دورية أكاديمية
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants
| العنوان: | Functional correlates of clinical phenotype and severity in recurrent SCN2A variants |
|---|---|
| المؤلفون: | Géza Berecki, Katherine B. Howell, Jacqueline Heighway, Nelson Olivier, Jill Rodda, Isabella Overmars, Danique R. M. Vlaskamp, Tyson L. Ware, Simone Ardern-Holmes, Gaetan Lesca, Michael Alber, Pierangelo Veggiotti, Ingrid E. Scheffer, Samuel F. Berkovic, Markus Wolff, Steven Petrou |
| المصدر: | Communications Biology, Vol 5, Iss 1, Pp 1-13 (2022) |
| بيانات النشر: | Nature Portfolio, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Biology (General) |
| مصطلحات موضوعية: | Biology (General), QH301-705.5 |
| الوصف: | A comprehensive biophysical analysis of disease-associated mutations in the voltage-gated sodium channel gene, SCN2A, suggests that dynamic action potential clamp may be a better predictor than voltage clamp of how these mutations alter neuronal excitability, though other approaches are needed to predict severity. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2399-3642 |
| العلاقة: | https://doaj.org/toc/2399-3642Test |
| DOI: | 10.1038/s42003-022-03454-1 |
| الوصول الحر: | https://doaj.org/article/7e36edaad8f740ddbb8634f082580efcTest |
| رقم الانضمام: | edsdoj.7e36edaad8f740ddbb8634f082580efc |
| قاعدة البيانات: | Directory of Open Access Journals |
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