Steffen Syrbe
Heidelberg University(DE)University Hospital Heidelberg(DE)
Publications by Year
Research Areas
Epilepsy research and treatment, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Metabolism and Genetic Disorders, Ion channel regulation and function
Most-Cited Works
- → The primate fovea: Structure, function and development(2018)342 cited
- → STXBP1 encephalopathy(2016)310 cited
- → De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy(2015)268 cited
- → GRIN2A -related disorders: genotype and functional consequence predict phenotype(2018)223 cited
- → Delineating the GRIN1 phenotypic spectrum(2016)202 cited
- → Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation(2015)187 cited
- → Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies(2017)