Denovo2013

My proposed classification scheme for epilepsy-related de novo mutations. Not every de novo mutation found in a patient with epilepsy is necessarily pathogenic. I have tried to classify the mutations based on the evidence relating to the gene involved. This classification does not take into account the severity of the mutation. Also evidence in animal models is not directly considered evidence for a role of this gene in human epilepsy. I would be happy to discuss the idea behind this classification and I am looking forward to your input.

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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