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PRRT2 gene mutations associated with infantile convulsions induced by sucking and the genotype-phenotype correlation

De-Tian Liu1, Xue-Qing Tang1, Rui-Ping Wan2

  • 1Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Institute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

Frontiers in Neurology
|August 12, 2022
PubMed

Insights

Feeding, particularly vigorous sucking, can trigger infantile convulsions in infants with PRRT2 mutations. Adjusting feeding behaviors may help prevent these seizures, highlighting a key genotype-phenotype correlation.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • PRRT2 gene mutations are linked to infantile epilepsy and dyskinesia.
  • Triggers for seizures in infants with PRRT2 mutations are not well understood.

Purpose of the Study:

  • Investigate genetic causes of infantile convulsions.
  • Identify triggers for seizures in infants with PRRT2 mutations.
  • Analyze genotype-phenotype correlations in PRRT2-related disorders.

Main Methods:

  • Targeted next-generation sequencing (NGS) of a gene panel in 45 infants with convulsions.
  • Copy number variation detection using normalized depth of coverage and RT-qPCR.
  • Genotype-phenotype correlation analysis.

Main Results:

  • A de novo PRRT2 deletion was found in an infant whose seizures were triggered by vigorous sucking during feeding.
  • Ictal EEG confirmed focal epileptic seizures in the infant.
  • Six of 18 (33.3%) previously reported patients with PRRT2 mutations experienced feeding-related seizures.

Conclusions:

  • Feeding, especially vigorous sucking, is a potential seizure trigger in infants with PRRT2 mutations.
  • Modifying feeding behaviors may be crucial for seizure prevention.
  • PRRT2 haploinsufficiency mutations show a genotype-phenotype correlation with feeding-induced infantile convulsions.
Abstract

Keywords:
PRRT2genotype-phenotype correlationinfantile convulsionseizuressucking-induced

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