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Treatable Cause of Refractory Seizures in an Infant with a Novel Mutation
Pyridoxine-dependent epilepsy is a treatable cause of epilepsy, which is very well known. It is most commonly caused by mutations in ALDH7A1 and PNPO genes. A 5-month-old infant presented with refractory seizures. Magnetic resonance imaging (MRI) brain was normal. Clinical exome sequencing showed a...
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| Опубликовано в: : | J Pediatr Neurosci |
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| Главные авторы: | , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Wolters Kluwer - Medknow
2021
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8276961/ https://ncbi.nlm.nih.gov/pubmed/34316313 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/jpn.JPN_68_20 |
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