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Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability
OBJECTIVE: To report new sporadic cases and 1 family with epilepsy of infancy with migrating focal seizures (EIMFSs) due to KCNT1 gain-of-function and to assess therapies' efficacy including quinidine. METHODS: We reviewed the clinical, EEG, and molecular data of 17 new patients with EIMFS and...
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| Publicado no: | Neurol Genet |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6878841/ https://ncbi.nlm.nih.gov/pubmed/31872048 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000363 |
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