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One case of acute encephalopathy associated with 16p11.2 deletion and PRRT2 gene mutation

SiYu Shang1, QiuHong Wang2, JiaNing Wang3

  • 1Inner Mongolia Medical University, Hohhot, Inner Mongolia, China.

BMC Neurology
|July 1, 2026
PubMed
Abstract

Insights

A 16p11.2 deletion involving PRRT2 was identified in a patient with acute encephalopathy and ataxia. This first-time presentation highlights the expanded phenotypic spectrum of PRRT2-related disorders and the need for genetic testing.

Area of Science:

  • Genetics
  • Neurology

Background:

  • The PRRT2 gene is linked to paroxysmal kinesigenic dyskinesia (PKD) and benign familial infantile epilepsy (BFIE).
  • Understanding the full spectrum of PRRT2-associated phenotypes is crucial for diagnosis and management.

Purpose of the Study:

  • To investigate the phenotypic spectrum of PRRT2 mutations.
  • To analyze a patient with a 16p11.2 deletion encompassing the PRRT2 gene.

Main Methods:

  • Retrospective analysis of a patient with a 16p11.2 deletion including PRRT2.
  • Comprehensive literature search (CNKI, Wanfang, PubMed) for similar cases using keywords like 'acute encephalopathy', 'PRRT2', '16p11.2 deletion'.

Main Results:

  • The patient presented with infection-induced acute encephalopathy, movement disorders, and ataxia.
  • Genetic testing revealed a de novo 16p11.2 deletion involving PRRT2.
  • Literature review identified two similar international cases; one with a 16p11.2 deletion and another with a PRRT2 gene variation.

Conclusions:

  • The 16p11.2 deletion encompassing PRRT2 is reported for the first time to cause acute encephalopathy.
  • This case expands the known phenotypes associated with PRRT2, including paroxysmal non-motor-induced movement disorder (PNKD) and ataxia.
  • Emphasizes the importance of genetic testing and counseling for unexplained acute encephalopathy, episodic movement disorders, and ataxia.
Keywords:
PRRT2 gene16th chromosome copy number variationAcute encephalopathyAcute episodic ataxiaAcute episodic movement disorder

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