2007
DOI: 10.1002/mds.21574
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A novel GLRA1 mutation in a recessive hyperekplexia pedigree

Abstract: We report the identification of a novel Y228C mutation within the M1 trans-membrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree.

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Cited by 14 publications
(6 citation statements)
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“…There appears to be three clusters of cases: first, Caucasian cases predominate (38%) 12. This can be partially explained by referral bias due to the proximity of local tertiary testing centres, and a healthcare setting that facilitates diagnosis and referral for testing.…”
Section: Discussionmentioning
confidence: 99%
“…There appears to be three clusters of cases: first, Caucasian cases predominate (38%) 12. This can be partially explained by referral bias due to the proximity of local tertiary testing centres, and a healthcare setting that facilitates diagnosis and referral for testing.…”
Section: Discussionmentioning
confidence: 99%
“…The mode of inheritance was autosomal dominant. HPX has been identified in >100 pedigrees and in >120 sporadic cases (Bakker et al., 2006; Siren et al., 2006; Doria et al., 2007; Forsyth et al., 2007; Masri & Hamamy, 2007; Gregory et al., 2008; Al‐Owain et al., 2011; Zoons et al., 2012). There are three clinical symptoms: generalized stiffness at birth, excessive startle reflexes, and generalized stiffness following startle.…”
Section: Hyperekplexiamentioning
confidence: 99%
“…Thus, although functional evidence for cholesterol contacts in GlyRs is limited, specific state-dependent interactions identified in this work are consistent with an influential region of channel function. Peripheral to these direct cholesterol contacts, several of the residues (Gln-242, Tyr-244, Trp-255, Ala-267) we identify (Table ) as relevant for allosteric gating have also been linked to hyperekplexia ,, (Figure b). Substituting Glu at the M1 residue Gln-242 produces leaky channels, possibly due to an enhanced interaction with the M2 residue Arg-287 described above. , Conversely, substituting Glu at the M2 residue Ala-267 in the inner mouth of the pore suppresses recovery from desensitization .…”
Section: Discussionmentioning
confidence: 99%