Folinic Acid Responsive Epilepsy in Ohtahara Syndrome
Investigators at Queen Mary Hospital, Hong Kong, report a case of Ohtahara syndrome with transient folinic acid responsiveness but without evidence of antiquitin dysfunction in a girl later found to have a known STXBP1 mutation.
| الحاوية / القاعدة: | Pediatric Neurology Briefs |
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| المؤلفون الرئيسيون: | , |
| التنسيق: | مقال |
| اللغة: | الإنجليزية |
| منشور في: |
Pediatric Neurology Briefs Publishers
2014-03-01
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| الموضوعات: | |
| الوصول للمادة أونلاين: | https://www.pediatricneurologybriefs.com/articles/186 |