Related Experiment Video
Updated: Jul 28, 2025
Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
Published on: September 20, 2024
Hyperekplexia: A Treatable Seizure Mimicker in Infants
Sai Chandar Dudipala1,2, Raja Vijendra Reddy3, Roop Shankar3
1Pediatrics, Prathima Institute of Medical Sciences, Karimnagar, IND.
Insights
Hyperekplexia (HK), a rare neurogenetic disorder, causes an exaggerated startle reflex in infants. This case report identifies a GLRA1 gene mutation in a two-month-old infant misdiagnosed with epilepsy, highlighting the importance of accurate diagnosis.
Area of Science:
- Neurogenetics
- Pediatric Neurology
Background:
- Hyperekplexia (HK), or startle disease, is a rare neurogenetic disorder presenting in early infancy.
- Characterized by an exaggerated startle reflex and generalized hypertonia, HK is often misdiagnosed as epilepsy, leading to inappropriate treatment.
Observation:
- A two-month-old female infant presented with symptoms consistent with HK but was initially treated for epilepsy.
- Diagnostic evaluation included next-generation sequencing.
Findings:
- Genetic analysis revealed a pathogenic homozygous missense mutation (c.1259C>A) in exon 9 of the GLRA1 gene.
- This mutation confirmed the diagnosis of hyperekplexia-1.
Implications:
- Accurate genetic diagnosis is crucial for differentiating HK from epilepsy in infants.
- Early and correct diagnosis of HK can prevent prolonged and ineffective antiseizure medication treatment.
- Understanding the genetic basis of HK aids in developing targeted therapies.
Abstract:
Hyperekplexia (HK) or startle disease is an uncommon, early infantile onset, potentially treatable neurogenetic disorder. It is characterized by an exaggerated startle reflex in response to tactile or acoustic or visual stimuli followed by generalized hypertonia. It is caused by genetic mutations in a number of different genes such as GLRA1, SLC6A5, GLRB, GPHN, and ARHGEF9. HK is frequently misdiagnosed as a form of epilepsy and is advised for prolonged antiseizure medications. Here, we report a two-month-old female child with HK, who was treated for epilepsy. Next-generation sequencing revealed a pathogenic homozygous missense mutation of variant c.1259C>A in exon 9 of the GLRA1 gene that was compatible with the diagnosis of hyperekplexia-1.
More Related Videos
Related Concept Videos
01:13Seizures: Classification
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
01:24Epilepsy and Seizures: Overview
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
01:15REM Sleep Behavior Disorder
RBD is significantly associated with...
01:20Inborn Errors of Metabolism