Functional correlates of clinical phenotype and severity in recurrent SCN2A variants

التفاصيل البيبلوغرافية
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

الوصف
تدمد:	23993642
DOI:	10.1038/s42003-022-03454-1