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De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing
The voltage-gated Kv2.1 potassium channel encoded by KCNB1 produces the major delayed rectifier potassium current in pyramidal neurons. Recently, de novo heterozygous missense KCNB1 mutations have been identified in three patients with epileptic encephalopathy and a patient with neurodevelopmental d...
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| Publicat a: | Sci Rep |
|---|---|
| Autors principals: | , , , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4609934/ https://ncbi.nlm.nih.gov/pubmed/26477325 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep15199 |
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