Andreas Merkenschlager

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Steffen Syrbe, Ulrike B. S. Hedrich, Erik Riesch et al. · Nature Genetics · 2015 · 275 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Benign infantile seizures and paroxysmal dyskinesia caused by an <i>SCN8A</i> mutation

Elena Gardella, Felicitas Becker, Rikke S. Møller et al. · Annals of Neurology · 2015 · 190 citations

Life Sciences, Genetics, Neurology +17

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 184 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Neurologic phenotypes associated with <i>COL4A1</i> / <i>2</i> mutations

Sara Zagaglia, C. Selch, Jelena Radić Nišević et al. · Neurology · 2018 · 144 citations · Full text

Medicine, Neurology, Neuroscience +17

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study

Afshin Saffari, Ines Brösse, Adelheid Wiemer‐Kruel et al. · Orphanet Journal of Rare Diseases · 2019 · 126 citations · Full text

Medicine, Neurology, Pediatrics +17