Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome
Introduction: Ohtahara syndrome (OS, OMIM #308350, ORPHA1934) is an early-onset epileptic encephalopathy (EOEE) characterised by spasms, intractable seizures, suppression-burst pattern on the electroencephalogram, and severe psychomotor retardation. Mutations in STXBP1 – a gene that codes for syntax...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier España
2016-10-01
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| Series: | Neurología (English Edition) |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2173580816300797 |