Konrad Platzer

37PUBLICATIONS
537CO-AUTHORS
Neurology and neuromuscular diseasesNeonatologyGene expression (incl. microarray and other genome-wide approaches)NeurogeneticsEpigenetics (incl. genome methylation and epigenomics)
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Publications (37)

|Jun 25, 2026
An epilepsy-associated KV3.1 potassium channel variant acts via dominant-positive effect.

|Apr 02, 2026
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.

Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger

|Mar 13, 2026
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Tobias Brünger, Ilona Krey, Suyeon Kim

|Jan 28, 2026
Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani

|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat

|Jun 24, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann

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Frequent Collaborators

12 joint publications

Rami Abou Jamra

10 joint publications

Johannes R Lemke

7 joint publications

Rikke S Møller

6 joint publications

Elena Gardella