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NDD with Generalized Epilepsy

Discover NDD with Generalized Epilepsy (NDDwGE), an SCN8A phenotype characterized by developmental challenges alongside seizures, yet with a promising outlook for advancement.

NDD w/ GE

NDD with Generalized Epilepsy (NDDwGE) is a SCN8A phenotype where individuals experience mild to moderate developmental challenges, including speech and communication delays, intellectual disabilities, and sleep disturbances. Unlike the more severe DEE, symptoms in NDDwGE are less intense and show a higher likelihood of improvement. Clinician consensus highlights a cautiously optimistic prognosis, with a significant portion of affected individuals witnessing progress over time.

Seizure Onset Seizure Onset 24 - 48 Months
Developmental Delay Onset Developmental Delay Onset 12 - 60 Months
Seizure Type Seizure Types Absence, Generalized Tonic-Clonic
Clinical Features Clinical Features Delayed Language, Some Cognitive Understanding
Seizure Freedom Seizure Freedom Some/Most of the Time
SCN8A Prognosis Prognosis Limited Change to Improvement
Seizure Onset

Seizure Onset

24 – 48 Months

Developmental Delay Onset

Developmental Delay Onset

12 – 60 Months

Seizure Type

Seizure Types

Absence, Generalized Tonic-Clonic

Clinical Features

Clinical Features

Delayed Language, Some Cognitive Understanding

Seizure Freedom

Seizure Freedom

Some/Most of the Time

Prognosis

Prognosis

Limited Change to Improvement 

Treatment

Optimal first-line medications

Valproate, Ethosuximide, Lamotrigine

Medications to be cautious of

Sodium Channel Blockers

Important considerations

Ketogenic diet can be helpful

Rescue Medication

IV phenytoin or phenytoin are recommended for status epilepticus

This table shows consensus levels for severity and expected change over time among common comorbidities. Compared with severe DEE, NDD with generalized epilepsy comorbidities are less severe, however most Cognition/ID comorbidities are expected to progress similarly or worse than severe DEE.

There was strong clinician consensus on the presence of GTCS and Absence seizures, and no consensus regarding the presence of additional seizure types. 

NDD with generalized epilepsy can expect limited change to significant improvement for epilepsy, cognition, and development. While there is no consensus on this for cognition and development, epilepsy shows modest conensus and the biggest potential for improvement.

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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.

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