Christian Korff

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

<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Konrad Platzer, Hongjie Yuan, Hannah M. Schutz et al. · Journal of Medical Genetics · 2017 · 256 citations · Full text

Life Sciences, Neurology, Neuroscience +17

Genetic and neurodevelopmental spectrum of <i>SYNGAP1</i>-associated intellectual disability and epilepsy

Cyril Mignot, Celina von Stülpnagel, Caroline Nava et al. · Journal of Medical Genetics · 2016 · 200 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies

Silvia Masnada, Ulrike B. S. Hedrich, Elena Gardella et al. · Brain · 2017 · 164 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Christel Depienne, Caroline Nava, Boris Keren et al. · Human Genetics · 2017 · 119 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17