Jürgen Sperner

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Johannes R. Lemke, Dennis Lal, Eva M. Reinthaler et al. · Nature Genetics · 2013 · 436 citations

Neurobiology Of Disease, Neurophysiology, Genetics +10

Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation

Jiong Tao, Hilde Van Esch, M. Hagedorn-Greiwe et al. · The American Journal of Human Genetics · 2004 · 322 citations · Full text

Developmental Anomaly, Severe Neurodevelopmental Retardation, Developmental Biology +11

Febrile infection–related epilepsy syndrome (FIRES): A nonencephalitic encephalopathy in childhood

Andreas van Baalen, Martin Häusler, Rainer Boor et al. · Epilepsia · 2010 · 229 citations · Full text

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

Cas Simons, Nicole I. Wolf, Nathan McNeil et al. · The American Journal of Human Genetics · 2013 · 192 citations · Full text

Leukoencephalopathy Hypomyelination, De Novo Mutation, Neurobiology Of Disease +12

Evidence That Paternal Expression of the ε-Sarcoglycan Gene Accounts for Reduced Penetrance in Myoclonus-Dystonia

B. Müller, Katja Hedrich, Norman Kock et al. · The American Journal of Human Genetics · 2002 · 161 citations · Full text

Molecular Neuroscience, Reduced Penetrance, Genetics +6