Table 1.
Summary of clinical and genetic information for studied GRIN2A mutations.
| cDNA alteration | Protein alteration | Phenotype | Inheritance, Segregation (Y/N) | CADD Scaled Score | Reference |
|---|---|---|---|---|---|
| c.236C > G | P79R | RE/ECSWS | Maternal, Y | 24.9 | 16 |
| c.692G > A | C231Y | LKS | Maternal, Y | 26.7 | 16 |
| c.1306T > C | C436R | ABPE | de novo | 27 | 16 |
| c.1447G > A | G483R | ECSWS, aRE | Maternal, N | 34 | 17 |
| c.2113A > G | M705V | RE | Maternal, Y | 25.6 | 16 |
| c.2140G > A | E714K | ECSWS | Unknown | 23.4 | 16 |
| c.2191G > A | D731N | aRE, VD | Maternal, VD -Y | 26.6 | 17 |
| c.2441T > C | I814T | RE | Paternal, N | 21.5 | 16 |
| c.2797G > A | D933N | LKS | Paternal, N | 28 | 17 |
| c.2927A > G | N976S | ECSWS | Unknown | 7.2 | 16 |
| ABPE | Unknown |
cDNA annotation based on the canonical transcript ENST00000396573. Phenotype abbreviations as follows: ABPE – atypical benign partial epilepsy, aRE – atypical Rolandic epilepsy, CSWS – epileptic encephalopathy with continuous spike and wave during slow wave sleep, LKS – Landau-Kleffner Syndrome, RE – Rolandic epilepsy, VD – verbal dyspraxia. Y-yes, N-no for segregation of variants with phenotype. CADD score stands for “combined annotation dependent depletion”, a tool for scoring the deleteriousness of single nucleotide variants and were generated using v1.3 on 19 May 2016 from http://cadd.gs.washington.edu/. A score > 20 indicates the top 1% most deleterious substitutions20.