| | Max Magnitude | Chromosome position | Summary |
|---|
| rs1057517856 | 0 | 127,672,099 | |
| rs1057517880 | 0 | 127,668,162 | |
| rs1057518123 | 0 | 127,682,407 | |
| rs1057518154 | 0 | 127,673,246 | |
| rs1057518167 | 0 | 127,653,775 | |
| rs1057518331 | 0 | 127,612,440 | |
| rs1057518985 | 0 | 127,673,233 | |
| rs1057518989 | 0 | 127,673,223 | |
| rs1057519501 | 0 | 127,672,093 | |
| rs1057519537 | 0 | 127,682,423 | |
| rs1057519538 | 0 | 127,651,622 | |
| rs1057519539 | 0 | 127,678,479 | |
| rs1057520544 | 0 | 127,682,547 | |
| rs1057520631 | 0 | 127,666,301 | |
| rs1057522982 | 0 | 127,678,429 | |
| rs1057523381 | 0 | 127,682,500 | |
| rs1057524795 | 0 | 127,666,245 | |
| rs1057524834 | 0 | 127,666,269 | |
| rs1060501722 | 0 | 127,678,505 | |
| rs1060501723 | 0 | 127,660,048 | |
| rs1060501724 | 0 | 127,661,161 | |
| rs1064793414 | 0 | 127,675,897 | |
| rs1064793984 | 0 | 127,651,649 | |
| rs1064794322 | 0 | 127,668,174 | |
| rs1064795999 | 0 | 127,666,211 | |
| rs1064796720 | 0 | 127,666,250 | |
| rs1064796989 | 0 | 127,661,196 | |
| rs1085307465 | 0 | 127,669,959 | |
| rs1085307900 | 0 | 127,653,734 | |
| rs1085307916 | 0 | 127,672,090 | |
| rs1085308022 | 0 | 127,666,197 | |
| rs112111568 | 0 | 127,665,245 | |
| rs121918317 | 8 | 127,682,489 | |
| rs121918318 | 8 | 127,663,314 | |
| rs121918319 | 8 | 127,676,722 | |
| rs121918320 | 8 | 127,660,034 | |
| rs121918321 | 8 | 127,675,855 | |
| rs587776641 | 8 | 127,653,797 | |
| rs587777310 | 8 | 127,668,132 | |
| rs587784453 | 0 | 127,666,236 | |
| rs587784454 | 8 | 127,666,256 | |
| rs587784455 | 0 | 127,663,208 | |
| rs727504173 | 8 | 127,672,117 | |
| rs749244650 | 0 | 127,682,465 | |
| rs751170778 | 8 | 127,668,083 | |
| rs786205598 | 0 | 127,668,159 | |
| rs794727792 | 8 | 127,661,140 | |
| rs794727970 | 0 | 127,666,206 | |
| rs796053350 | 0 | 127,651,653 | |
| rs796053351 | 0 | 127,653,713 | |
The STXB1 gene is located on chromosome 9 and encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4.GHR
Mutations in the STXB1 gene are apparently often de novo mutations, consistent with the sporadic occurrence of the disorder, and their mode of inheritance is considered dominant. Unaffected parents may be mosiac for the mutation in their germ cells (i.e. the progenitor cells of their sperm or eggs), according to one publication cited in OMIM.
