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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.

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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 Seizure Onset 6 Months
Developmental Delay Onset Developmental Delay Onset Not Available
Seizure Type Seizure Types Focal
Clinical Features Clinical Features Movement Disorder
Seizure Freedom Seizure Freedom Yes, around 1 year old
SCN8A Prognosis Prognosis Significant Improvement
Seizure Onset

Seizure Onset

6 Months

Developmental Delay Onset

Developmental Delay Onset

Not Available

Seizure Type

Seizure Types

Focal

Clinical Features

Clinical Features

Movement Disorder

Seizure Freedom

Seizure Freedom

Yes, around 1 year old

Prognosis

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

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.

Clinicians only came to a strong consensus on the presence of focal seizures among the SeL(F)IE phenotype.

There was strong consensus that epilepsy was expected to improve over time among the SeL(F)IE phenotype.

Keep Exploring 

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.

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