Article
Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series.
Parkinsonism & related disorders - 1 Sept 2021
Dzinovic Ivana, Škorvánek Matej, Necpál Ján, Boesch Sylvia, Švantnerová Jana, Wagner Matias, Havránková Petra, Pavelekova Petra, Haň Vladimír, Janzarik Wibke G, Berweck Steffen, Diebold Isabel, Kuster Alice, Jech Robert, Winkelmann Juliane, Zech Michael
Abstract excerpt
INTRODUCTION: Although there has been increasing recognition of the occurrence of non-epileptic involuntary movements in developmental and epileptic encephalopathies (DEEs), the spectrum of dystonic presentations associated with these conditions remains poorly described. We sought to expand the catalogue of dystonia-predominant phenotypes in monogenic DEEs, building on the recently introduced concept of an...
Topics
- Adolescent
- Brain Diseases
- Child
- Child, Preschool
- Dystonia
- Epileptic Syndromes
- Female
- Forkhead Transcription Factors
- GTP-Binding Protein alpha Subunits, Gi-Go