Phenotypic variability from benign infantile epilepsy to Ohtahara syndrome associated with a novel mutation in SCN2A
Mutations in <i>SCN2A</i> 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 <i>SCN2A</i> missen...
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| Hauptverfasser: | , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
July 19, 2016
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| In: |
Molecular syndromology
Year: 2016, Jahrgang: 7, Heft: 4, Pages: 182-188 |
| ISSN: | 1661-8777 |
| DOI: | 10.1159/000447526 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1159/000447526 Verlag, lizenzpflichtig, Volltext: https://www.karger.com/Article/FullText/447526 
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| Verfasserangaben: | Steffen Syrbe, Boris S. Zhorov, Astrid Bertsche, Matthias K. Bernhard, Frauke Hornemann, Ulrike Mütze, Jessica Hoffmann, Konstanze Hörtnagel, Wieland Kiess, Franz W. Hirsch, Johannes R. Lemke, Andreas Merkenschlager |
| Zusammenfassung: | Mutations in <i>SCN2A</i> 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 <i>SCN2A</i> missense variant c.1147C>G, p.Q383E affecting a residue proximal to the highly conserved selectivity filter in the P-loop of the voltage-gated sodium channel (Na<sub>v</sub>1.2). All 3 individuals presented with seizures in early infancy. However, there were striking differences in the spectrum of clinical presentations, ranging from BFNIS to OS. A change of ion selectivity of Na<sub>v</sub>1.2 is considered to be the potential pathomechanism underlying this Na<sub>v</sub>1.2 channel dysfunction. The observation of benign and severe phenotypes due to an identical mutation within one family contradicts the hypothesis of different modes of inheritance as a mandatory feature discriminating BFNIS from <i>SCN2A</i> encephalopathy. |
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| Beschreibung: | Gesehen am 26.05.2020 |
| Beschreibung: | Online Resource |
| ISSN: | 1661-8777 |
| DOI: | 10.1159/000447526 |