Mutluay Arslan

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 303 citations · Full text

Medicine, Genetics, Molecular Genetics +14

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

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

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

Lisa‐Marie Niestroj, Eduardo Pérez‐Palma, Daniel P. Howrigan et al. · Brain · 2020 · 81 citations · Full text

Medicine, Genetics, Molecular Genetics +13