | Xq26.3 | 300,231 | Solute carrier family 9, subfamily A member 6 | De novo splice site mutation (IVS10-1G > A) | 1 | > 85% | Christianson syndrome. | Na+/H+ exchanger | Zanni G et al. 2014 [11] |
DRPLA/ ATN1 | 12p13.31 | 607,462 | Atrophin 1 | Expansion of the CAG repeat. | 1 | 41.4% | Dentatorubro-pallidoluysian atrophy | Transcriptional co-repressor. | Kobayashi K et al. 2006 [22] |
Neuroserpin/ SRPX2 | Xq22.1 | 300,642 | Sushi repeat containing protein, X-linked 2 | De novo G392R mutation. | 1 | Unknown | Familial encepha-lopathy with neuroserpin inclusion bodies | Angiogenesis, Synaptogenesis | Coutelier M et al. 2008 [23] |
KCNQ2 | 20q13.33 | 602,235 | Potassium voltage-gated channel subfamily Q member 3 | Deletion at E515D p | 2 | > 50% | ESESS/CSWSS | Channelopathy | Lee IC et al. 2017 [24] |
OPA3 | 19q13.32 | 165,300 | Outer mitochondrial membrane lipid metabolism regulator | (c.143-1G > C) | 1 | 85% | Costeff syndrome | Regulates the shape of mitochondria. | Carmi N et al. 2015 [14] |
KCNA2 | 1p13.3 | 176,262 | Potassium voltage-gated channel subfamily A member 2 | De novo c.1214 C > T (p.Pro405Leu) mutation | 1 | > 90% | ESESS/CSWSS | Channelopathy | Sachdev M et al. 2017 [25] |
KCNA2 | 1p13.3 | 176,262 | Potassium voltage-gated channel subfamily A member 2 | De novo c.1214C4T p.Pro405Leu | 1 | > 80% | ESESS/CSWSS | Channelopathy | Syrbe S et al. 2015 [26] |
KCNA2 | 1p13.3 | 176,262 | Potassium voltage-gated channel subfamily A member 2 | De novo c.1214C4T p.Pro405Leu | 1 | 80–100% | ESESS/CSWSS | Channelopathy | Syrbe S et al. 2015 [26] |
KCNA2 | 1p13.3 | 176,262 | Potassium voltage-gated channel subfamily A member 2 | De novo c.1214C4T p.Pro405Leu | 1 | 70–75% | ESESS/CSWSS | Channelopathy | Syrbe S et al. 2015 [26] |
KCNA2 | 1p13.3 | 176,262 | Potassium voltage-gated channel subfamily A member 2 | c.1214C4T p.Pro405Leu | 1 | > 70% | ESESS/CSWSS | Channelopathy | Masnada S et al. 2017 [27] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | De novo c.2191G > A (p.Asp731Asn) | 1 | 80% | ESESS/CSWSS/epilepsy aphasia | Channelopathy | Gao K et al. 2017 [28] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | c.1123–2A > G | 1 | > 50% | ESESS/CSWSS/ epilepsy aphasia | Channelopathy | Lesca G et al. 2013 [29] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | c.4161C > A | 1 | > 50% | ESESS/CSWSS | Channelopathy | Lesca G et al. 2013 [29] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | Deletion at c.1510C > T | 1 | > 50% | LKS | Channelopathy | Lesca G et al. 2013 [29] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | Deletion at c.1447G > A | 1 | > 50% | ESESS/CSWSS/ epilepsy aphasia | Channelopathy | Lesca G et al. 2013 [29] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | Deletion at c.1553G > A | 1 | > 50% | ESESS/CSWSS/ epilepsy aphasia | Channelopathy | Lesca G et al. 2013 [29] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | Deletion at c.2191G > A | 1 | > 50% | ESESS/CSWSS/ epilepsy aphasia | Channelopathy | Lesca G et al. 2013 [29] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | Deletion at c.3751G > A | 1 | > 50% | ESESS/CSWSS/ epilepsy aphasia | Channelopathy | Lesca G et al. 2013 [29] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | Deletion at c.2146G > A | 1 | > 50% | ESESS/CSWSS/ epilepsy aphasia | Channelopathy | Lesca G et al. 2013 [29] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | Deletion at c.2797G > A | 1 | > 50% | LKS | Channelopathy | Lesca G et al. 2013 [29] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | Deletion at c.551 T > G | 1 | > 50% | ESESS/CSWSS | Channelopathy | Lesca G et al. 2013 [29] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | De novo deletion at c.2081 T > C | 1 | > 50% | LKS | Channelopathy | Lesca G et al. 2013 [29] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | De novo deletion at c.1954 T > G | 1 | > 50% | ESESS/CSWSS | Channelopathy | Lesca G et al. 2013 [29] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | De novo deletion at c.1642G > A | 1 | > 50% | LKS | Channelopathy | Lesca G et al. 2013 [29] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | Deletion at c.2007G > T | 1 | > 50% | ESESS/CSWSS/ epilepsy aphasia | Channelopathy | Lesca G et al. 2013 [29] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | Deletion at c.883G > A | 1 | > 50% | ESESS/CSWSS | Channelopathy | Lesca G et al. 2013 [29] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | c.3827C > G | 1 | > 50% | ESESS/CSWSS | Channelopathy | Lesca G et al. 2013 [29] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | c.1005-1C > T | 1 | > 85% | ESESS/CSWSS/ epilepsy aphasia | Channelopathy | Carvill GL et al. 2013 [30] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | c.2A > G | 1 | > 85% | ESESS/CSWSS/ epilepsy aphasia | Channelopathy | Carvill GL et al. 2013 [30] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | c.1005-1C > T | 1 | > 85% | ESESS/CSWSS/ epilepsy aphasia | Channelopathy | Carvill GL et al. 2013 [30] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | c.1592G > A | 1 | > 85% | ESESS/CSWSS/ epilepsy aphasia | Channelopathy | Carvill GL et al. 2013 [30] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | c.2041C > T | 1 | > 85% | LKS | Channelopathy | Lemke JR et al. 2013 [31] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | c.1007 + 1G > A | 1 | > 85% | LKS | Channelopathy | Lemke JR et al. 2013 [31] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | c.2140G > A | 1 | > 85% | ESESS/CSWSS | Channelopathy | Lemke JR et al. 2013 [31] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | c.2927A > G | 1 | > 85% | ESESS/CSWSS | Channelopathy | Lemke JR et al. 2013 [31] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | c.1001 T > A | 1 | > 85% | ESESS/CSWSS | Channelopathy | Lemke JR et al. 2013 [31] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | c.2334_2338delCTTGC | 1 | > 85% | ESESS/CSWSS | Channelopathy | Lemke JR et al. 2013 [31] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | c.2829C > G | 1 | > 85% | ESESS/CSWSS | Channelopathy | Lemke JR et al. 2013 [31] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | c.2007 + 1G > A | 1 | > 85% | ESESS/CSWSS | Channelopathy | Lemke JR et al. 2013 [31] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | c.236C > G | 1 | > 85% | ESESS/CSWSS | Channelopathy | Lemke JR et al. 2013 [31] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | c.692G > A | 1 | > 85% | LKS | Channelopathy | Lemke JR et al. 2013 [31] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | c.1637_1639delCTT | 1 | > 85% | ESESS/CSWSS | Channelopathy | Lemke JR et al. 2013 [31] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | c.1007 + 1G > A | 1 | > 85% | LKS | Channelopathy | Lemke JR et al. 2013 [31] |
GRIN2A | 16p13.2 | 138,253 | Glutamate ionotropic receptor NMDA type subunit 2A | c.1007 + 1G > A | 1 | > 85% | ESESS/CSWSS | Channelopathy | Lemke JR et al. 2013 [31] |
CNKSR2 | Xp22.12 | 300,724 | Connector enhancer of KSR2 | Novel nonsense mutation (c.2314 C > T; p.Arg712*) | 2 | Unknown | ESESS/CSWSS | Synaptic protein | Damiano JA et al. 2017 [32] |
SLC6A1 | 3p25.3 | 137,165 | Solute carrier family 6 member 1 | De novo c.695G > T, p.Gly232Val | 1 | 82% | ESESS/CSWSS | Gamma-aminobutyric acid (GABA) transporter | Johannesen KM et al. 2018 [33] |
SLC6A1 | 3p25.3 | 137,165 | Solute carrier family 6 member 1 | De novo c.1369_1370 delGG Gly457HisFsTer10 | 1 | Almost continuous epileptic activity. | ESESS/CSWSS | Gamma-aminobutyric acid (GABA) transporter | Johannesen KM et al. 2018 [33] |
KCNB1 | 20q13.13 | 616,056 | Potassium channel, voltage-gated, shab-related subfamily, member 1 | chr20:47990976G > Ap.T374I, chr20:47991162C > Tp.R312H, chr20:47991162C > Tp.R312H, chr20:47991181G > Ap.R306C, Chr20:47991468G > Tp.T210 K | 5 | Unknown | ESESS/CSWSS | Channelopathy | de Kovel CGF, et al. 2017 [34] |