Both authors contributed equally to this study.
Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy
Article first published online: 30 JUN 2011
© 2011 The Authors. European Journal of Neuroscience © 2011 Federation of European Neuroscience Societies and Blackwell Publishing Ltd
European Journal of Neuroscience
Volume 34, Issue 2, pages 237–249, July 2011
How to Cite
Lachance-Touchette, P., Brown, P., Meloche, C., Kinirons, P., Lapointe, L., Lacasse, H., Lortie, A., Carmant, L., Bedford, F., Bowie, D. and 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
- Issue published online: 18 JUL 2011
- Article first published online: 30 JUN 2011
- Received 1 April 2011, revised 3 May 2011, accepted 16 May 2011
Fig. S1. Peptide sequence alignment of a portion of the GABRA1 and GABRG2 proteins from different species. The sequences are orthologous to the human residues 201–250 and 70–119 respectively. The orange boxes show evolutionary conservation of the aspartate 219 residue and the proline 83 residue across species. Highly conserved residues near to the mutated amino acids are indicated by an asterisk.
Table S1. Clinical manifestations of the 16 affected individuals carrying novel GABAA receptor mutations.
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