John Libbey Eurotext

Expanding the phenotype of PURA-related developmental epileptic encephalopathy Volume 24, numéro 2, April 2022

Auteurs
1 Danish Epilepsy Center, Dianalund Denmark
2 Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
3 Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
* Correspondence: Guido Rubboli Danish Epilepsy Center, Kolonivej 2A, Dianalund 4293, Denmark

To the Editor,We have read with great interest the report by Solazzi et al. (Early-onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome. Epileptic Disord 2021; 23: 745-8) [1] who describe a previously unreported child affected by PURA-related developmental and epileptic encephalopathy (PURA-related DEE) harbouring a known pathogenic variant, whose phenotype included two peculiar features, i.e. onset of hypokinetic-rigid syndrome at an early age and reflex seizures. [...]

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