SLC6A1-related disorder

This code represents a rare genetic neurological disorder caused by pathogenic variants in the SLC6A1 gene. Patients typically present with a spectrum of neurodevelopmental issues, including intellectual disability, epilepsy (often absence seizures or myoclonic-atonic epilepsy), ataxia, and behavioral problems such as autism spectrum disorder or ADHD.

Use this code when documentation confirms a diagnosis of an SLC6A1-related disorder, typically established through genetic testing identifying a pathogenic or likely pathogenic variant in the SLC6A1 gene. This diagnosis is often made in individuals presenting with early-onset epilepsy and developmental delays.

• Ensure genetic testing results or a confirmed clinical diagnosis by a neurologist or geneticist are present in the medical record.
• Code any associated neurological manifestations (e.g., specific types of epilepsy, intellectual disability, ataxia) as secondary diagnoses.
• Do not confuse with other genetic epilepsies unless SLC6A1 involvement is explicitly documented.