Christel Depienne
University of Duisburg-Essen(DE)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Epilepsy research and treatment, Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases
Most-Cited Works
- → Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments(2014)654 cited
- → 30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?(2021)438 cited
- → Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies(2019)425 cited
- → Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females(2009)368 cited
- → Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients(2008)362 cited
- → The phenotypic spectrum of SCN8A encephalopathy(2015)283 cited
- → GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects(2017)252 cited
- → Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration(2007)250 cited
- → De novo mutations in HCN1 cause early infantile epileptic encephalopathy(2014)234 cited
- → De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome(2013)220 cited