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A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients
Title A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients Author Klučková Daniela Co-authors Kolníková Miriam Lacinová Ľubica 1959- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV SCOPUS ORCID Jurkovičová Tarabová Bohumila 1979- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV SCOPUS ORCID Foltan Tomáš Demko Viktor Kádaši Ľudevít 1952- SAVUKTRA ; SAVBIOMED - Ústav klinického a translačného výskumu BMC SAV ORCID Ficek Andrej Šoltýsová Andrea 1980- SAVUKTRA ; SAVBIOMED - Ústav klinického a translačného výskumu BMC SAV Source document Scientific Reports. Vol. 10, no. 1 (2020), art. no. 10288 Language eng - English Country GB - Great Britian Note open access URL URL link Document kind rozpis článkov z periodík (rbx) Citations BOTHOS, E. - NTOUMOU, E. - KELAIDONI, K. - ROUKAS, D. - DRAKOULIS, N. - PAPASAVVA, M. - KARAKOSTIS, F. A. - MOULOS, P. - KARAKOSTIS, K. Clinical pharmacogenomics in action: design, assessment and implementation of a novel pharmacogenetic panel supporting drug selection for diseases of the central nervous system (CNS). In JOURNAL OF TRANSLATIONAL MEDICINE, 2021, vol. 19, no. 1, pp. ADEMUWAGUN, Ibitayo Abigail - ROTIMI, Solomon Oladapo - SYRBE, Steffen - AJAMMA, Yvonne Ukamaka - ADEBIYI, Ezekiel. Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions. In FRONTIERS IN NEUROLOGY. ISSN 1664-2295, 2021, vol. 12, no., pp. MEISLER, Miriam H. - HILL, Sophie F. - YU, Wenxi. Sodium channelopathies in neurodevelopmental disorders. In NATURE REVIEWS NEUROSCIENCE. ISSN 1471-003X, 2021, vol. 22, no. 3, pp. 152-166. LAYER, Nikolas - SONNENBERG, Lukas - GONZALEZ, Emilio Pardo - BENDA, Jan - HEDRICH, Ulrike B. S. - LERCHE, Holger - KOCH, Henner - WUTTKE, Thomas. Dravet Variant SCN1A(A1783V) Impairs Interneuron Firing Predominantly by Altered Channel Activation. In FRONTIERS IN CELLULAR NEUROSCIENCE, 2021, vol. 15, no., pp. Dostupné na: https://doi.org/10.3389/fncel.2021.754530. HOFFMAN-ZACHARSKA, Dorota - NUROWSKA, Ewa - SZULCZYK, Bartlomiej - JUREK, Marta - MILEWSKI, Michal - GORKA-SKOCZYLAS, Paulina - LIPIEC, Agata - SZCZEPANIK, Elzbieta. LOF or GOF to which extend functional studies may be helpful in understanding SCN1A mutations. In EPILEPSIA. ISSN 0013-9580, 2021, vol. 62, no., pp. 224-225. SPARBER, Peter - MIKHAYLOVA, Svetlana - GALKINA, Varvara - ITKIS, Yulia - SKOBLOV, Mikhail. Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome. In FRONTIERS IN NEUROLOGY. ISSN 1664-2295, 2021, vol. 12, no., pp. Dostupné na: https://doi.org/10.3389/fneur.2021.761892. SEDERMAN, R. - OLDHAM, M. - MAHALINGAM, R. - SULLIVAN, J. Estimating US Prevalence and Diagnosis Rates for Rare Developmental and Epileptic Encephalopathies (DEEs). In ANNALS OF NEUROLOGY. ISSN 0364-5134, OCT 2022, vol. 92, SI, p. S31-S32. ZAYAT, V. - SZLENDAK, R. - HOFFMAN-ZACHARSKA, D. Concise Review: Stem Cell Models of SCN1A-Related Encephalopathies-Current Perspective and Future Therapies. In CELLS. OCT 2022, vol. 11, no. 19. Dostupné na: https://doi.org/10.3390/cells11193119. FANG, Z.X. - XIE, L.L. - LI, X. - GUI, J.X. - YANG, X.Y. - HAN, Z.Y. - LUO, H.Y. - HUANG, D.S. - CHEN, H.S. - CHENG, L. - JIANG, L. Severe epilepsy phenotype with SCN1A missense variants located outside the sodium channel core region: Relationship between functional results and clinical phenotype. In SEIZURE-EUROPEAN JOURNAL OF EPILEPSY. ISSN 1059-1311, OCT 2022, vol. 101, p. 109-116. Dostupné na: https://doi.org/10.1016/j.seizure.2022.07.018. ZONTEK, A. - PAPROCKA, J. Gastrointestinal and Autonomic Symptoms-How to Improve the Diagnostic Process in Panayiotopoulos Syndrome?. In CHILDREN-BASEL. JUN 2022, vol. 9, no. 6. Dostupné na: https://doi.org/10.3390/children9060814. CORNEJO-SANCHEZ, D.M. - ACHARYA, A. - BHARADWAJ, T. - MARIN-GOMEZ, L. - PEREIRA-GOMEZ, P. - NOUEL-SAIED, L.M. - NICKERSON, D.A. - BAMSHAD, M.J. - MEFFORD, H.C. - SCHRAUWEN, I. - CARRIZOSA-MOOG, J. - CORNEJO-OCHOA, W. - PINEDA-TRUJILLO, N. - LEAL, S.M. SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families. In GENES. MAY 2022, vol. 13, no. 5. Dostupné na: https://doi.org/10.3390/genes13050754. MARTIN, P. - KUMMERLE, A. Motor and behavioral phenotype of Dravet syndrome in adulthood. In EPILEPSY & BEHAVIOR. ISSN 1525-5050, APR 2022, vol. 129. Dostupné na: https://doi.org/10.1016/j.yebeh.2022.108601. AKBAR, F. - SALEH, R. - KIRMANI, S. - CHAND, P. - MUKHTIAR, K. - JAN, F. - KUMAR, R. - IBRAHIM, S. Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country. In EPILEPSY & BEHAVIOR REPORTS. 2022, vol. 20. Dostupné na: https://doi.org/10.1016/j.ebr.2022.100575. CESKA, K. - DANHOFER, P. - HORAK, O. - SPANELOVA, K. - KOLAR, S. - OSLEJSKOVA, H. - AULICKA, S. Phenotypic spectrum of the SCN1A mutation (from febrile seizures to Dravet syndrome). In BRATISLAVA MEDICAL JOURNAL-BRATISLAVSKE LEKARSKE LISTY. ISSN 0006-9248, 2022, vol. 123, no. 7, p. 483-486. Dostupné na: https://doi.org/10.4149/BLL_2022_076. MATRICARDI, S. - CESTèLE, S. - TRIVISANO, M. - KASSABIAN, B. - LEROUDIER, N. - VITTORINI, R. - NOSADINI, M. - CESARONI, E. - SILIQUINI, S. - MARINACCIO, C. - LONGARETTI, F. - PODESTà, B. - OPERTO, F.F. - LUISI, C. - SARTORI, S. - BONIVER, C. - SPECCHIO, N. - VIGEVANO, F. - MARINI, C. - MANTEGAZZA, M. Gain of function iSCN1A /idisease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication. In EPILEPSIA. ISSN 0013-9580, MAY 2023, vol. 64, no. 5, p. 1331-1347. Dostupné na: https://doi.org/10.1111/epi.17509. BRYSON, A. - PETROU, S. iSCN1A/i channelopathies: Navigating from genotype to neural circuit dysfunction. In FRONTIERS IN NEUROLOGY. ISSN 1664-2295, APR 17 2023, vol. 14. Dostupné na: https://doi.org/10.3389/fneur.2023.1173460. JIANG, L.L. - BI, S.H. - LIN, L. - HE, F. - DENG, F. Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic iUGDH/i mutations. In MOLECULAR GENETICS & GENOMIC MEDICINE. ISSN 2324-9269, DEC 2023, vol. 11, no. 12. Dostupné na: https://doi.org/10.1002/mgg3.2269. SPARBER, P. - SHAROVA, M. - DAVYDENKO, K. - PYANKOV, D. - FILATOVA, A. - SKOBLOV, M. Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing. In BRAIN. ISSN 0006-8950, APR 4 2024, vol. 147, no. 4, p. 1278-1293. Dostupné na: https://doi.org/10.1093/brain/awad383. TERALI, K. - TüRKYILMAZ, A. - SAGER, S.G. - ÇEBI, A.H. Prediction of molecular phenotypes for novel iSCN1A/i variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome. In CTS-CLINICAL AND TRANSLATIONAL SCIENCE. ISSN 1752-8054, JAN 2024, vol. 17, no. 1. Dostupné na: https://doi.org/10.1111/cts.13679. CANDELA, R.C. RARE DISEASES WITH EPILEPTIC SEIZURES. In BOLETIN DE PEDIATRIA. ISSN 0214-2597, 2024, vol. 64, no. 267, p. 39-43. WITKOWSKI, G. - SZULCZYK, B. - NUROWSKA, E. - JUREK, M. - PASIERSKI, M. - LIPIEC, A. - CHARZEWSKA, A. - DAWIDZIUK, M. - MILEWSKI, M. - OWSIAK, S. - ROLA, R. - JAROSZ, H.S. - HOFFMAN-ZACHARSKA, D. Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes. In INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. ISSN 1661-6596, FEB 2024, vol. 25, no. 3. Dostupné na: https://doi.org/10.3390/ijms25031745. GALLAGHER, D. - PéREZ-PALMA, E. - BRUENGER, T. - GHANTY, I. - BRILSTRA, E. - CEULEMANS, B. - CHEMALY, N. - DE LANGE, I. - DEPIENNE, C. - GUERRINI, R. - MEI, D. - MOLLER, R.S. - NABBOUT, R. - REGAN, B.M. - SCHNEIDER, A.L. - SCHEFFER, I.E. - SCHOONJANS, A.S. - SYMONDS, J.D. - WECKHUYSEN, S. - ZUBERI, S.M. - LAL, D. - BRUNKLAUS, A. Genotype-phenotype associations in 1018 individuals with iSCN1A/i-related epilepsies. In EPILEPSIA. ISSN 0013-9580, APR 2024, vol. 65, no. 4, p. 1046-1059. Dostupné na: https://doi.org/10.1111/epi.17882. Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2020 Registered in WOS Registered in SCOPUS Registered in CCC DOI 10.1038/s41598-020-67215-y 
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File name Access Size Downloaded Type License A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients.pdf available 3.3 MB 6 Publisher's version rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2020 2019 3.998 Q1 1.341 Q1
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