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Johanna A. Jaehn

University Hospital Schleswig-Holstein(DE)University of Lübeck(DE)

Publications by Year

Research Areas

Epilepsy research and treatment, Cardiac electrophysiology and arrhythmias, Metabolism and Genetic Disorders, Genomics and Rare Diseases, Glycogen Storage Diseases and Myoclonus

Most-Cited Works

→ De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome(2013)220 cited
→ Pitfalls in genetic testing: the story of missed SCN1A mutations(2016)76 cited