Birgit Jepsen

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

The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy

Elena Gardella, Carla Marini, Marina Trivisano et al. · Neurology · 2018 · 160 citations · Full text

Medicine, Neurology, Pediatrics +16

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

Rikke S. Møller, Line H.G. Larsen, Katrine M. Johannesen et al. · Molecular Syndromology · 2016 · 127 citations · Full text

Medicine, Genetics, Neurology +17

The role of <i><scp>SLC</scp>2A1</i> mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of <scp>GLUT</scp>1 deficiency syndrome

Jan Larsen, Katrine M. Johannesen, Jakob Ek et al. · Epilepsia · 2015 · 100 citations · Full text

Life Sciences, Genetics, Neurology +17

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features

Anne‐Marie Bisgaard, Maria Kirchhoff, Zeynep Tümer et al. · American Journal of Medical Genetics Part A · 2006 · 60 citations

Life Sciences, Genetics, Molecular Genetics +17