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Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara Syndrome and unique neuropathological findings
Mutations in SCN2A gene cause a variety of epilepsy syndromes. We report a novel SCN2A-associated epilepsy phenotype in monozygotic twins with tonic seizures soon after birth and a suppression-burst EEG pattern. We reviewed the medical records, EEG tracings, MRI, neuropathological findings, and perf...
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| 主要な著者: | , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2013
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3640694/ https://ncbi.nlm.nih.gov/pubmed/23550958 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/epi.12137 |
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