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| pubmed-article:18413471 | lifeskim:mentions | umls-concept:C0439849 | lld:lifeskim |
| pubmed-article:18413471 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:18413471 | lifeskim:mentions | umls-concept:C0039082 | lld:lifeskim |
| pubmed-article:18413471 | lifeskim:mentions | umls-concept:C1419856 | lld:lifeskim |
| pubmed-article:18413471 | lifeskim:mentions | umls-concept:C0205396 | lld:lifeskim |
| pubmed-article:18413471 | lifeskim:mentions | umls-concept:C0445223 | lld:lifeskim |
| pubmed-article:18413471 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:18413471 | lifeskim:mentions | umls-concept:C1552599 | lld:lifeskim |
| pubmed-article:18413471 | lifeskim:mentions | umls-concept:C1704787 | lld:lifeskim |
| pubmed-article:18413471 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:18413471 | lifeskim:mentions | umls-concept:C0332240 | lld:lifeskim |
| pubmed-article:18413471 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:18413471 | pubmed:dateCreated | 2008-4-16 | lld:pubmed |
| pubmed-article:18413471 | pubmed:abstractText | Sodium channel alpha 1 subunit gene, SCN1A, is the gene encoding the neuronal voltage-gated sodium channel alpha 1 subunit (Na(v)1.1) and is mutated in different forms of epilepsy. Mutations in this gene were observed in more than 70% of patients with severe myoclonic epilepsy of infancy (SMEI) and were also found in different types of infantile epileptic encephalopathy. | lld:pubmed |
| pubmed-article:18413471 | pubmed:language | eng | lld:pubmed |
| pubmed-article:18413471 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18413471 | pubmed:citationSubset | AIM | lld:pubmed |
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| pubmed-article:18413471 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:18413471 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:18413471 | pubmed:issn | 1538-3687 | lld:pubmed |
| pubmed-article:18413471 | pubmed:author | pubmed-author:BresolinNereo... | lld:pubmed |
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| pubmed-article:18413471 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:18413471 | pubmed:volume | 65 | lld:pubmed |
| pubmed-article:18413471 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:18413471 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:18413471 | pubmed:pagination | 489-94 | lld:pubmed |
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| pubmed-article:18413471 | pubmed:year | 2008 | lld:pubmed |
| pubmed-article:18413471 | pubmed:articleTitle | Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. | lld:pubmed |
| pubmed-article:18413471 | pubmed:affiliation | Clinical Neurophysiology Unit, E. Medea Scientific Institute, Lecco, Italy. | lld:pubmed |
| pubmed-article:18413471 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:18413471 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:6323 | entrezgene:pubmed | pubmed-article:18413471 | lld:entrezgene |
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| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:18413471 | lld:pubmed |
