Evidence map›Paper›PMID 40879273›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2025

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

Reza Maroofian, Juan Darío Ortigoza-Escobar, Pooja Rohilla, Javeria Raza Alvi, Aziza M Mushiba, Naif A M Almontashiri, Stephanie Efthymiou, Tipu Sultan, Tamas Balla, Henry Houlden

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In one paragraph

Article in Movement disorders : official journal of the Movement Disorder Society, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Reza MaroofianDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
Juan Darío Ortigoza-EscobarMovement Disorders Unit, Pediatric Neurology Department, Institut de Recerca Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.ORCID https://orcid.org/0000-0002-6320-2641
Pooja RohillaSection on Molecular Signal Transduction, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Javeria Raza AlviDepartment of Pediatric Neurology, Institute of Child Health, Children Hospital Lahore, Lahore, Pakistan.
Aziza M MushibaClinical Genetic Section, Pediatric Subspecialties Department, Children's Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Naif A M AlmontashiriCenter for Genetics and Inherited Diseases and Clinical Laboratory Sciences, Taibah University, Madinah, Saudi Arabia.
Stephanie EfthymiouDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
Tipu SultanDepartment of Pediatric Neurology, Institute of Child Health, Children Hospital Lahore, Lahore, Pakistan.
Tamas BallaSection on Molecular Signal Transduction, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Henry HouldenDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.ORCID https://orcid.org/0000-0002-2866-7777

Funding

Development and Innovation Authority (RDIA), Kingdom of Saudi Arabia Award # 12996-iau-2023-TAU-R-3-1-HW
6 · The paper itself

Abstract

backgroundBiallelic loss-of-function variants in PI4K2A have been associated with a neurodevelopmental disorder characterized by seizures and movement disorders, including orofacial dyskinesia. However, only 4 cases have been reported. Orolingual dyskinesia-defined as involuntary movements of the mouth and tongue-is observed in various pediatric neurodevelopmental disorders (NDD) but remains under-recognized.

objectivesThe aims were to highlight orolingual dyskinesia as a core feature of PI4K2A-related disorder (PI4K2A-RD) and explore its presence across other NDDs.

methodsWe described two new families with PI4K2A-RD and reviewed the clinical features of four previously reported cases. A focused literature search was also conducted to identify other neurogenetic conditions associated with orolingual dyskinesia.

resultsAll individuals with PI4K2A deficiency exhibited orolingual dyskinesia, along with developmental delay, movement abnormalities, and variable seizures. The literature review confirmed frequent underreporting of this feature in NDDs.

conclusionsOrolingual dyskinesia is a relevant but under-recognized clinical sign in PI4K2A-RD and other neurogenetic conditions, with potential diagnostic value. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Indexed as

Developmental DisabilitiesDyskinesiasMovement DisordersNeurodevelopmental DisordersPhosphotransferases (Alcohol Group Acceptor)ChildChild, PreschoolFemaleHumansMaleMinor Histocompatibility AntigensMinor Histocompatibility Antigensphosphatidylinositol phosphate 4-kinasePhosphotransferases (Alcohol Group Acceptor)developmental and epileptic encephalopathiesgenetic variantsneurodevelopmental disordersOrolingual dyskinesiapediatric movement disordersPI4K2A

Identifiers

PMID40879273
PMCPMC13001697

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