Hyperekplexia: causes
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Hyperekplexia: causes. These are mutations of the GLRA 1, GLRB, and SLC6A5 genes on chromosome 5q. Fully referenced neurology checklist.
Glycine receptor gene mutations
- These are mutations of the GLRA 1, GLRB, and SLC6A5 genes on chromosome 5q
- The transmission is usually autosomal recessive but could be dominant
- The mutations demonstrate anticipation
ASNS gene mutations
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Neurodevelopmental disorder with spastic diplegia and visual defect (NEDSDV)
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Sporadic causes
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References
- Thomas RH, Chung SK, Wood SE, et al. Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay. Brain 2013; 136:3085-3095.
- Gregory ML, Guzauskas GF, Edgar TS, et al. A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype. J Child Neurol 2008; 23:1433-1438.
- Thomas RH, Drew CJ, Wood SE, Hammond CL, Chung SK, Rees MI. Ethnicity can predict GLRA1 gentotypes in hyperekplexia. JNNP 2015; 86:341-343.
- Chung SK, Bode A, Cushion TD, et al. GLRB is the third major gene of effect in hyperekplexia. Hum Mol Genet 2013; 22:927-940.
- Seidahmed MZ, Salih MA, Abdulbasit OB, et al. Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report. BMC Neurol 2016; 16:105.
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