https://doi.org/10.1016/j.preteyeres.2018.03.006
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Steffen Syrbe
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Steffen Syrbe is an academic researcher from Heidelberg University. The author has contributed to research in topics: Epilepsy research and treatment & Genetics and Neurodevelopmental Disorders & Genomics and Rare Diseases. The author has an h-index of 36, co-authored 169 publications.
ORCID: 0000-0003-2543-4844Papers by this author
worksThe primate fovea: Structure, function and development
2018 · Progress in Retinal and Eye Research · 336 citations
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
2015 · Nature Genetics · 265 citations
https://doi.org/10.1038/ng.3239
Delineating the <i>GRIN1</i> phenotypic spectrum
2016 · Neurology · 202 citations
https://doi.org/10.1212/wnl.0000000000002740
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study
2019 · Orphanet Journal of Rare Diseases · 124 citations
https://doi.org/10.1186/s13023-019-1077-6
Treatment Responsiveness in KCNT1-Related Epilepsy
2019 · Neurotherapeutics · 97 citations
https://doi.org/10.1007/s13311-019-00739-y
CSF Findings in Acute NMDAR and LGI1 Antibody–Associated Autoimmune Encephalitis
2021 · Neurology Neuroimmunology & Neuroinflammation · 62 citations
https://doi.org/10.1212/nxi.0000000000001086
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