Child's Nervous System

, Volume 32, Issue 9, pp 1567–1568 | Cite as

Excellent response to deep brain stimulation in a young girl with GNAO1-related progressive choreoathetosis

  • Sanem Yilmaz
  • Tuncer Turhan
  • Serdar Ceylaner
  • Sarenur Gökben
  • Hasan Tekgul
  • Gul Serdaroglu
Letter to the Editor

Dear Editor:

GNAO1 (guanine nucleotide-binding protein, alpha-other) gene, located on chromosome 16q12.2, encodes the alpha subunit of the heterotrimeric guanine nucleotide binding proteins (G proteins). Three functional G-protein subtypes are defined, inhibitory G-proteins (Gi), stimulatory G-proteins (Gs), and other (Go). Go proteins modulate neurotransmitter release by mediating the presynaptic auto-inhibitory effect of several neurotransmitters on their receptors. Gαo subunit encoded by GNAO1 is expressed in brain tissue and has an important role in brain function [1].

GNAO1 mutation was described firstly in the patients with Ohtahara syndrome and epilepsy [ 2]. Up to date, about 20 cases were reported. The clinical spectrum of the disorder has broadened and movement disorders and psychomotor retardation were also reported. Nine of these cases had solely movement disorders without epilepsy (Table 1). Kulkarni et al. [ 3] reported the first two cases of GNAO1mutations who presented...


Deep Brain Stimulation Movement Disorder Spinal Muscular Atrophy Ketogenic Diet Creatine Kinase Level 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Compliance with ethical standards

Informed consent was obtained from the parents of the case. Additional informed consent was obtained for the publication of the video files of the patient.

Conflict of interest

We declare that we have no conflict of interest.

Supplementary material

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    Brown DA, Sihra TS (2008) Presynaptic signaling by heterotrimeric G-proteins. Handb Exp Pharmacol 184:207–60CrossRefPubMedGoogle Scholar
  2. 2.
    Nakamura K, Kodera H, Akita T et al (2013) De novo mutations in GNAO1, encoding a G-alpha-o subunit of heterotrimeric G Proteins, cause epileptic encephalopathy. Am J Hum Genet 93:496–505CrossRefPubMedPubMedCentralGoogle Scholar
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    Kulkarni N, Tang S, Bhardwaj R et al (2016) Progressive movement disorder in brothers carrying GNAO1 mutation responsive to deep brain stimulation. J Child Neurol 31:211–14CrossRefPubMedGoogle Scholar
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    Saitsu H, Fukai R, Ben-Zeev B et al (2016) Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. Eur J Hum Genet 24:129–34CrossRefPubMedGoogle Scholar
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    Ananth AL, Robichaux-Viehoever A, et al (2016) Clinical course of six children with GNAO1 mutations causing a severe and distinctive movement disorder. Pediatr Neurol. (15)30159-4. doi:  10.1016/j.pediatrneurol.2016.02.018.

Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Sanem Yilmaz
    • 1
  • Tuncer Turhan
    • 2
  • Serdar Ceylaner
    • 3
  • Sarenur Gökben
    • 1
  • Hasan Tekgul
    • 1
  • Gul Serdaroglu
    • 1
  1. 1.Department of Pediatrics, Division of Child NeurologyEge University Medical FacultyBornova-IzmirTurkey
  2. 2.Department of NeurosurgeryEge University Medical FacultyIzmirTurkey
  3. 3.Intergen Genetics CenterKonur Is MerkeziAnkaraTurkey

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