Hande Çağlayan

De novo variants in neurodevelopmental disorders with epilepsy

Henrike Heyne, Tarjinder Singh, Hannah Stamberger et al. · Nature Genetics · 2018 · 318 citations · Full text

Medicine, Genetics, Molecular Genetics +12

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

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

Leanne M. Dibbens, Saul A. Mullen, Heather C. Mefford et al. · Human Molecular Genetics · 2009 · 264 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genetic and neurodevelopmental spectrum of <i>SYNGAP1</i>-associated intellectual disability and epilepsy

Cyril Mignot, Celina von Stülpnagel, Caroline Nava et al. · Journal of Medical Genetics · 2016 · 200 citations · Full text

Medicine, Genetics, Molecular Genetics +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