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Article

Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients.

Brain & development - 1 Apr 2017

Masri Amira, Chung Seo-Kyung, Rees Mark I

Abstract excerpt

BACKGROUND: Hyperekplexia, is a rare disorder characterized by excessive startle response to acoustic, visual, or other stimuli. It is inherited in autosomal recessive and dominant pattern. OBJECTIVE: To describe the clinical and genetic features of hyperekplexia in Jordanian patients. METHODS: This retrospective study includes all patients with proved genetic diagnosis of hyperekplexia who presented to our...

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Source

Identifiers

PMID: 27843043
DOI: 10.1016/j.braindev.2016.10.010

Genes

GLRA1
GLRB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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