439
Views
11
CrossRef citations to date
0
Altmetric
Original Research Article

Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype

, , , , , , , , , , , , , , , , , , , , , , , & show all
Pages 30-36 | Received 10 Nov 2016, Accepted 31 Mar 2017, Published online: 02 May 2017

References

  • Audenaert, D., Schwartz, E., Claeys, K.G., Claes, L., Deprez, L., Suls, A., … De Jonghe, P. (2006). A novel GABRG2 mutation associated with febrile seizures. Neurology, 67, 687–690. doi:10.1212/01.wnl.0000230145.73496.a2
  • Balan, S., Sathyan, S., Radha, S.K., Joseph, V., Radhakrishnan, K., & Banerjee, M. (2013). GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures. Pharmacogenetics and Genomics, 23, 605–610. doi:10.1097/FPC.0000000000000000
  • Barnard, E.A., Skolnick, P., Olsen, R.W., Mohler, H., Sieghart, W., Biggio, G., … Langer, S.Z. (1998). International Union of Pharmacology. XV. Subtypes of γ-aminobutyric acidA receptors: classification on the basis of subunit structure and receptor function. Pharmacological Reviews, 50, 291–314.
  • Baulac, S., Huberfeld, G., Gourfinkel-An, I., Mitropoulou, G., Beranger, A., Prud'homme, J.F., … LeGuern, E. (2001). First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene. Nature Genetics, 28, 46–48.doi: 10.1038/ng0501-46
  • Boillot, M., Morin-Brureau, M., Picard, F., Weckhuysen, S., Lambrecq, V., Minetti, C., … An-Gourfinkel, I. (2015). Novel GABRG2 mutations cause familial febrile seizures. Neurology Genetics, 1, e35. doi:10.1212/NXG.0000000000000035
  • Cantarin-Extremera, V., Garcia-Penas, J.J., Gutiérrez-Solana, L.G., Garcia-Fernandez, M., Ruiz-Falcó, M.L., Duat-Rodríguez, A., & Lopez-Marin, L. (2011). Clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus. Revista De Neurologia, 52, 404–411.
  • Carvill, G.L., Heavin, S.B., Yendle, S.C., McMahon, J.M., O'roak, B.J., Cook, J., … Malone, S. (2013). Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nature Genetics, 45, 825–830. doi:10.1038/ng.2646
  • Harkin, L.A., Bowser, D.N., Dibbens, L.M., Singh, R., Phillips, F., Wallace, R.H., … Scheffer, I.E. (2002). Truncation of the GABA A-receptor γ2 subunit in a family with generalized epilepsy with febrile seizures plus. The American Journal of Human Genetics, 70, 530–536. doi:10.1086/338710
  • Hirose, S. (2006). A new paradigm of channelopathy in epilepsy syndromes: intracellular trafficking abnormality of channel molecules. Epilepsy Research, 70, 206–217. doi:10.1016/j.eplepsyres.2005.12.007
  • Huang, X., Hernandez, C.C., Hu, N., & Macdonald, R.L. (2014). Three epilepsy-associated GABRG2 missense mutations at the γ+/β− interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents. Neurobiology of Disease, 68, 167–179. doi:10.1016/j.nbd.2014.04.015
  • Johnston, A.J., Kang, J.Q., Shen, W., Pickrell, W.O., Cushion, T.D., Davies, J.S., … Thomas, R.H. (2014). A novel GABRG2 mutation, p. R136*, in a family with GEFS + and extended phenotypes. Neurobiology of Disease, 64, 131–141. doi:10.1016/j.nbd.2013.12.013
  • Kananura, C., Haug, K., Sander, T., Runge, U., Gu, W., Hallmann, K., … Steinlein, O.K. (2002). A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Archives of Neurology, 59, 1137–1141. doi:10.1001/archneur.59.7.1137
  • Kang, J.Q., & Macdonald, R.L. (2016). Molecular pathogenic basis for GABRG2 mutations associated with a spectrum of epilepsy syndromes, from generalized absence epilepsy to Dravet syndrome. Journal of American Medical Association Neurology, 73, 1009–1016. doi:10.1001/jamaneurol.2016.0449
  • Kumar, P., Henikoff, S., & Ng, P.C. (2009). Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nature Protocols, 4, 1073–1081. doi:10.1038/nprot.2009.86
  • Lachance‐Touchette, P., Brown, P., Meloche, C., Kinirons, P., Lapointe, L., … Cossette, P. (2011). Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. European Journal of Neuroscience, 34, 237–249. doi:10.1111/j.1460-9568.2011.07767.x
  • Li, H., & Durbin, R. (2009). Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics, 25, 1754–1760.doi: 10.1093/bioinformatics/btp324
  • Macdonald, R.L., Kang, J.Q., & Gallagher, M.J. (2010). Mutations in GABAA receptor subunits associated with genetic epilepsies. The Journal of Physiology, 588, 1861–1869. doi:10.1113/jphysiol.2010.186999
  • Reinthaler, E.M., Dejanovic, B., Lal, D., Semtner, M., Merkler, Y., Reinhold, A., … Sedlmayr, U. (2015). Rare variants in γ‐aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes. Annals of Neurology, 77, 972–986. doi:10.1002/ana.24395
  • Richards, C.S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., … Rehm, H.L. on behalf of the ACMG Laboratory Quality Assurance Committee. (2015). Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine, 17, 405–423. doi:10.1038/gim.2015.30
  • Sarto-Jackson, I., & Sieghart, W. (2008). Assembly of GABAA receptors (Review). Molecular Membrane Biology, 25, 302–310. doi:10.1080/09687680801914516
  • Schwartzkroin, P.A. (1998). GABA synapses enter the molecular big time. Nature Medicine, 4, 1115. doi:10.1038/2608
  • Shen, D., Hernandez, C.C., Shen, W., Hu, N., Poduri, A., Shiedley, B., … Macdonald, R.L. (2017). De novo GABRG2 mutations associated with epileptic encephalopathies. Brain, 140, 49–67. doi:10.1093/brain/aww272
  • Shi, X., Huang, M.C., Ishii, A., Yoshida, S., Okada, M., Morita, K., … Hirose, S. (2010). Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies. Journal of Human Genetics, 55, 375–378.doi: 10.1038/jhg.2010.47
  • Sun, H., Zhang, Y., Liang, J., Liu, X., Ma, X., Wu, H., … Wu, X. (2008). SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus. Journal of Human Genetics, 53, 769–774. doi:10.1007/s10038-008-0306-y
  • Tian, M., Mei, D., Freri, E., Hernandez, C.C., Granata, T., Shen, W., … Guerrini, R. (2013). Impaired surface αβγ GABAA receptor expression in familial epilepsy due to a GABRG2 frameshift mutation. Neurobiology of Disease, 50, 135–141. doi:10.1016/j.nbd.2012.10.008
  • Wallace, R.H., Marini, C., Petrou, S., Harkin, L.A., Bowser, D.N., Panchal, R.G., … Berkovic, S.F. (2001). Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures. Nature Genetics, 28, 49–52. doi:10.1038/ng0501-49

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.