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Title De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy Author Stringer Robin N. Co-authors Jurkovičová Tarabová Bohumila 1979- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Souza Ivana A. Ibrahim Judy Vacík Tomáš Fathalla Waseem Mahmoud Hertecant Jozef Zamponi Gerald W. Lacinová Ľubica 1959- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Weiss Norbert 1978- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Source document Molecular Brain. Vol. 14, no. 1 (2021), art. no. 126 Category ADMA - Scientific papers in foreign impacted journals registered in Web of Sciences or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2021 DOI 10.1186/s13041-021-00838-y URL URL link File name Access Size Downloaded Type License De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.pdf available 1.6 MB 2 Publisher's version 
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Title A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Ca(v)3.2 T-type channel activity Author Stringer Robin N. Co-authors Jurkovičová Tarabová Bohumila 1979- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Huang Sun Haji-Ghassemi Omid Idoux Romane Liashenko Anna Souza Ivana A. Rzhepetskyy Yuriy Lacinová Ľubica 1959- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Van Petegem Filip Zamponi Gerald W. Pamphlett Roger Weiss Norbert 1978- Action Vega č. 2/0143/19. Napäťovo závislé vápnikové kanály v nocicepcii : 01.01.2019 - 31.12.2021 Source document . Vol. 13, iss. 1 (2020), art. no. 33 Molecular Brain Category ADMA - Scientific papers in foreign impacted journals registered in Web of Sciences or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2020 DOI 10.1186/s13041-020-00577-6 File name Access Size Downloaded Type License A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Cav3.2 T-type channel activity.pdf available 2.4 MB 0 Publisher's version article