KCNT1 Epilepsy Types: Deep Dive
EIMFS / MMPSI (Epilepsy of Infancy with Migrating Focal Seizures)
Onset: Usually before 6 months, sometimes within the first few weeks of life.
Seizures: Focal seizures that “migrate” between brain regions, often unnoticed at first.
- Signs: facial twitching, eye deviation, hiccups, color changes, brief apnea
- Rapid escalation to high-frequency, medication-resistant seizures
EEG Findings: Migration pattern across hemispheres
Development: Profound developmental delay is common due to the early and severe
seizure burden
Common Comorbidities: Feeding difficulties, sleep disruption, increased risk for
infections
Management:
- Early ketogenic diet may help reduce seizures
- Multiple AEDs may be trialed, often with limited success
- Close respiratory and nutritional monitoring is essential
Infantile Spasms (IS)
Early-Onset Epileptic Encephalopathy (EOEE)
- – Seizure Types: Tonic seizures, spasms, myoclonic movements, or generalized seizures
- – EEG: Diffuse slowing, suppression burst patterns, or multifocal spikes
- Seizures may be briefly controlled but often become intractable
- Developmental regression is frequent following seizure onset
- This category is often used early in diagnosis, before a more specific syndrome is identified
ADSHE / ADSHE (Autosomal Dominant Sleep-Related Hypermotor Epilepsy)
