Clinical Report: Detailed Examination of Epileptic Phenotype in MARK2 Variant
Overview
This report presents a case of MARK2-related epilepsy in an 11-year-old male with autism spectrum disorder. The patient experienced nocturnal focal seizures and responded well to perampanel after partial benefit from oxcarbazepine.
Background
Epilepsy is prevalent among children with neurodevelopmental disorders, often sharing genetic etiologies. Understanding the phenotypic spectrum associated with specific gene variants, such as MARK2, is crucial for effective management of these patients. This case highlights the need for detailed characterization of seizure types and treatment responses in patients with genetic variants.
Data Highlights
Characteristic
Details
Patient Age
11 years
First Seizure
5 years 11 months
Seizure Type
Nocturnal tonic and focal impaired-consciousness seizures
EEG Findings
Left temporal sharp waves
Medication Response
Partial benefit from oxcarbazepine; effective response to perampanel
Seizure-Free Duration
Since 9 years 9 months
Key Findings
The patient had a heterozygous pathogenic variant (c.888 + 1G > A) in the MARK2 gene.
Seizures began at age 5 years 11 months, with nocturnal focal impaired-consciousness seizures noted.
EEG abnormalities were present in 72.7% of patients reviewed, with focal epileptiform discharges being the most common.
No major structural abnormalities were found on brain MRI in the patient.
Perampanel was effective in reducing seizures after partial response to oxcarbazepine.
This case provides the first detailed longitudinal account of MARK2-related epilepsy.
Clinical Implications
Clinicians should consider genetic testing for patients with epilepsy and neurodevelopmental disorders, particularly for those with atypical seizure presentations. The findings suggest that MARK2-related epilepsy may respond to standard focal-seizure pharmacotherapy, emphasizing the importance of individualized treatment plans.
Conclusion
This case underscores the significance of detailed clinical descriptions in understanding MARK2-related epilepsy and its treatment. Further longitudinal studies are needed to better characterize the seizure phenotypes associated with MARK2 variants.
