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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...
Gespeichert in:
Veröffentlicht in: | Mol Syndromol |
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Hauptverfasser: | , , , , , , , , , , , |
Format: | Artigo |
Sprache: | Inglês |
Veröffentlicht: |
S. Karger AG
2016
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Schlagworte: | |
Online Zugang: | 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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