ArticleCureus2024
Hyperekplexia: Unveiling a Rare Neurological Condition With a Treatable Solution.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Neuropsychiatric manifestations in hyperekplexia: A case with a novelDusunen adam : Bakirkoy Ruh ve Sinir Hastaliklari Hastanesi yayin organi · 2026Article
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hyperekplexia (HPX) is a rare hereditary disorder characterized by an exaggerated startle reflex and neonatal hypertonia. It exhibits both autosomal dominant and autosomal recessive inheritance patterns, depending on the gene involved. It could be a fatal neurogenetic disorder, but it is treatable. We reported a nine-month-old female child with mild gross motor delay, an exaggerated startle reflex, and multiple episodes of transient hypertonia. Neurological and electrophysiological investigations and clinical presentation suggested the diagnosis of hereditary HPX. The child showed a good response to oral clonazepam, with a reduced frequency of such episodes and attainment of age-specific milestones.
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Registered trials
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