Pyridoxal dependent epilepsy (Q41204): Difference between revisions
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Revision as of 07:16, 13 August 2026
Pyridoxal 5-phosphate dependent epilepsy usually presents with neonatal intractable seizures and is diagnosed by cerebrospinal fluid (CSF) analysis, gene testing, and clinical response. The majority of patients have pyridoxamine 5'-phosphate oxidase (PNPO) gene disease causing mutations. Early diagnosis and effective treatment can lead to a relatively favourable neurodevelopmental outcome.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 8A61.00 |
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| English | Pyridoxal dependent epilepsy |
Pyridoxal 5-phosphate dependent epilepsy usually presents with neonatal intractable seizures and is diagnosed by cerebrospinal fluid (CSF) analysis, gene testing, and clinical response. The majority of patients have pyridoxamine 5'-phosphate oxidase (PNPO) gene disease causing mutations. Early diagnosis and effective treatment can lead to a relatively favourable neurodevelopmental outcome. |
