PGAP2

As we have written several times about possible hypotheses regarding the overlap of epileptic encephalopathies and known recessive human diseases including metabolic, storage and neurodegenerative disorders, I thought that I would explain both concepts in this figure. In Scenario A, there is a large overlap of these diseases with the epileptic encephalopathies, in Scenario B, there is little overlap. The shades of the triangles should signify the gradient from typical to atypical presentations.

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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