To present a case of MARK2-related epilepsy and review previously reported cases, with a focus on seizure phenotypes and their longitudinal progression.
Key Findings:
The patient had his first seizure at 5 years 11 months, characterized by recurrent nocturnal seizures and focal status epilepticus.
Oxcarbazepine provided partial benefit, while perampanel effectively reduced seizures.
EEG abnormalities were present in 72.7% of reviewed patients, with focal epileptiform discharges being the most common finding.
Interpretation:
This case provides the first detailed clinical description of MARK2-related epilepsy, emphasizing the need to recognize specific seizure types and treatment responses in patients with genetic variants.
Limitations:
The limited number of previously reported cases restricts comprehensive analysis.
The lack of longitudinal data on seizure evolution and treatment responses in existing literature limits the understanding of the condition.
Conclusion:
The findings underscore the necessity for detailed clinical descriptions of genetic epilepsy syndromes to inform treatment strategies effectively.
Over two days, specialists across neurology, neurosurgery and related subspecialties came together to discuss advances in stroke care, epilepsy, movement disorders, neurodegenerative disease, neuro-oncology, brain and spine surgery, interventional pain management and emerging technologies.
