Hyperekplexia: clinical features
Evidence-based neurology checklist on hyperekplexia: clinical features: Onset features The onset is usually in the first year of life: especially in the first month Gene-negative cases present after the first month Prenatal features Features of hyperkplexia Other abnormal movements Developmental…
Onset features
- The onset is usually in the first year of life: especially in the first month
- Gene-negative cases present after the first month
Prenatal features
Features of hyperkplexia
Other abnormal movements
Developmental features
Other features
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.
- Thomas RH, Drew CJ, Wood SE, Hammond CL, Chung SK, Rees MI. Ethnicity can predict GLRA1 gentotypes in hyperekplexia. JNNP 2015; 86:341-343.
- 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.
- Demir N, Doğan M, Yılmaz S, Peker E, Bulan K, Tuncer O. A confusing coincidence: neonatal hypoglycaemic seizures and hyperekplexia. Case Rep Med 2014; 2014:595412.
- Seidahmed MZ, Salih MA, Abdulbasit OB, et al. A novel syndrome of lethal familial hyperekplexia associated with brain malformation. BMC Neurol 2012; 12:125.
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