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Autism Spectrum Disorder Associated With a CACNA1I Variant of Uncertain Significance: A Case Report
Mohammed A Al Medawi1, Majed M Alshehri1, Mohammed Saeed ALmasodi Asiri2
1Psychiatry, Armed Forces Hospital - Southern Region, Khamis Mushait, SAU.
Cureus
|March 9, 2026
Summary
This case study identifies a CACNA1I gene variant in a child with autism spectrum disorder (ASD) and significant speech impairment. The findings highlight challenges in diagnosing genetic contributions to neurodevelopmental conditions.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Ion Channel Function
Background:
- Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component.
- Ion channel dysfunction is increasingly implicated in ASD phenotypes.
- Understanding genetic variants is crucial for diagnosing and managing ASD.
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