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When Should Clinicians Order Genetic Testing for Dravet Syndrome?

The role of neuronal voltage-gated sodium channel, α-1 subunit (SCN1A) gene mutations in Dravet syndrome is well-established. With a broader phenotype than initially described, some patients lack features of Dravet syndrome as defined by the International League Against Epilepsy. We evaluated the pr...

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Autors principals: Fountain-Capal, Jamie K., Holland, Katherine D., Gilbert, Donald L., Hallinan, Barbara E.
Format: Artigo
Idioma:Inglês
Publicat: 2011
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3520060/
https://ncbi.nlm.nih.gov/pubmed/22000312
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2011.08.001
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