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SCN1A
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The SCN1A gene analysis in patients with Febrile seizures
2006 |
Second Faculty of Medicine
publication
Genetics and clinical manifestation of syndrome of generalised epilepsy with febrile seizures (GEFS+)
Publication without faculty affiliation
publication
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
2018 |
Second Faculty of Medicine
publication
De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome
2013 |
Second Faculty of Medicine
publication
The phenotypic spectrum of SCN8A encephalopathy
2015 |
Second Faculty of Medicine
publication
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes
2017 |
Second Faculty of Medicine
publication
Epilepsy and sudden unexpected death in epilepsy in a mouse model of human SCN1B-linked developmental and epileptic encephalopathy
2023 |
Second Faculty of Medicine