| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 6016552 | European Journal of Paediatric Neurology | 2016 | 6 Pages |
Abstract
This report emphasizes the role of PLCB1 haploinsufficiency in severe EE. We demonstrate a phenotypic variability in patients with a PLCB1-associated EE. In addition, our findings underscore the importance of microarray analysis in all patients with an EE of unknown etiology.
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Authors
An-Sofie Schoonjans, Marije Meuwissen, Edwin Reyniers, Frank Kooy, Berten Ceulemans,