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- 1.0545025 - ÚOCHB 2022 RIV GB eng J - Journal Article
Stringer, Robin Nicholas - Jurkovicova-Tarabova, B. - Souza, I. A. - Ibrahim, J. - Vacík, T. - Fathalla, W. M. - Hertecant, J. - Zamponi, G. W. - Lacinová, L. - Weiss, Norbert
De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.
Molecular Brain. Roč. 14, č. 1 (2021), č. článku 126. E-ISSN 1756-6606
Institutional support: RVO:61388963
Keywords : ion channels * channelopathy * calcium channel * CACNA1H * Ca(v)32 channel * sodium channel * SCN8A * Na(v)1.6 channel * epilepsy * encephalopathy
OECD category: Biochemistry and molecular biology
Impact factor: 4.399, year: 2021
Method of publishing: Open access
https://doi.org/10.1186/s13041-021-00838-y
Permanent Link: http://hdl.handle.net/11104/0321802