Developmental And Epileptic Encephalopathy 3 C5574665
A severe genetic form of epilepsy with early-onset seizures and impaired development. Treatment aims to control seizures and provide developmental support, with ongoing research into targeted approaches.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Seizures
(neurologic)Intellectual disability
(neurologic)Cortical visual impairment
(neurologic)Dystonia
(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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
SCN2A-Channel-Targeted Antiseizure Protocol
ASMs selected based on SCN2A channel dysfunction characteristics, with sodium channel modulators for gain-of-function variants and sodium channel blockers avoided in severe neonatal-onset cases. Phenotypic guidance informs medication selection.
Sodium Channel Blocker Optimization
Strategic use of sodium channel-blocking agents such as phenytoin, oxcarbazepine, or lacosamide based on age of onset and functional consequences of the specific sodium channel variant. Requires individualized titration and monitoring.
Additional treatment options
Low Glycemic Index Treatment
Less restrictive alternative to classic ketogenic diet using low glycemic index foods to maintain glucose stability without strict ketone monitoring. May provide seizure reduction with improved tolerability for long-term use.
dietaryNeurodevelopmental Rehabilitation
Goal-directed therapy addressing motor delays, muscle tone abnormalities, and functional limitations through repetitive practice, positioning, and adaptive equipment. Incorporates principles of neuroplasticity and motor learning.
physical_therapyCognitive-Behavioral Intervention for Families
Evidence-based psychological approaches addressing behavioral challenges, emotional regulation, and family stress management. Includes parent training, coping skills, and linkage to community resources for developmental disabilities.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Developmental And Epileptic Encephalopathy 3 C5574665?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy