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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...

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Detalles Bibliográficos
Autores principales: Stenhouse, Susan A.R., Ellis, Rachael, Zuberi, Sameer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
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