Systematic review reveals genetic heterogeneity and familial occurrence in neonatal hyperekplexia, highlighting the need for prompt differentiation from epilepsy.
in 2 of 14 (14.28%). Patients showed heterozygous (66.66%) or homozygous (33.33%) status. In 7 of 14 cases (50%), the condition occurred in other family members. A genotype-phenotype correlation was not achievable.Timely diagnosis is crucial to improve the natural history of hyperekplexia avoiding/reducing possible major complications such as sudden infant death syndrome, brain injury, and serious falls. Early differentiation from epilepsy minimizes treatment cost and improves the quality of life of patients.
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Falsaperla et al. (2024) studied this question.
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