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GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?
Benova B, Sanders MWCB, Uhrova-Meszarosova A, Belohlavkova A, Hermanovska B, Novak V, Stanek D, Vlckova M, Zamecnik J, Aronica E, Braun KPJ, Koeleman BPC, Jansen FE, Krsek P. Benova B, et al. Among authors: vlckova m. Eur J Paediatr Neurol. 2021 Jan;30:88-96. doi: 10.1016/j.ejpn.2020.12.001. Epub 2021 Jan 6. Eur J Paediatr Neurol. 2021. PMID: 33461085
Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.
Neupauerová J, Štěrbová K, Vlčková M, Sebroňová V, Maříková T, Krůtová M, David S, Kršek P, Žaliová M, Seeman P, Laššuthová P. Neupauerová J, et al. Among authors: vlckova m. Genet Test Mol Biomarkers. 2017 Oct;21(10):613-618. doi: 10.1089/gtmb.2017.0110. Epub 2017 Sep 5. Genet Test Mol Biomarkers. 2017. PMID: 28872899
Polygenic burden in focal and generalized epilepsies.
Leu C, Stevelink R, Smith AW, Goleva SB, Kanai M, Ferguson L, Campbell C, Kamatani Y, Okada Y, Sisodiya SM, Cavalleri GL, Koeleman BPC, Lerche H, Jehi L, Davis LK, Najm IM, Palotie A, Daly MJ, Busch RM; Epi25 Consortium; Lal D. Leu C, et al. Brain. 2019 Nov 1;142(11):3473-3481. doi: 10.1093/brain/awz292. Brain. 2019. PMID: 31608925 Free PMC article.
Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome.
Sumerauer D, Krskova L, Vicha A, Misove A, Mamatjan Y, Jencova P, Vlckova M, Slamova L, Vanova K, Liby P, Taborsky J, Koblizek M, Klubal R, Kyncl M, Zadeh G, Stary J, Zamecnik J, Ramaswamy V, Zapotocky M. Sumerauer D, et al. Among authors: vlckova m. Acta Neuropathol. 2020 Apr;139(4):795-797. doi: 10.1007/s00401-019-02118-5. Epub 2020 Jan 3. Acta Neuropathol. 2020. PMID: 31897644 No abstract available.
Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration.
Belohlavkova A, Sterbova K, Betzler C, Burkhard S, Panzer A, Wolff M, Lassuthova P, Vlckova M, Kyncl M, Benova B, Jahodova A, Kudr M, Goerg M, Dusek P, Seeman P, Kluger G, Krsek P. Belohlavkova A, et al. Among authors: vlckova m. Eur J Paediatr Neurol. 2020 Sep;28:81-88. doi: 10.1016/j.ejpn.2020.07.010. Epub 2020 Aug 4. Eur J Paediatr Neurol. 2020. PMID: 32811771
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations.
Stevelink R, Luykx JJ, Lin BD, Leu C, Lal D, Smith AW, Schijven D, Carpay JA, Rademaker K, Rodrigues Baldez RA, Devinsky O, Braun KPJ, Jansen FE, Smit DJA, Koeleman BPC; International League Against Epilepsy Consortium on Complex Epilepsies; Epi25 Collaborative. Stevelink R, et al. Epilepsia. 2021 Jul;62(7):1518-1527. doi: 10.1111/epi.16922. Epub 2021 May 18. Epilepsia. 2021. PMID: 34002374 Free PMC article.
Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.
Straka B, Hermanovska B, Krskova L, Zamecnik J, Vlckova M, Balascakova M, Tesner P, Jezdik P, Tichy M, Kyncl M, Musilova A, Lassuthova P, Marusic P, Krsek P. Straka B, et al. Among authors: vlckova m. Neurol Genet. 2022 Sep 27;8(5):e200032. doi: 10.1212/NXG.0000000000200032. eCollection 2022 Oct. Neurol Genet. 2022. PMID: 36324633 Free PMC article.
98 results