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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)

159 cited

→ Children with multiphasic disseminated encephalomyelitis and antibodies to the myelin oligodendrocyte glycoprotein (MOG): Extending the spectrum of MOG antibody positive diseases(2016)157 cited

→ The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications(2022)145 cited

→ Predicting functional effects of missense variants in voltage-gated sodium and calcium channels(2020)139 cited