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Neonatal epileptic seizures (usually with burst-suppression) and any unexplained refractory epilepsy up to the age of 2 years at onset | Neonatal epileptic seizures (usually with burst-suppression) and any unexplained refractory epilepsy up to the age of 2 years at onset | ||
==== Notes ==== | ==== Notes ==== | ||
- | * increased urinary AASA Supports | + | * increased urinary AASA supports |
* α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition. | * α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition. | ||
* Folinic responsive seizures and PDS are allelic, and caused by mutations in the [[https:// | * Folinic responsive seizures and PDS are allelic, and caused by mutations in the [[https:// |