Related Experiment Video
Updated: Feb 22, 2026
Simultaneous Video-EEG-ECG Monitoring to Identify Neurocardiac Dysfunction in Mouse Models of Epilepsy
Published on: January 29, 2018
CACNA1A-related early-onset encephalopathy with myoclonic epilepsy: A case report
Takuya Hayashida1, Yoshiaki Saito1, Atsushi Ishii2
1Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.
Insights
A severe genetic epilepsy case in a one-year-old boy showed early-onset myoclonic epilepsy and developmental arrest. Genetic analysis revealed a CACNA1A gene mutation, indicating a severe form of early-onset encephalopathy.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Early-onset epilepsy poses significant challenges in diagnosis and management.
- Developmental arrest and hyperekplexia are severe symptoms often associated with specific genetic conditions.
Observation:
- A one-year-old boy presented with severe, refractory myoclonic/tonic seizures since birth, developmental arrest, and hyperekplexia.
- Electroencephalography showed multifocal spikes and rhythmic activities correlating with myoclonus and tonic posturing.
- Brain MRI revealed progressive cerebral atrophy, periventricular changes, and a thin corpus callosum.
Findings:
- A de novo heterozygous missense mutation in the CACNA1A gene was identified as the cause.
- This represents the most severe phenotype of CACNA1A-related early-onset encephalopathy reported to date.
Implications:
- This case underscores the critical role of CACNA1A gene mutations in severe early-onset epileptic encephalopathies.
- Understanding these severe phenotypes aids in diagnosis and potential therapeutic strategies for related neurological disorders.
- Further research into CACNA1A-associated conditions is crucial for advancing pediatric epilepsy treatment.
Abstract:
We report a one-year-old boy with early-onset myoclonic epilepsy, developmental arrest, and hyperekplexia during early infancy. He presented with refractory myoclonic/tonic seizures since birth. Electroencephalography revealed multifocal spikes, and rhythmic activities that occurred simultaneous with aggravation of myoclonus accompanied by tonic upper limb elevation. Brain magnetic resonance imaging revealed progressive cerebral atrophy with periventricular signal change and thin corpus callosum at one year of age. A de novo heterozygous missense mutation in the CACNA1A gene was confirmed. This patient was the most severe phenotype of CACNA1A-related early-onset encephalopathy among previous reports.
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...