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. 2015 May 5;2(2):2329048X15583717.
doi: 10.1177/2329048X15583717. eCollection 2015 Apr-Jun.

Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature

Inga Talvik  1   2 , Rikke S Møller  3   4 , Merilin Vaher  2 , Ulvi Vaher  2 , Line Hg Larsen  4   5 , Hans A Dahl  4   5 , Pilvi Ilves  6 , Tiina Talvik  1   2
Affiliations

Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature

Inga Talvik et al. Child Neurol Open. .

Abstract

Mutations in the guanine nucleotide-binding protein (G protein), α activating activity polypeptide O (GNAO1) gene have recently been described in 6 patients with early infantile epileptic encephalopathies. In the present study, we report the phenotype and the clinical course of a 4-year-old female with an epileptic encephalopathy (Ohtahara syndrome) and profound intellectual disability due to a de novo GNAO1 mutation (c.692A>G; p.Tyr231Cys). Ohtahara syndrome is a devastating early infantile epileptic encephalopathy that can be caused by mutations in different genes, now also including GNAO1. The mutation was found using a targeted next generation sequencing gene panel and demonstrates targeted sequencing as a powerful tool for identifying mutations in genes where only a few de novo mutations have been identified.

Keywords: GNAO1 mutation; early infantile epileptic encephalopathy; next generation sequencing gene panel; ohtahara syndrome.

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Conflict of interest statement

Declaration of Conflicting Interests: The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Figure 1.
Figure 1.
Phenotype with subtle dysmorphic features.
Figure 2.
Figure 2.
Electroencephalography (EEG) at the age of 3 months. At sleep bilateral high voltaged up to 360 µV irregular slow wave bursts mixed with multifocal spikes and sharp waves (duration <1 second) alternately with low-voltaged (20-30 µV) periods (duration up to 2 seconds).
Figure 3.
Figure 3.
Ictal electroencephalography (EEG) at the age of 3 months. Myoclonia followed by tonic–clonic seizure.
Figure 4.
Figure 4.
Magnetic resonance imaging (MRI) findings.
See this image and copyright information in PMC

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