A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy

Annals of Neurology

Volumn 80, Issue 2, 2016, Pages 311-312

  Lien, Espen ^a   Våtevik, Anne Karine ^b   Østern, Rune ^a   Haukanes, Bjørn Ivar ^c   Houge, Gunnar ^c  

^a TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c HAUKELAND UNIVERSITY HOSPITAL   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR BETA1; 4 AMINOBUTYRIC ACID A RECEPTOR BETA3;

BRAIN DISEASE; CASE REPORT; CHILD; EPILEPSY; EPILEPTIC ENCEPHALOPATHY; EXOME; GENETIC VARIATION; HUMAN; KETOGENIC DIET; LETTER; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 84981173129     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24699     Document Type: Letter

References (4)

1. Janve VS, Hernandez CC, Verdier KM, et al. Epileptic encephalopathy de novo GABRB mutations impair GABA receptor function. Ann Neurology 2016. doi:10.1002/ana.24631 [Epub ahead of print].
2. Epi4K Consortium; Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, et al. De novo mutations in epileptic encephalopathies. Nature 2013;501:217–221.
3. Tanaka M, Olsen RW, Medina MT, et al. Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. Am J Hum Genet 2008;82:1249–1261.
4. Gurba KN, Hernandez CC, Hu N, Macdonald RL. GABRB3 mutation, G32R, associated with childhood absence epilepsy alters alpha1beta3gamma2L gamma-aminobutyric acid type A (GABAA) receptor expression and channel gating. J Biol Chem 2012;287:12083–12097.