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...
Gespeichert in:
| Hauptverfasser: | , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
July 19, 2016
|
| 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 
|
| 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 |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1698835159 | ||
| 003 | DE-627 | ||
| 005 | 20220818100519.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 200526s2016 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1159/000447526 |2 doi | |
| 035 | |a (DE-627)1698835159 | ||
| 035 | |a (DE-599)KXP1698835159 | ||
| 035 | |a (OCoLC)1341326390 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Syrbe, Steffen |d 1976- |e VerfasserIn |0 (DE-588)133581926 |0 (DE-627)691603138 |0 (DE-576)272999482 |4 aut | |
| 245 | 1 | 0 | |a Phenotypic variability from benign infantile epilepsy to Ohtahara syndrome associated with a novel mutation in SCN2A |c 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 |
| 264 | 1 | |c July 19, 2016 | |
| 300 | |a 7 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 26.05.2020 | ||
| 520 | |a 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. | ||
| 700 | 1 | |a Mütze, Ulrike |d 1979- |e VerfasserIn |0 (DE-588)135567963 |0 (DE-627)693593024 |0 (DE-576)279666438 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Molecular syndromology |d Basel : Karger, 2010 |g 7(2016), 4, Seite 182-188 |h Online-Ressource |w (DE-627)623180839 |w (DE-600)2546218-0 |w (DE-576)325341524 |x 1661-8777 |7 nnas |a Phenotypic variability from benign infantile epilepsy to Ohtahara syndrome associated with a novel mutation in SCN2A |
| 773 | 1 | 8 | |g volume:7 |g year:2016 |g number:4 |g pages:182-188 |g extent:7 |a Phenotypic variability from benign infantile epilepsy to Ohtahara syndrome associated with a novel mutation in SCN2A |
| 856 | 4 | 0 | |u https://doi.org/10.1159/000447526 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://www.karger.com/Article/FullText/447526 |x Verlag |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20200526 | ||
| 993 | |a Article | ||
| 994 | |a 2016 | ||
| 998 | |g 135567963 |a Mütze, Ulrike |m 135567963:Mütze, Ulrike |d 910000 |d 910500 |e 910000PM135567963 |e 910500PM135567963 |k 0/910000/ |k 1/910000/910500/ |p 6 | ||
| 998 | |g 133581926 |a Syrbe, Steffen |m 133581926:Syrbe, Steffen |d 910000 |d 910500 |e 910000PS133581926 |e 910500PS133581926 |k 0/910000/ |k 1/910000/910500/ |p 1 |x j | ||
| 999 | |a KXP-PPN1698835159 |e 3671313412 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"relHost":[{"title":[{"title_sort":"Molecular syndromology","title":"Molecular syndromology"}],"note":["Gesehen am 04.04.2019"],"type":{"media":"Online-Ressource","bibl":"periodical"},"pubHistory":["1.2010 -"],"physDesc":[{"extent":"Online-Ressource"}],"language":["eng"],"origin":[{"dateIssuedDisp":"2010-","publisher":"Karger","dateIssuedKey":"2010","publisherPlace":"Basel"}],"id":{"eki":["623180839"],"issn":["1661-8777"],"zdb":["2546218-0"]},"part":{"volume":"7","pages":"182-188","text":"7(2016), 4, Seite 182-188","extent":"7","year":"2016","issue":"4"},"recId":"623180839","disp":"Phenotypic variability from benign infantile epilepsy to Ohtahara syndrome associated with a novel mutation in SCN2AMolecular syndromology"}],"note":["Gesehen am 26.05.2020"],"name":{"displayForm":["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"]},"recId":"1698835159","id":{"doi":["10.1159/000447526"],"eki":["1698835159"]},"origin":[{"dateIssuedDisp":"July 19, 2016","dateIssuedKey":"2016"}],"physDesc":[{"extent":"7 S."}],"language":["eng"],"type":{"media":"Online-Ressource","bibl":"article-journal"},"person":[{"display":"Syrbe, Steffen","given":"Steffen","role":"aut","family":"Syrbe"},{"display":"Mütze, Ulrike","family":"Mütze","given":"Ulrike","role":"aut"}],"title":[{"title":"Phenotypic variability from benign infantile epilepsy to Ohtahara syndrome associated with a novel mutation in SCN2A","title_sort":"Phenotypic variability from benign infantile epilepsy to Ohtahara syndrome associated with a novel mutation in SCN2A"}]} | ||
| SRT | |a SYRBESTEFFPHENOTYPIC1920 | ||