Early Exome Sequencing for an Infant With Paroxysmal Eye Movements Reveals a Monogenic Etiology for Spasmus Nutans

Puntos clave

• Spasmus nutans can be linked to a specific genetic cause.
• Exome sequencing revealed a monogenic etiology in a single case of an infant.
• The findings highlight the potential of genetic testing for diagnosing rare conditions.
• Early identification may lead to better management and understanding of paroxysmal eye movements.