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.
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| Κύριοι συγγραφείς: | , |
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| Μορφή: | Βιβλίο |
| Έκδοση: |
Pediatric Neurology Briefs Publishers,
2014-03-01T00:00:00Z.
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| Διαθέσιμο Online: | Connect to this object online. |
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| Περίληψη: | 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. |
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| Περιγραφή τεκμηρίου: | 1043-3155 2166-6482 10.15844/pedneurbriefs-28-3-5 |