Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A

Mutations in SCN2A have been associated with benign familial neonatal-infantile seizures (BFNIS) as well as infantile-onset epileptic encephalopathy, such as Ohtahara syndrome (OS). We describe a family with 3 affected individuals carrying the novel SCN2A missense variant c.1147C>G, p.Q383E affec...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Syrbe, Steffen, Zhorov, Boris S., Bertsche, Astrid, Bernhard, Matthias K., Hornemann, Frauke, Mütze, Ulrike, Hoffmann, Jessica, Hörtnagel, Konstanze, Kiess, Wieland, Hirsch, Franz W., Lemke, Johannes R., Merkenschlager, Andreas
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2016
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5073623/
https://ncbi.nlm.nih.gov/pubmed/27781028
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000447526
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