Developmental And Epileptic Encephalopathy 86 C5394462
A severe developmental and epileptic encephalopathy causing early seizures and developmental regression or delay. Management involves anti-seizure medications and supportive therapies.
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.
Warning signs - seek immediate care
Seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Profound intellectual disability
(neurologic)Ataxia
(neurologic)Cortical visual impairment
(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
Anti-seizure medications (ASMs)
Individualized anti-seizure medication regimen based on seizure classification and patient response. Given the severe nature of ASXL3-related encephalopathy, combination therapy may be considered.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Early intensive developmental therapy
Multidisciplinary early intervention including physical, occupational, and speech therapy to maximize neurodevelopmental potential during critical periods.
Additional treatment options
Behavioral and cognitive interventions
Structured behavioral support and cognitive interventions to address developmental delays, behavioral challenges, and optimize functional abilities.
psychologicalModified Atkins diet or ketogenic diet
Metabolic dietary therapies that may provide anticonvulsant effects and potentially improve developmental outcomes in some patients.
dietaryMultidisciplinary surveillance
Regular monitoring by neurology, developmental pediatrics, genetics, and allied health professionals to manage complex care needs.
monitoringWhen 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 86 C5394462?
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