The GABAA receptor γ2 subunit (R43Q) mutation in febrile seizures

Pediatric Neurology

Volumn 50, Issue 4, 2014, Pages 353-356

  Hancili, Suna ^a   Önal, Zehra Esra ^b   Ata, Pinar ^c   Karatoprak, Elif Yüksel ^a   Gürbüz, Tamay ^b   Bostanci, Muharrem ^b   Paçal, Yakup ^d   Nuhoǧlu, Çaǧatay ^b   Ceran, Ömer ^d  

^a GOZTEPE TRAINING AND RESEARCH HOSPITAL   (Turkey)

^b GATA HAYDARPASA TRAINING HOSPITAL   (Turkey)

^c MARMARA UNIVERSITY   (Turkey)

^d ISTANBUL MEDIPOL UNIVERSITY   (Turkey)

Author keywords

febrile seizure; R43Q mutation; 2 subunit

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR GAMMA2; 4 AMINOBUTYRIC ACID A RECEPTOR; GABRG2 PROTEIN, HUMAN;

ARTICLE; CHILD; CHILDHOOD ABSENCE EPILEPSY; CHROMOSOME 5; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; FEBRILE CONVULSION; FEMALE; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL; PROSPECTIVE STUDY; CASE CONTROL STUDY; GENETICS; HETEROZYGOTE; HOMOZYGOTE; MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD;

CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MUTATION; PROSPECTIVE STUDIES; RECEPTORS, GABA-A; SEIZURES, FEBRILE;

EID: 84896372565     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2014.01.002     Document Type: Article

References (25)

1. M.V. Johnston Seizures in childhood W.E. Nelson, Nelson Textbook of Pediatrics 18th ed. 2007 W.B. Saunders Company Philadelphia, PA 2457 2475
2. W.A. Hauser The prevalence and incidence of convulsive disorders in children Epilepsia 35 1994 1 6
3. S.S. Rich, I.F. Annegers, W.A. Hauser, and V.E. Anderson Complex segregation analysis of febrile convulsions Am J Hum Genet 4 1987 249 257 (Pubitemid 17145621)
4. J.Q. Kang, W. Shen, and R.L. Macdonald Why does fever trigger febrile seizures? GABAA receptor γ2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies J Neurosci 26 2006 2590 2597 (Pubitemid 44699020)
5. T.D. Graves Ion channels and epilepsy Q J Med 99 2006 201 217
6. S. Baulac, A.I. Gourfinkel, and R. Nabbout et al. Fever, genes, and epilepsy Lancet Neurol 3 2004 421 430 (Pubitemid 38796480)
7. R.L. Macdonald, and J.Q. Kang Molecular pathology of genetic epilepsies associated with GABAA receptors subunit mutations Epilepsy Currents 9 2009 18 23
8. G. Frugier, F. Coussen, and M.F. Giraud et al. A γ2(R43Q) mutation, linked to epilepsy in humans, alters GABAA receptor assembly and modifies subunit composition on the cell surface J Biol Chem 282 2007 3819 3828 (Pubitemid 47084480)
9. R.H. Wallace, C. Marini, and S. Petrou et al. Mutant GABAA receptor γ2subunit in childhood absence epilepsy and febrile seizure Nat Genet 28 2001 49 52 (Pubitemid 32405816)
10. J. Engel Jr. International League Against Epilepsy (ILAE) A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology Epilepsia 42 2001 796 803 (Pubitemid 32605946)
11. D. Nutt GABAA receptors: subtypes, regional distribution, and function J Clin Sleep Med 2 2006 7 11
12. B. Luscher, and C.A. Keller Regulation of GABAA receptor trafficking, channel activity, and functional plasticity of inhibitory synapses Pharmacol Ther 102 2004 195 221 (Pubitemid 38887693)
13. R.L. Macdonald, J.Q. Kang, and M.J. Gallagher Mutations in GABAA receptor subunits associated with genetic epilepsies J Physiol 11 2010 1861 1869
14. R.L. Macdonald, J. Kang, M.J. Gallagher, and H.J. Feng GABAA receptor mutations epilepsy associated with generalized epilepsies Adv Pharmacol 54 2006 147 169
15. S. Baulac, G. Huberfeld, and I. Gourfinkel-An et al. First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the gamma2 subunit gene Nat Genet 28 2001 46 48 (Pubitemid 32405815)
16. C. Marini, L.A. Harkin, and R.H. Wallace et al. Childhood absence epilepsy and febrile seizure: a family with a GABAA receptor mutation Brain 126 2003 230 240 (Pubitemid 36068572)
17. M.T. Bianchi, L. Song, H. Zhang, and R.L. Macdonald Two different mechanisms of disinhibition produced by GABAA receptor mutations linked to epilepsy in humans J Neurosci 22 2002 5321 5327 (Pubitemid 35386453)
18. J.Q. Kang, and R.L. Macdonald The GABAA receptor γ2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of α1β2γ2S receptors in the endoplasmic reticulum J Neurosci 24 2004 8672 8677 (Pubitemid 39362962)
19. E. Eugène, C. Depienne, and S. Baulac et al. GABAA receptor γ2 subunit mutations linked to human epileptic syndromes differentially affect phasic and tonic inhibition J Neurosci 27 2007 14108 14116 (Pubitemid 351377877)
20. H.-J. Feng, M.T. Bianchi, and R.L. Macdonald Pentobarbital differentially modulates α1β3γ and α1β3γ2L GABAA receptor currents Mol Pharm 66 2004 988 1003 (Pubitemid 39319471)
21. D.M. Jones-Davis, L. Song, and R.L. Macdonald Structural determinants of benzodiazepine allosteric regulation of GABAA receptor currents J Neurosci 25 2005 8056 8065 (Pubitemid 41254409)
22. L.G. Sadleir, and I.E. Scheffer Febrile seizures BMJ 334 2007 307 311 (Pubitemid 46293967)
23. T. Tsuboi Genetic aspects of febrile convulsions Hum Genet 38 1977 169 173 (Pubitemid 8180205)
24. S. Shinnar, and T.A. Glauser Febrile seizures J Child Neurol 17 2002 44 52
25. W. Kölfen, K. Pehle, and S. König Is the long-term outcome of following febrile convulsions favorable? Dev Med Child Neurol 40 1998 667 671 (Pubitemid 28522132)