Elisabeth Schuler

De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy

Kameryn M. Butler, Olivia A. Moody, Elisabeth Schuler et al. · Brain · 2018 · 113 citations · Full text

Molecular Neuroscience, Neurobiology Of Disease, G Protein-coupled Receptor +15

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy

Wenshu XiangWei, Varun Kannan, Yuchen Xu et al. · Brain · 2019 · 87 citations · Full text

Receptor Surface Expression, Grin2d-related Developmental, Nmdar Subunits +25

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Anaïs Begemann, Heinrich Sticht, Amber Begtrup et al. · Genetics in Medicine · 2020 · 58 citations · Full text

Long-term seizure outcome in pediatric patients with focal cortical dysplasia undergoing tailored and standard surgical resections

Eva Martinez‐Lizana, Susanne Fauser, Armin Brandt et al. · Seizure · 2018 · 37 citations · Full text

Pediatric Hydrocephalus, Long-term Seizure Outcome, Neurological Disorder +8

Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS)

Benedikt Sonnek, Jan Henje Döring, Ulrike Mütze et al. · European Journal of Paediatric Neurology · 2020 · 29 citations

Sleep Disorders, Sleep Medicine, Sleep +9