Lucie Sedlackova, MSc, PhD
researcher, bioanalyst for clinical genetics
lucie.sedlackova@lfmotol.cuni.cz
Neurogenetics Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital
Scientific background
Currently, I am involved in the diagnosis and research of molecular genetic causes of early and severe epilepsy and epileptic encephalopathy using gene testing by exome sequencing. My role is to evaluate the data obtained from NGS examination and correlate the found genotype with the phenotype of patients.
Research interests
My research interests focus on the identification of molecular genetic causes of early and severe epilepsies and epileptic encephalopathies in patients whose previous targeted NGS testing with a selected gene panel has failed to identify the cause of their epilepsy. Gene variants are subsequently searched for in all genes that might be associated with neurological diseases. The aim is to try to refine the phenotype and correlate genotype-phenotype for gene variants detected in known epilepsy genes and possibly identify new genetic causes of epilepsy by detecting causal variants in genes not previously associated with epilepsy. I also focus on re-evaluating exome data from previously unsolved patients in the light of emerging new knowledge about the association of epilepsy with newly described variants and genes.
Selected publications
Möller B, Becker LL, Saffari A, Afenjar A, Coci EG, Williamson R, Ward-Melver C, Gibaud M, Sedláčková L, Laššuthová P, Libá Z, Vlčková M, William N, Klee EW, Gavrilova RH, Lévy J, Capri Y, Scavina M, Körner RW, Valuvullah Z, Weiß C, Möller GM, Thiel M, Sinnema M, Kamsteeg EJ, Donkervoort S, Duboc V, Zaafrane-Khachnaoui K, Elkhateeb N, Selim L, Margot H, Marin V, Beneteau C, Isidor B, Cogne B, Keren B, Küsters B, Beggs AH, Genetti CA, Nicolai J, Dötsch J, Koy A, Bönnemann CG, von der Hagen M, von Kleist-Retzow JC, Voermans N, Jungbluth H, Dafsari HS. The expanding clinical and genetic spectrum of DYNC1H1-related disorders. Brain 2024 Jun 8:awae183. https://doi.org/10.1093/brain/awae183. (IF 11,9)
Sedlackova L, Sterbova K, Vlckova M, Seeman P, Zarubova J, Marusic P, Krsek P, Krijtova H, Musilova A, Lassuthova P. Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel. Eur J Paediatr Neurol. 2023 Nov 13;48:17-29. https://doi.org/10.1016/j.ejpn.2023.10.006. (IF 3,1)
Happ HC, Sadleir LG, Zemel M, de Valles-Ibáñez G, Hildebrand MS, McConkie-Rosell A, McDonald M, May H, Sands T, Aggarwal V, Elder C, Feyma T, Bayat A, Møller RS, Fenger CD, Klint Nielsen JE, Datta AN, Gorman KM, King MD, Linhares ND, Burton BK, Paras A, Ellard S, Rankin J, Shukla A, Majethia P, Olson RJ, Muthusamy K, Schimmenti LA, Starnes K, Sedláčková L, Štěrbová K, Vlčková M, Laššuthová P, Jahodová A, Porter BE, Couque N, Colin E, Prouteau C, Collet C, Smol T, Caumes R, Vansenne F, Bisulli F, Licchetta L, Person R, Torti E, McWalter K, Webster R, Gerard EE, Lesca G, Szepetowski P, Scheffer IE, Mefford HC, Carvill GL. Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. Neurology. 2023 Feb 7;100(6):e603-e615. https://doi.org/10.1212/WNL.0000000000201492. (IF 9,9)
Štěrbová K, Vlčková M, Hansíková H, Sebroňová V, Sedláčková L, Pavlíček P, Laššuthová P. Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review. Neurogenetics. 2021 Oct;22(4):359-364. https://doi.org/10.1007/s10048-021-00659-0. (IF 2,2)
Sedláčková L, Laššuthová P, Štěrbová K, Vlčková M, Kudr M, Buksakowska I, Staněk D, Seeman P. Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant. Eur J Med Genet. 2021 Sep;64(9):104263. https://doi.org/10.1016/j.ejmg.2021.104263. (IF 5,2)
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