Dorota Hoffman‐Zacharska

The phenotypic spectrum of <i>SCN8A</i> encephalopathy

Jan Larsen, Gemma L. Carvill, Elena Gardella et al. · Neurology · 2015 · 285 citations · Full text

Medicine, Genetics, Neurology +17

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

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Arvid Suls, Johanna A. Jaehn, Angéla Kecskés et al. · The American Journal of Human Genetics · 2013 · 221 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko et al. · Brain · 2021 · 146 citations · Full text

Life Sciences, Genetics, Neuroscience +17

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

Ingo Helbig, Tania López-Hernández, Oded Shor et al. · The American Journal of Human Genetics · 2019 · 132 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +17