Katalin Štěrbová

Charles University — Czech Republic

Biochemistry, Genetics and Molecular Biology · Life Sciences

27h-index3.5kcitations63works10.02yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(34), Genomics and Rare Diseases(25), Epilepsy research and treatment(16), Genomic variations and chromosomal abnormalities(9), Metabolism and Genetic Disorders(7)

Publications62 total

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
Nature Communications·2025· 4 citedOpen Access
Altered cardiac excitability and arrhythmia in models of SCN1B-linked developmental and epileptic encephalopathy
JCI Insight·2025· 2 citedOpen Access
Treatment of Dravet syndrome
Neurologie pro praxi·2024Open Access
Brivaracetam use in children with epilepsy: A retrospective multicenter study
Seizure·2024· 5 cited
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
European Journal of Paediatric Neurology·2023· 5 citedOpen Access
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
2023· 4 citedOpen Access
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
Nature Communications·2023· 53 citedOpen Access
Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic
˜The œItalian Journal of Pediatrics/Italian journal of pediatrics·2023· 8 citedOpen Access
Epilepsy and sudden unexpected death in epilepsy in a mouse model of human <i>SCN1B</i>-linked developmental and epileptic encephalopathy
Brain Communications·2023· 14 citedOpen Access
A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation
American Journal of Medical Genetics Part A·2022· 4 cited
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>
Neurology·2022· 21 citedOpen Access
Missense variants in the voltage sensing and pore domain of <i>KCNH5</i> cause neurodevelopmental phenotypes including epilepsy
2022Open Access
In response to: Fatal status epilepticus—the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer
Neurogenetics·2021
<i>De novo FZR1</i> loss-of-function variants cause developmental and epileptic encephalopathies
Brain·2021· 16 citedOpen Access
Přerušení umělé výživy a hydratace – jde o legitimní medicínskou možnost i v pediatrii?
2021
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
The American Journal of Human Genetics·2021· 4 citedOpen Access
Distinct gene-set burden patterns underlie common generalized and focal epilepsies
EBioMedicine·2021· 15 citedOpen Access
Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications
Brain·2021· 138 citedOpen Access
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· 19 cited
Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant
European Journal of Medical Genetics·2021· 14 cited
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Frequent Co-authors

Sarah Weckhuysen(32), Renzo Guerrini(23), Petra Laššuthová(23), Ingo Helbig(22), Patrick May(20), Markéta Vlčková(20), Peter De Jonghe(19), Hiltrud Muhle(18), Pasquale Striano(18), Karl Martin Klein(17), Johannes R. Lemke(16), Sarah von Spiczak(16), Rikke S. Møller(15), Carla Marini(15), Felix Rosenow(14), Manuela Pendziwiat(14), Yvonne Weber(14), Roland Krause(13), Lucie Sedláčková(13), Dana Craiu(13)