تحميل...
De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy
Severe myoclonic epilepsy of infancy (SMEI) is a rare disorder that occurs in isolated patients. The disease is characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizu...
محفوظ في:
| المؤلفون الرئيسيون: | , , , , , |
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| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
The American Society of Human Genetics
2001
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| الموضوعات: | |
| الوصول للمادة أونلاين: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1226119/ https://ncbi.nlm.nih.gov/pubmed/11359211 |
| الوسوم: |
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