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SCN1A Genetic Test for Dravet Syndrome (Severe Myoclonic Epilepsy of Infancy and its Clinical Subtypes) for use in the Diagnosis, Prognosis, Treatment and Management of Dravet Syndrome
Classic Dravet syndrome is also termed severe myoclonic epilepsy of infancy (SMEI). There are subtle phenotypic variants of Dravet which may have all the features of the syndrome except one, such as without myoclonic seizures, onset in the second year or without generalized spike and wave on EEG. Th...
Autores principales: | Stenhouse, Susan A.R., Ellis, Rachael, Zuberi, Sameer |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3644298/ https://www.ncbi.nlm.nih.gov/pubmed/23653348 http://dx.doi.org/10.1371/currents.eogt.c553b83d745dd79bfb61eaf35e522b0b |
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