Table 1.
list of the most frequent genes associated to ISS
| Gene | Cytogenetic location |
|---|---|
| ARX | Xp21.3 |
| CDKL5 | Xp22.13 |
| PAFAH1B1/LIS1 | 17p13.3 |
| DCX | Xq23 |
| TUBA1A | 12q13.12 |
| STXBP1 | 9q34.11 |
| KCNQ2 | 20q13.33 |
| SPTAN | 9q34.11 |
| MAGI2 | 7q21.11 |
| GRIN2A | 16p13.2 |
| FOXG1 | 14q12 |
| NSD1 | 5q35.3 |
| NEDD4 | 15q21.3 |
| CALN1 | 7q11.22 |
| WDR45 | Xp11.23 |
| SLC1A4 | 2p14 |
| RARS2 | 6q15 |
| UBA5 | 3q22.1 |
| IARS2 | 1q41 |
| PHACTR1 | 6p24.1 |
| ATP2A2 | 12q24.11 |
| CD99L2 | Xq28 |
| CLCN6 | 1p36.22 |
| CYFIP1 | 15q11.2 |
| CYFIP2 | 5q33.3 |
| GNB1 | 1p36.33 |
| GPT2 | 16q11.2 |
| HUWE1 | Xp11.22 |
| KMT2D | 12q13.12 |
| MYO18A | 17q11.2 |
| NOS3 | 7q36.1 |
| RYR1 | 19q13.2 |
| RYR2 | 1q43 |
| RYR3 | 15q13.3-q14 |
| TAF1 | Xq13.1 |
| TECTA | 11q23.3 |
| PURA | 5q31.3 |
ARX, aristaless related homeobox; ATP2A2, ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2; CALN1, calneuron 1; CD99L2, CD99molecule like 2; CDKL5, cyclin dependent kinase like 5; CLCN6, chloride voltage-gated channel 6; CYFIP1, cytoplasmic FMR1 interacting protein 1; CYFIP2, cytoplasmic FMR1 interacting protein; DCX, doublecortin; FOXG1: forkhead box G1; GNB1, G protein subunit beta 1; GPT2, glutamic--pyruvic transaminase 2; GRIN2A, glutamate ionotropic receptor NMDA type subunit 2; HUWE1, HECT,UBA,WWE domain containing 1; IARS2, isoleucyl-tRNAsynthetase 2, mitochondrial; KCNQ2, potassium voltage-gated channel subfamily Q member 2; KMT2D, lysine methyltransferase 2D; MAGI2, membrane associated guanylatekynase; MYO18A, myosin XVIIIA; NEDD4, neural precursor cell espressed, developmentally down regulated 4-2, E3 ubiquitin protein ligase; NOS3, nitric oxide synthase 3; NSD1, nuclear receptor binding SET domain; PAFAH1B1, platelet activating factor acetylhydrolase; PHACTR1, phosphatase and actin regulator 1; PURA, purine rich element binding protein A; RARS2, arginyl-tRNAsynthetase 2, mitochondrial; RYR1, ryanodine receptor 1; RYR2, ryanodine receptor 2; RYR3, ryanodine receptor 3; SLC1A4, solute carrier family 1 member 4; SPTAN: spectrin alpha, non-erythrocytic