Simone Seiffert

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

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

Peter D. Galer, Shiva Ganesan, David Lewis‐Smith et al. · The American Journal of Human Genetics · 2020 · 45 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

Zheng Yie Yap, Stéphanie Efthymiou, Simone Seiffert et al. · The American Journal of Human Genetics · 2021 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

Simone Seiffert, Manuela Pendziwiat, Tatjana Bierhals et al. · EBioMedicine · 2022 · 30 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy

Niklas Schwarz, Yvonne Weber, Hiltrud Muhle et al. · Neuropediatrics · 2020 · 24 citations

Life Sciences, Genetics, Neurology +17