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De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy
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 SCOPUS ORCID 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 SCOPUS ORCID Weiss Norbert 1978- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV SCOPUS RID ORCID Source document Molecular Brain. Vol. 14, no. 1 (2021), art. no. 126 Language eng - English Country GB - Great Britian Note open access URL URL link Document kind rozpis článkov z periodík (rbx) Citations WONG, Jennifer C. - BUTLER, Kameryn M. - SHAPIRO, Lindsey - THELIN, Jacquelyn T. - MATTISON, Kari A. - GARBER, Kathryn B. - GOLDENBERG, Paula C. - KUBENDRAN, Shobana - SCHAEFER, G. Bradley - ESCAYG, Andrew. Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease. In FRONTIERS IN PHARMACOLOGY, 2021, vol. 12, no., pp. Dostupné na: https://doi.org/10.3389/fphar.2021.748415. MUSANTE, L. - COSTA, P. - ZANUS, C. - FALETRA, F. - MURRU, F.M. - BIANCO, A.M. - LA BIANCA, M. - RAGUSA, G. - ATHANASAKIS, E. - D'ADAMO, A.P. - CARROZZI, M. - GASPARINI, P. The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge. In GENES. MAR 2022, vol. 13, no. 3. Dostupné na: https://doi.org/10.3390/genes13030500. ZHOU, X. - CHEN, Z.Q. - XIAO, L. - ZHONG, Y.T. - LIU, Y. - WU, J.H. - TAO, H. Intracellular calcium homeostasis and its dysregulation underlying epileptic seizures. In SEIZURE-EUROPEAN JOURNAL OF EPILEPSY. ISSN 1059-1311, DEC 2022, vol. 103, p. 126-136. Dostupné na: https://doi.org/10.1016/j.seizure.2022.11.007. AL ANAZI, A.H. - AMMAR, A.S. - AL-HAJJ, M. - CYRUS, C. - ALJAAFARI, D. - KHODA, I. - ABDELFATAH, A.K. - ALSULAIMAN, A.A. - ALANAZI, F. - ALANAZI, R. - GANDLA, D. - LAD, H. - BARAYAN, S. - KEATING, B.J. - AL-ALI, A.K. Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci. In HUMAN GENOMICS. ISSN 1473-9542, DEC 20 2022, vol. 16, no. 1. Dostupné na: https://doi.org/10.1186/s40246-022-00444-6. 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 Registered in WOS Registered in SCOPUS DOI 10.1186/s13041-021-00838-y 
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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 rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore N rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2021 2020 4.041 Q2 1.748 Q2
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