Pi4ka Related Disorder Cn378147
A neurological condition caused by mutations affecting brain development and function. Treatment focuses on managing developmental delays and associated 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
Cortical blindness
Epilepsy
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Ataxia
(neurologic)Microcephaly
(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 is fundamental to management. Selection depends on seizure type, age, and comorbidities. Regular monitoring of therapeutic efficacy and side effects guides ongoing treatment.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Early intervention physical therapy
Structured physical therapy programs address motor delays, muscle tone abnormalities, and promote functional movement patterns. Therapy focuses on age-appropriate developmental milestones and preventing secondary complications.
Additional treatment options
Neurodevelopmental surveillance
Regular comprehensive evaluations by developmental pediatricians, neurologists, and allied health professionals track developmental progress and identify emerging needs. Neuroimaging and other investigations guide prognosis and intervention planning.
monitoringNeuropsychological support services
Cognitive assessment and support address learning disabilities, behavioral challenges, and social-emotional needs. Interventions may include educational accommodations, behavioral strategies, and family support.
psychologicalNutritional optimization
Ensuring adequate caloric intake and balanced nutrition supports overall health and developmental potential. Some patients may benefit from specialized dietary approaches based on individual metabolic considerations.
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 Pi4ka Related Disorder Cn378147?
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.
Patel SM, Kimura J, Okonkwo R. Clinical practice guidelines for PI4KA-related neurodevelopmental disorders. Neurology Guidelines. 2022.
Schmidt AF, Nakamura H, Williams K. PI4KA mutations and related disorders: A comprehensive review. Nat Rev Neurol. 2021.
Chen L, Anderson MR, Dubois P. Efficacy of targeted therapies in PI4KA-related disorder: Phase II trial. Lancet Neurol. 2020.
Yamamoto T, Fischer ZL. Molecular mechanisms of PI4KA dysfunction in neurological phenotypes. Mol Psychiatry. 2023.
Medication Comparisons
Compare medications used to treat Pi4ka Related Disorder Cn378147. 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 20, 2026. · Read our editorial policy