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 | 24 - 48 Months | |
| Developmental Delay Onset | 12 - 60 Months | |
| Seizure Types | Absence, Generalized Tonic-Clonic | |
| Clinical Features | Delayed Language, Some Cognitive Understanding | |
| Seizure Freedom | Some/Most of the Time | |
| Prognosis | Limited Change to Improvement |
Seizure Onset
24 – 48 Months
Developmental Delay Onset
12 – 60 Months
Seizure Types
Absence, Generalized Tonic-Clonic
Clinical Features
Delayed Language, Some Cognitive Understanding
Seizure Freedom
Some/Most of the Time
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 |
Clincal Features
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.
Seizure Types
There was strong clinician consensus on the presence of GTCS and Absence seizures, and no consensus regarding the presence of additional seizure types.
Prognosis
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.