Self-Limited (Familial) Infantile Epilepsy
Understanding SeL(F)IE: A Specific Form of Familial Infantile Epilepsy, Characterized by a
Range of Associated Health Conditions, requiring tailored and proactive care for each person.
SeL(F)IE
Self-Limited (Familial) Infantile Epilepsy (SeL(F)IE) is a phenotype within SCN8A-related disorders where consensus on specific, frequent comorbidities remains elusive, reflecting its variable and often less severe nature. Despite the uncertain landscape of comorbidities, the emphasis on early, multidisciplinary care is unanimous, advocating for interventions like therapy, social support, and specialized consultations. SeL(F)IE underscores the necessity of tailored care and the importance of caregiver engagement in research and advocacy for optimizing outcomes.
| Seizure Onset | 6 Months | |
| Developmental Delay Onset | Not Available | |
| Seizure Types | Focal | |
| Clinical Features | Movement Disorder | |
| Seizure Freedom | Yes, around 1 year old | |
| Prognosis | Significant Improvement |
Seizure Onset
6 Months
Developmental Delay Onset
Not Available
Seizure Types
Focal
Clinical Features
Movement Disorder
Seizure Freedom
Yes, around 1 year old
Prognosis
Significant Improvement
Treatment
Optimal first-line medications | Oxcarbazepine, Carbamazepine |
Medications to be cautious of | Levitracitacitam |
Important considerations | Gain-of-function (GOF) variants are more common, so sodium channel blockers are preferred. Levetiracetam may worsen seizures and is generally avoided in patients with GOF variants. Ketogenic diet can be helpful |
Rescue Medication | IV phenytoin or phenytoin are recommended for status epilepticus |
Clincal Features
Among the SeL(F)IE phenotype, there was no consensus regarding comorbid conditions. However, speech/communication delays and fine motor delays received the highest consensus.
Seizure Types
Clinicians only came to a strong consensus on the presence of focal seizures among the SeL(F)IE phenotype.
Prognosis
There was strong consensus that epilepsy was expected to improve over time among the SeL(F)IE phenotype.
Rescue Medications
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IMPORTANT: While this consensus data provides new and valuable insights about best practices in the diagnosis and treatment of SCN8A, this is not medical advice. It can inform clinicians and caregivers alike in developing optimal treatment plans for each individual.