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S. Poschmann · SciRah

Researcher profile · Semantic Scholar

S. Poschmann

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S. Poschmann — researcher profile on SciRah

h-index: 3
Works: 5
Citations: 82

Most-cited papers

De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity
Xia Li, S. Poschmann, Qiu-Yun Chen, W. Fazeli +6 more
2018European Journal of Human Genetics54 citations Open access
Semantic Scholar
Pseudomigraine with temporary neurological symptoms and lymphocytic pleocytosis in a 14-year-old girl probably associated with celiac disease
S. Leiz, S. Saadi, S. Poschmann, J. Stoffels +1 more
201324 citations
Semantic Scholar
The constitutional gain‐of‐function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome
B. Popp, M. Brugger, S. Poschmann, T. Bartolomaeus +13 more
2022Clinical Genetics3 citations Open access
Semantic Scholar
Heterozygous Mutation in the KCNMA1 Gene with “Loss of Function” Phenotype in a Patient with Generalized Epilepsy
S. Poschmann, M. Baethmann, S. Biskup, S. Leiz
20151 citations
Semantic Scholar
De novo BK channel mutation causes epilepsy by regulating voltage-dependent, but not calcium-dependent, activation
Q. Wang, M. Willemsen, Xia Li, S. Poschmann +4 more
2017bioRxiv0 citations Open access
Semantic Scholar

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