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01-10-2019 | Dystonia | Letter to the Editor

GNAO1 mutation presenting as dyskinetic cerebral palsy

Authors: Maria João Malaquias, Isabel Fineza, Leal Loureiro, Luís Cardoso, Isabel Alonso, Marina Magalhães

Published in: Neurological Sciences | Issue 10/2019

Excerpt

GNAO1 mutations, described in early-onset epileptic encephalopathies, have been recently (since 2013) linked to hyperkinetic movement disorders with developmental delay. The growing number of recognized cases allowed for the identification of a genotype-phenotype correlation with diagnostic and prognostic importance. The resistance of the disease to pharmacological management sets deep brain stimulation as a relevant therapeutic option [1]. …

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Title: GNAO1 mutation presenting as dyskinetic cerebral palsy
Authors: Maria João Malaquias
Isabel Fineza
Leal Loureiro
Luís Cardoso
Isabel Alonso
Marina Magalhães
Publication date: 01-10-2019
Publisher: Springer International Publishing
Keywords: Dystonia
Tremor
Movement Disorder
Levodopa
Orofacial Dyskinesia
Published in: Neurological Sciences / Issue 10/2019
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-019-03964-7

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