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Updated: Sep 9, 2025

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Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent

Reza Maroofian1, Juan Darío Ortigoza-Escobar2,3,4, Pooja Rohilla5

  • 1Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.

Movement Disorders : Official Journal of the Movement Disorder Society
|August 29, 2025
PubMed
Abstract

Insights

Orolingual dyskinesia is a key sign of PI4K2A-related disorder and other neurodevelopmental conditions. Recognizing this movement disorder can aid diagnosis in affected children.

Area of Science:

  • Neurogenetics
  • Movement Disorders
  • Pediatric Neurology

Background:

  • Biallelic loss-of-function variants in PI4K2A gene are linked to neurodevelopmental disorders.
  • Symptoms include seizures and movement disorders, notably orofacial dyskinesia.
  • Orolingual dyskinesia is under-recognized in pediatric neurodevelopmental disorders (NDD).

Purpose of the Study:

  • To establish orolingual dyskinesia as a core feature of PI4K2A-related disorder (PI4K2A-RD).
  • To investigate the prevalence of orolingual dyskinesia in other NDDs.

Main Methods:

  • Described two new families with PI4K2A-RD.
  • Reviewed clinical data from four previously reported cases.
  • Conducted a literature search for NDDs associated with orolingual dyskinesia.

Main Results:

  • All individuals with PI4K2A deficiency presented with orolingual dyskinesia.
  • Other common symptoms included developmental delay, movement abnormalities, and seizures.
  • Literature review indicated frequent underreporting of orolingual dyskinesia in NDDs.

Conclusions:

  • Orolingual dyskinesia is an important, yet under-recognized, clinical sign in PI4K2A-RD.
  • This sign holds potential diagnostic value for PI4K2A-RD and other neurogenetic conditions.
Keywords:
Orolingual dyskinesiaPI4K2Adevelopmental and epileptic encephalopathiesgenetic variantsneurodevelopmental disorderspediatric movement disorders

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