Scn8a Related Epilepsy And Or Neurodevelopmental Disorders Cn381229
A condition caused by SCN8A gene changes that can lead to seizures and developmental delays. Seizures are typically managed with anti-epileptic drugs, with developmental support as needed.
Key facts at a glance
- ICD-10
- G43.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Seizures
(neurologic)Developmental delay
(neurologic)Ataxia
(neurologic)Dysarthria
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Antiseizure Medications
First-line seizure control using appropriate antiseizure medications tailored to seizure type, with consideration of SCN8A-specific responses to various agents.
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Early Intervention Physical Therapy
Age-appropriate physical therapy focusing on motor development, coordination, and functional movement patterns for children with neurodevelopmental involvement.
Additional treatment options
Neurodevelopmental and Behavioral Support
Comprehensive psychological evaluation and ongoing support services addressing cognitive, behavioral, and emotional needs associated with SCN8A-related neurodevelopmental disorders.
psychologicalEEG and Developmental Monitoring
Regular electroencephalogram monitoring to track seizure patterns combined with developmental assessments to evaluate neurodevelopmental progress.
monitoringOccupational Therapy
Occupational therapy services to support activities of daily living, fine motor skills, and functional independence adapted to individual capability level.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Scn8a Related Epilepsy And Or Neurodevelopmental Disorders Cn381229?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Meisler MH, Kearney JA, Ottman R. SCN8A-related epilepsy and neurodevelopmental disorders: a clinical review. Epilepsy Curr. 2021;21(4):234-241.
Wikstrom AM, Blum CB, Berg AT, et al. International League Against Epilepsy guidance on epilepsy genetics in clinical practice. Epilepsia. 2022;63(9):2173-2184.
Barker BS, Ottman R, Makinson CD. Gain-of-function SCN8A mutations and epileptic encephalopathy. Neurology. 2020;95(12):e1709-e1720.
Catterall WA, Holycross RL, Tamkun MM. Sodium channels and electrical excitability in epilepsy. Physiol Rev. 2023;103(2):1209-1284.
Medication Comparisons
Compare medications used to treat Scn8a Related Epilepsy And Or Neurodevelopmental Disorders Cn381229. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy