Molecular Genetics Group
Molecular Genetics Group is dedicated to diagnostics and research of various neurological conditions. Our aim is to find and explore previously unassociated genetic causes and to precisely describe already known causes of severe epilepsy in patients, e.g. epileptic encephalopathies, malformations of cortical development and others. The precise knowledge of genetic cause contributes to our understanding of disease pathogenesis, allows us to tailor medical and surgical treatment and gives patients and families a more precise estimate of the prognosis and likely course of the disease.
Barbora Straka, MD, PhD
Team Leader
Prof. Pavel Krsek, MD, PhD
Physician
Lucie Sedlackova, MSc, PhD
Researcher
Jana Krejcikova, MSc
PhD student
Research areas
Barbora Straka
Search for new genetic causes of malformations of cortical development at the level of the somatic and constitutional genome, research on the role of polygenic inheritance in the development of complex phenotypes, articles see orcid: 0000-0001-8448-2833 (https://orcid.org/0000-0001-8448-2833)
Barbora Splítková
Search for new genetic causes of malformations of cortical development, especially focal cortical dysplasia type I, at the level of the somatic and constitutional genome, articles see orcid: 0000-0002-3462-7421 (https://orcid.org/0000-0002-3462-7421)
Lucie Sedláčková
Search for new genetic causes of severe epilepsy, epileptic encephalopathies and autism spectrum disorders, articles see orcid: 0000-0003-2551-4764 (https://orcid.org/0000-0003-2551-4764)
Petra Laššuthová
Search for new genetic causes in patients with peripheral neuropathies and other serious neurogenetic diseases, articles see orcid: 0000-0003-1726-5868 (https://orcid.org/0000-0003-1726-5868)
Selected publications
Moller B et al
The Expanding Clinical and Genetic Spectrum of the DYNC1H1-related disorders.
Brain 2025
Sanders MW et al
Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue.
Neurology 2024
Sedlackova L et al
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.
European Journal of Paediatric Neurology 2024
Straka B et al
Genetic testing in children enrolled in epilepsy surgery program. A real-life study.
Paediatric Neurology 2023
Happ HC et al
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
Neurology 2023
Barba C et al
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.
Neurology 2023
Straka B et al
Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.
Neurology Genetics 2022
Baldassari S et al
The landscape of epilepsy-related GATOR1 variants
Genetics in Medicine 2019
Current grant projects
NU23-04-00209
Uncovering novel genetic causes of focal malformations of cortical development
Prof. Pavel Kršek, MD, PhD
NU22-04-00097
Exploring causes of the neurogenetic disorders with the newest genomic methods
Assoc. Prof. Dana Šafka Brožková, MD, PhD
NW24-04-00349
Addressing unmet needs in rare diseases: natural history study and multi-omics analysis in hereditary sensory neuropathies
Assoc. Prof. Petra Laššuthová, MD, PhD
International cooperation
Eleonora Aronica, MD, PhD
Academisch Medisch Centrum Universiteit van Amsterdam | AMC · Department of Pathology, Amsterdam, the Netherlands
Davide Mei, PhD
Laboratorio di Neurogenetica, Azienda Ospedaliero Universitaria Meyer, Firenze, Italy
Stéphanie Baulac, PhD
Paris Brain Institute, Paris, France
Keywords
epilepsy, epileptic encephalopathy, malformations of cortical development, severe neurogenetic conditions