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
First Online:
Received:
Accepted:

Keywords

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.
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Notes

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

381_2016_3139_MOESM1_ESM.mp4 (1.7 mb)
ESM 1 (MP4 1750 kb)
381_2016_3139_MOESM2_ESM.mp4 (2.5 mb)
ESM 2 (MP4 2565 kb)

References

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    Brown DA, Sihra TS (2008) Presynaptic signaling by heterotrimeric G-proteins. Handb Exp Pharmacol 184:207–60CrossRefPubMedGoogle Scholar
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    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
  4. 4.
    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
  5. 5.
    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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