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Episodic ataxia in child with 16p11.2 deletion including PRRT2.

Proximal Deletion,

All,

This case report shows that some children with a 16p11.2 deletion involving the PRRT2 gene may have treatable, trigger‑related episodes of ataxia, seizures, or movement difficulties, helping families and clinicians recognize that episodic balance or movement symptoms—especially after illness or metabolic stress—may be part of the 16p11.2 picture and can improve with the right diagnosis and medication.

Motor Coordination,