SCN2A-related neurodevelopmental disorder

This code represents a neurodevelopmental disorder caused by pathogenic variants in the SCN2A gene. It encompasses a spectrum of conditions ranging from benign familial infantile epilepsy to severe developmental and epileptic encephalopathy, often characterized by intellectual disability, autism spectrum disorder, and various seizure types. The clinical presentation is highly variable, reflecting the diverse functional consequences of SCN2A mutations.

Use this code when genetic testing confirms a pathogenic or likely pathogenic variant in the SCN2A gene in a patient presenting with neurodevelopmental symptoms, seizures, or both. Documentation should clearly state the genetic diagnosis and the associated clinical manifestations. This code is appropriate for both initial diagnosis and ongoing management of the condition.

• Ensure genetic testing results confirming the SCN2A mutation are present in the patient's medical record.
• Code any specific neurological manifestations (e.g., intellectual disability, epilepsy, autism spectrum disorder) separately as secondary diagnoses.
• Do not use this code for SCN2A variants of uncertain significance (VUS) without a clear clinical correlation.