Author

Simone Seiffert

Hertie Institute for Clinical Brain ResearchORCID 0000-0002-2676-0193Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Amelie T. van der VeniD· 1 shared Christian M. BoßelmanniD· 1 shared Himanshu GoeliD· 1 shared Ingo HelbigiD· 1 shared Manuela PendziwiatiD· 1 shared Marjolein H. WillemseniD· 1 shared Niklas SchwarziD· 1 shared Tatjana BierhalsiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperNeuroscience

Amelie T. van der VenORCID

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1 paper

Recent·Most cited

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 associated with Developmental and Epileptic Encephalopathy and Autism Spectrum Disorder

Simone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz, Amelie T. van der Ven, Christian M. Boßelmann, Marjolein H. Willemsen, Ulrike B. S. Hedrich, Ingo Helbig, Yvonne G. Weber

The paper identifies FGF12 variants linked to DEE and ASD and shows their functional effects on NaV1.2 and NaV1.6 sodium channels, revealing complex gain- and loss-of-function changes.

bioRxiv · Dec 3, 2021 · PreprintNeuroscience