loading...| Preferred Name |
Pyridoxine-dependent epilepsy |
|
| Synonyms |
Pyridoxine dependency with seizures |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C536254 |
|
| altLabel |
Pyridoxine dependency with seizures Aasa Dehydrogenase Deficiency Pyridoxine dependency Epilepsy, Pyridoxine-Dependent Vitamin B6-Dependent Seizures Pyridoxine-Dependent Seizures |
|
| cui |
C1849508 |
|
| HM |
D004827 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
122 |
|
| MMR |
20150818 |
|
| notation |
C536254 |
|
| prefLabel |
Pyridoxine-dependent epilepsy |
|
| SC |
3 |
|
| Scope Statement |
A hereditary combination of various seizure types that occur in neonates and are unresponsive to standard ANTICONVULSANT AGENTS. They can be treated only by the immediate administration of PYRIDOXINE HYDROCHLORIDE. This treatment must continue or the seizures will re-appear. Some patients show developmental delay. Prevalence is 1 in 400,000 to 700,000 births. Germline mutations in the ALDH7A1 gene have been identified. OMIM: 266100 |
|
| TERMUI |
T842365 T738750 T738749 T738751 T805746 T842366 T805747 |
|
| TH |
OMIM (2013) GHR (2014) ORD (2010) |
|
| tui |
T047 |