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Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1 Volume 16, issue 3, September 2014

Figure 1

GLRA1 mutation c.1555G>A; p.R392H. Section of sequence chromatograms of GLRA1 exon 9.

The arrows indicate the position of the homozygous change from G to A. The wild type sequence (A) displays a G nucleotide at position c.1555 and at the same position in the index case sample (B), an A nucleotide is present, leading to the arginine/histidine substitution at codon 392. (C) Partial amino acid phylogenetic sequence alignment of hGlyR α1 from different species showing a pattern of conservation, with amino acid R392 coloured in red.