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Article

From Misdiagnosis to Treatment: Genetic Landscape and Genotype-Phenotype Correlations of Hyperekplexia.

Pediatric neurology - 1 Jun 2026

Sarigecili Esra, Işıkay Sedat, Bozdagan Sevcan Tug, Kömür Mustafa, Ucar Habibe Koc, Orgun Leman Tekin, İncecik Faruk, Erol İlknur

Abstract excerpt

BACKGROUND: Hyperekplexia (hereditary startle disease) is a rare, treatable neurogenetic disorder often misdiagnosed as epilepsy, leading to unnecessary interventions. This study aims to characterize the clinical and genetic features of Turkish patients with hyperekplexia and highlight genotype-phenotype correlations. METHODS: We retrospectively analyzed 16 patients diagnosed with hyperekplexia across five...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42013565
DOI: 10.1016/j.pediatrneurol.2026.03.020

Genes

GLRB
SLC6A5
GLRA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 15 Oct 2026.

Related research

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From Misdiagnosis to Treatment: Genetic Landscape and Genotype-Phenotype Correlations of Hyperekplexia.PMID 42013565Read ↗

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Hyperekplexia: treatment of a severe phenotype and review of the literature.Semantic proximity Read ↗

Hyperekplexia: A forgotten diagnosis clinched by next-generation sequencing.Semantic proximity Read ↗

GLRB is the third major gene of effect in hyperekplexia.Semantic proximity Read ↗

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.Semantic proximity Read ↗

Clinical and genetic investigation of 17 Japanese patients with hyperekplexiaSemantic proximity Read ↗

Hereditary Hyperekplexia in Saudi Arabia.Semantic proximity Read ↗

A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype.Semantic proximity Read ↗

Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes.Semantic proximity Read ↗

Neonatal hyperekplexia: a non-epileptic paroxysmal movement disorder with a novel homozygous mutation in the GLRB gene, a seizure mimic.Semantic proximity Read ↗

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