Epilepsy in Menkes disease: an electroclinical long-term study of 28 patients

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Epilepsy is a significant and severe manifestation of Menkes disease (MD).
• Limited research exists on the long-term progression of epilepsy in children with MD.
• This study examines 28 epileptic MD patients, detailing their clinical, EEG, and neuroimaging features, along with long-term outcomes.

Purpose of the Study:

• To investigate the long-term evolution of epilepsy in Menkes disease patients.
• To analyze the efficacy of copper-histidine treatment on epilepsy in MD.
• To characterize seizure types and neurological outcomes in epileptic MD.

Main Methods:

• Analysis of EEG, clinical data, and neuroimaging in 28 MD patients with epilepsy.
• Long-term follow-up (≥4 years) of seizure types and neurological status.
• Comparison between 16 patients treated with subcutaneous copper-histidine and 12 untreated patients.

Main Results:

• Focal seizures (FS) and infantile spasms (IS) were prevalent at epilepsy onset.
• During follow-up, diverse seizure types emerged, including generalized tonic-clonic seizures (GCT), IS, FS, myoclonic jerks, and status epilepticus (SE).
• Antiepileptic drug therapy showed limited efficacy; copper-histidine treatment demonstrated no significant benefit on neurological outcomes or epilepsy control.

Conclusions:

• Epilepsy in Menkes disease presents a treatment-resistant challenge.
• Seizure types evolve over time, with initial FS and IS often followed by other seizure manifestations.
• Current evidence suggests copper-histidine replacement therapy is not beneficial for managing epilepsy in MD.