Elżbieta Szczepanik

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 · 219 citations · Full text

Chd2 Cause, Dravet Syndrome, Molecular Neuroscience +8

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 · 194 citations

Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems

Melissa B. Ramocki, Magdalena Bartnik, Przemysław Szafrański et al. · The American Journal of Human Genetics · 2010 · 96 citations · Full text

Recurrent Distal 7Q11.23, Deletion Including Hip1, Ywhag Identified +5

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders

Magdalena Bartnik, Elżbieta Szczepanik, Katarzyna Derwińska et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2012 · 56 citations

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with <i><scp>AIFM1</scp></i> mutation – a novel phenotype of the mitochondrial disease

Hanna Mierzewska, Małgorzata Rydzanicz, Tadeusz Biegański et al. · Clinical Genetics · 2016 · 50 citations