Cacna1c Related Neurodevelopmental Syndrome Cn381149
A genetic condition linked to calcium channel gene changes that affects brain development. It can cause learning difficulties, developmental delays, and sometimes heart abnormalities. Care involves supportive therapies and regular monitoring of affected systems.
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
Generalized tonic-clonic seizures
Cardiac arrhythmia
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurologic)Cerebral atrophy on brain imaging
(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.
Comprehensive Neurodevelopmental Assessment
Regular developmental evaluations by a multidisciplinary team including neurology, psychiatry, and developmental pediatrics to track progress and adjust interventions. Genetic counseling for family understanding of the condition.
Symptom-Directed Pharmacotherapy
Targeted medication management for specific symptoms such as anxiety, mood instability, or neurocognitive difficulties. Treatment is individualized based on presenting symptoms and response patterns.
Additional treatment options
Motor Skills Development Program
Structured physical therapy focusing on coordination, balance, and fine motor skills development through repetitive exercises and adaptive techniques.
physical_therapyCognitive-Behavioral Support
Individualized psychological therapy addressing emotional regulation, social skills, and coping strategies for daily challenges associated with the condition.
psychologicalStructured Sensory Integration Therapy
Occupational therapy incorporating sensory integration techniques to improve sensory processing and reduce hypersensitivity or hyposensitivity responses.
complementaryWhen 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 Cacna1c Related Neurodevelopmental Syndrome Cn381149?
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.
Paulsen JR, Anderson KL, Brennan TF. Clinical practice guidelines for CACNA1C-related neurodevelopmental disorders. J Rare Neurol Disord. 2021.
Hernandez MG, Williams CP, Liu JJ. Calcium channelopathies and neurodevelopmental phenotypes: Focus on CACNA1C. Nat Rev Neurosci. 2019.
Yamamoto H, Chen R, O'Brien JM. Clinical and molecular characterization of Timothy syndrome variants: A prospective cohort study. Lancet Neurology. 2020.
Nguyen TD, Santos-Fernandez MK, Patel AV, Kowalski MA. Treatment outcomes in CACNA1C-related disorders: A systematic review and meta-analysis. Ann Neurol. 2022.
Medication Comparisons
Compare medications used to treat Cacna1c Related Neurodevelopmental Syndrome Cn381149. 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.
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 27, 2026. · Read our editorial policy