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Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy
Mutations of the voltage-gated sodium channel SCN8A have been identified in approximately 1% of nearly 1,500 children with early-infantile epileptic encephalopathies (EIEE) who have been tested by DNA sequencing. EIEE caused by mutation of SCN8A is designated EIEE13 (OMIM #614558). Affected children...
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| 出版年: | Front Neurol |
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| 主要な著者: | , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Frontiers Media S.A.
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4432670/ https://ncbi.nlm.nih.gov/pubmed/26029160 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2015.00104 |
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