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Widening phenotypic spectrum of GABBR2 mutation

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References

  1. EuroEPINOMICS-RES Consortium; Epilepsy Phenome/Genome Project; and Epi4K Consortium (2014) De novo mutations in synaptic transmission genes including DNM1cause epileptic encephalopathies. Am J Hum Genet 95:360–370

    Article  CAS  Google Scholar 

  2. Hamdan FF, Srour M, Capo-Chichi JM et al (2014) De novo mutations in moderate or severe intellectual disability. PLoS Genet 10:e1004772

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Yoo Y, Jung J, Lee YN et al (2017) GABBR2 mutations determine phenotype in Rett syndrome and epileptic encephalopathy. Ann Neurol 82:466–478

    Article  CAS  PubMed  Google Scholar 

  4. Lopes F, Barbosa M, Ameur A et al (2016) Identification of novel genetic causes of Rett syndrome-like phenotypes. J Med Genet 53:190–199

    Article  CAS  PubMed  Google Scholar 

  5. Vuillaume ML, Jeanne M, Xue L et al (2018) A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype. Ann Neurol 83:437–439

    Article  PubMed  Google Scholar 

  6. Study TD. Prevalence and architecture of de novo mutations in developmental disorders. Nature 542(7642):433

  7. Carneiro TN, Krepischi AC, Costa SS et al (2018) Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases. Appl Clin Genet 11:93

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  8. Schuler V, Lüscher C, Blanchet C, Klix N, Sansig G, Klebs K, Schmutz M, Heid J, Gentry C, Urban L, Fox A (2001) Epilepsy, hyperalgesia, impaired memory, and loss of pre-and postsynaptic GABAB responses in mice lacking GABAB (1). Neuron 19(1):47–58

    Article  Google Scholar 

  9. Benarroch EE. GABAB receptors: structure, functions, and clinical implications. Neurology 78(8):578–584

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Funding

The authors received no financial support for the research, authorship, and/or publication of this article.

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Authors and Affiliations

  1. Section of Child Neurology, Department of Pediatrics, University of Arkansas for Medical Sciences, 1 Children’s Way, Little Rock, AR, 72202, USA

    Debopam Samanta

  2. Section of Genetics and Metabolism, Department of Pediatrics, Arkansas Children’s Hospital, University of Arkansas for Medical Sciences, Little Rock, AR, USA

    Yuri A. Zarate

Authors
  1. Debopam Samanta
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  2. Yuri A. Zarate
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Contributions

DS wrote the first draft of the manuscript. YAZ evaluated the patient, provided genetic counseling to the family, and approved the final manuscript as submitted.

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Correspondence to Debopam Samanta.

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

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Informed consent was obtained from all individual participants included in the study.

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Samanta, D., Zarate, Y.A. Widening phenotypic spectrum of GABBR2 mutation. Acta Neurol Belg 119, 493–496 (2019). https://doi.org/10.1007/s13760-019-01088-5

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  • DOI: https://doi.org/10.1007/s13760-019-01088-5

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