Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation
We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative. Mutation analysis of the PNPO gene revealed a nove...
Збережено в:
| Автори: | , , , , , , |
|---|---|
| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Elsevier
2016-03-01
|
| Серія: | Molecular Genetics and Metabolism Reports |
| Предмети: | |
| Онлайн доступ: | http://www.sciencedirect.com/science/article/pii/S2214426916300040 |
| Теги: |
Немає тегів, Будьте першим, хто поставить тег для цього запису!
|