Hyperekplexia: causes
Evidence-based neurology checklist on hyperekplexia: causes: 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…
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
Neurodevelopmental disorder with spastic diplegia and visual defect (NEDSDV)
Sporadic causes
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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