Developmental And Epileptic Encephalopathy 98 C5562017
A severe genetic condition causing developmental delay and frequent seizures from early childhood. Treatment focuses on seizure control and supportive care, with emerging genetic therapies under study.
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)Developmental delay
(neurologic)EEG abnormalities
(neurologic)Ataxia
(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
ASM Gene-Specific Antiseizure Therapy
Targeted antiseizure medication based on the specific genetic variant identified in the ASXL gene. Precision medicine approach selecting medications with highest likelihood of seizure control based on underlying channelopathy or synaptic dysfunction.
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Modified Ketogenic Diet
Metabolic therapy using high-fat, adequate-protein, low-carbohydrate nutrition to induce ketogenesis. This dietary approach may reduce seizure frequency through altered neuronal excitability and improved mitochondrial function.
Additional treatment options
Vagus Nerve Stimulation Implantation
Surgical implantation of a device delivering electrical stimulation to the vagus nerve, modulating neuronal circuits involved in seizure generation. This neuromodulation therapy provides adjunctive seizure control for drug-resistant cases.
procedureIntensive Early Intervention Program
Multidisciplinary therapy combining physical, occupational, and speech therapy to maximize developmental potential during critical neuroplasticity windows. Focus on motor skills, functional mobility, and adaptive equipment needs.
physical_therapyFamily-Centered Behavioral Support
Comprehensive psychological support addressing caregiver burden, behavioral challenges, sleep disturbances, and family system dynamics. Includes parent coaching, coping strategies, and connection to support networks.
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 98 C5562017?
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