ReviewNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2021
Advances in hyperekplexia and other startle syndromes.
Review in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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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
11 citing papers in PubMed, 18 citations in OpenAlex.
- GLRB-Related Hyperekplexia Presenting as Neonatal Seizure-Like Events.Journal of paediatrics and child health · 2026Article
- Neuropsychiatric manifestations in hyperekplexia: A case with a novelDusunen adam : Bakirkoy Ruh ve Sinir Hastaliklari Hastanesi yayin organi · 2026Article
- Rafiq Syndrome: Old Variant in MAN1B1 Gene and Some New Phenotypic Features.Iranian journal of child neurology · 2025Article
- BRAT1 Mutation - A Developmental and Epileptic Encephalopathy with a Recognizable Phenotype.Annals of Indian Academy of Neurology · 2025Article
- Article
- Neonatal Seizures in Low- and Middle-Income Countries: A Review of the Literature and Recommendations for the Management.Turkish archives of pediatrics · 2024Article
- Startle Disease: New Molecular Insights into an Old Neurological Disorder.The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry · 2023Review
- Preliminary study on toxicological mechanism of golden cuttlefish (Sepia esculenta) larvae exposed to cd.BMC genomics · 2023Article
- A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia.Human genetics · 2023Article
- Article
- Disorders of Movement due to Acquired and Traumatic Brain Injury.Current physical medicine and rehabilitation reports · 2022Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Startle, a basic alerting reaction common to all mammals, is described as a sudden involuntary movement of the body evoked by all kinds of sudden and unexpected stimulus. Startle syndromes are heterogeneous groups of disorders with abnormal and exaggerated responses to startling events, including hyperekplexia, stimulus-induced disorders, and neuropsychiatric startle syndromes. Hyperekplexia can be attributed to a genetic, idiopathic, or symptomatic cause. Excluding secondary factors, hereditary hyperekplexia, a rare neurogenetic disorder with highly genetic heterogeneity, is characterized by neonatal hypertonia, exaggerated startle response provoked by the sudden external stimuli, and followed by a short period of general stiffness. It mainly arises from defects of inhibitory glycinergic neurotransmission. GLRA1 is the major pathogenic gene of hereditary hyperekplexia, along with many other genes involved in the function of glycinergic inhibitory synapses. While about 40% of patients remain negative genetic findings. Clonazepam, which can specifically upgrade the GABARA1 chloride channels, is the main and most effective administration for hereditary hyperekplexia patients. In this review, with the aim at enhancing the recognition and prompting potential treatment for hyperekplexia, we focused on discussing the advances in hereditary hyperekplexia genetics and the expound progress in pathogenic mechanisms of the glycinergic-synapse-related pathway and then followed by a brief overview of other common startle syndromes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.