| Individual ID | 16541393.02 |
|---|---|
| Pubmed ID | 16541393 |
| Whose mosaic mutation | Father |
| Phenotypic Category | 1 |
| Age | 0.42 ~ 0.5 |
| Number of affected children | 2 ( male: 1; female: 1; ) |
| Disease | Severe myoclonic epilepsy of infancy(view all the variants in this disease) |
| OMIM ID | 607208 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 444 | 6323 | SCN1A | 2 | 166905461 | 166905461 | Severe myoclonic epilepsy of infancy | TaqMAMA |