Jana Neupauerová

<i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Carla Marini, Alessandro Porro, Agnès Rastetter et al. · Brain · 2018 · 134 citations · Full text

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis

Petra Laššuthová, Dana Šafka Brožková, Marcela Krůtová et al. · Orphanet Journal of Rare Diseases · 2016 · 53 citations · Full text

Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom

Petra Laššuthová, Dana Šafka Brožková, Marcela Krůtová et al. · Neurogenetics · 2014 · 41 citations

Hereditary Neuropathy, Rare Diseases, Mendelian Disorder +13

UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood

Petra Laššuthová, Katalin Štěrbová, Jana Haberlová et al. · Neuropediatrics · 2018 · 28 citations

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life

David Staněk, Petra Laššuthová, Katalin Štěrbová et al. · Orphanet Journal of Rare Diseases · 2018 · 26 citations · Full text