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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]
  1. OMIM; Online Mendelian Inheritance in Man, ESESS; electrical status epilepticus during slow-wave sleep, CSWSS; continuous spike-wave of slow sleep