The Cindarella phenomenon – epilepsy genetics is lagging behind, as shown by PubMed

This is a slide that I have used in some of my presentations.  If you look at the citations for epilepsy, autism and schizophrenia in Nature, Science and Nature Genetics, you will see this pattern:  The run of papers in 2000-2001 corresponding to the era of the monogenic epilepsies and the 2007-2009 era, when papers on schizophrenia and autism overtake the publications on epilepsy.  The 2007-2009 peak for autism and schizophrenia is mainly due to the identification of rare CNVs in these disorders, a research strategy that has only been applied to the epilepsies more recently.

This widening gap between autism, schizophrenia research and epilepsy research is the Cinderella phenomenon as a reference to a statement by William G. Lennox:

“Epilepsy is no longer the Cinderella of medicine.  The electroencephalograph is her glass slipper.” William G. Lennox, 1947


Ingo Helbig

Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany

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