Related Experiment Video
Updated: Apr 27, 2026

Electrophoretic Delivery of γ-aminobutyric Acid GABA into Epileptic Focus Prevents Seizures in Mice
Published on: May 16, 2019
A case of startle epilepsy associated with IL1RAPL1 gene deletion
Argiris Dinopoulos1, Maria-Ioanna Stefanou2, Achilleas Attilakos1
1Third Department of Paediatrics, Attiko University Hospital, University of Athens, Athens, Greece.
Background:
Startle epilepsy is a type of reflex epilepsy in which the seizures are mainly precipitated by unexpected sensory stimuli.
Patient:
We present an 18-month-old boy with global developmental delay and multiple episodes of loss of tone after auditory cues.
Results:
The neurophysiologic study (video-electroencephalographic monitoring) revealed the epileptic nature of the stimulus-induced drop attacks, and the comparative genomic hybridization analysis revealed a microdeletion encompassing the interleukin-1 receptor accessory protein like 1 (IL1RAPL1) gene. The drop attacks were refractory to initial antiepileptic treatment, but they had a satisfactory response to a synthetic adrenocorticotropic hormone analogue.
Conclusions:
The IL1RAPL1 gene is located on Xp21.2-p21.3 and codes a synaptic adhesion protein involved in neuronal differentiation and synapse localization, stabilization, and maturation. The coexistence of startle epilepsy and IL1RAPL1 gene deletion in this child may not be coincidental and suggests a possible involvement of IL1RAPL1 in the dysregulation of excitatory synapses and the pathogenesis of startle epilepsy.
Related Concept Videos
Epilepsy 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...
Seizures l: Introduction
Epilepsy ll: Types
Seizures: 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:
Seizures ll: Types
Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein
SV2A is a transmembrane glycoprotein located predominantly in the brain, modulating the release of neurotransmitters for neuronal communication. Both levetiracetam and brivaracetam exhibit a high affinity for...

