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Article

Hyperekplexia: A Single-Center Experience.

Journal of child neurology - 1 Jun 2024

Dolu Merve Hilal, Öz Tunçer Gökçen, Akça Ünal, Aydın Seren, Bahadir Oğuzhan, Sezer Özlem, Aksoy Ayşe, Taşdemir Haydar Ali

Abstract excerpt

BACKGROUND: Hyperekplexia is a rare neurogenetic disorder that is classically characterized by an exaggerated startle response to sudden unexpected stimuli. This study aimed to determine clinical and genetic characteristics of our patients with hyperekplexia. METHODS: The age of onset and diagnosis, familial and perinatal history, clinical course, complications, metabolic screening tests, magnetic resonance...

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

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Source

Identifiers

PMID: 39051604
DOI: 10.1177/08830738241263243

Genes

GLRA1
SLC6A5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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