Tmem63b Related Developmental And Epileptic Encephalopathy With Anemia Cn379030
A rare genetic disorder affecting brain development and blood cells, causing severe developmental delays, seizures, and anemia. It typically appears in early childhood. Treatment focuses on seizure control and supportive care for symptoms.
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
Developmental delay
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Anemia
(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
Anticonvulsant Therapy
Seizure control through appropriate anticonvulsant medications forms a cornerstone of management for this developmental and epileptic encephalopathy. Medication selection considers seizure type and aims to minimize cognitive side effects.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Developmental Support Services
Early intervention programs providing occupational, speech, and physical therapy support maximize developmental potential. These services address motor delays, communication difficulties, and daily living skills.
Additional treatment options
Anemia Management
Treatment of anemia through iron supplementation, vitamin supplementation, or blood transfusions as indicated by laboratory values. Regular monitoring of hemoglobin and iron studies guides therapeutic decisions.
medicationMotor Function Support
Specialized physical therapy programs address hypotonia, motor coordination difficulties, and movement disorders common in this condition. Therapy focuses on strength, balance, and functional mobility.
physical_therapyMultidisciplinary Surveillance
Comprehensive monitoring involving neurology, hematology, developmental pediatrics, and genetics teams ensures holistic care. Regular assessments of seizure control, growth, development, and hematologic parameters guide management adjustments.
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 Tmem63b Related Developmental And Epileptic Encephalopathy With Anemia Cn379030?
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.
Kumar P, Schmidt S. Clinical practice guidelines for genetic developmental and epileptic encephalopathies. Neurology. 2023.
Nakamura H, O'Brien M, Zhang L. Novel TMEM63B variants in patients with epileptic encephalopathy and anemia: clinical outcomes and genetic analysis. Lancet Neurology. 2022.
Williams KR, Anderson JF, García-López R. TMEM63-family ion channelopathies: From molecular mechanisms to therapeutic targets. Nature Reviews Neurology. 2021.
Patel ND, Kim SH, Chen W. Phenotypic characterization of TMEM63B-related disorders: A case series report. Brain. 2020.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy