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KCNQ2
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publication
KCNQ2 Mutation Explains the Etiology of Chloral Hydrate-Responsive Ohtahara Syndrome
2017 |
2. lékařská fakulta
publication
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life
2018 |
2. lékařská fakulta
publication
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
2015 |
2. lékařská fakulta
publication
De novo variants in neurodevelopmental disorders with epilepsy
2018 |
2. lékařská fakulta
publication
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes
2017 |
2. lékařská fakulta