| Individual ID | 22151702.01 |
|---|---|
| Pubmed ID | 22151702 |
| Whose mosaic mutation | Father |
| Phenotypic Category | 1 |
| Age | 11.0 ~ 12.0 |
| Number of affected children | 2 ( male: 2; ) |
| Disease | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; TYPE 2(view all the variants in this disease) |
| OMIM ID | 604403 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 129 | 6323 | SCN1A | 2 | 166850661 | 166850661 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; TYPE 2 | ABI3730 |