{"doi":"10.1002/mds.30286","title":"Recessive Loss of <scp> <i>PI4K2A</i> </scp> Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia","abstract":"BACKGROUND: Biallelic 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. OBJECTIVES: The aims were to highlight orolingual dyskinesia as a core feature of PI4K2A-related disorder (PI4K2A-RD) and explore its presence across other NDDs. METHODS: We 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. RESULTS: All 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. CONCLUSIONS: Orolingual 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.","journal":"Movement Disorders","year":2025,"id":536509,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9558,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1035693,"name":"Juan Darío Ortigoza‐Escobar","orcid":"0000-0002-6320-2641","position":1,"is_corresponding":false},{"id":1235824,"name":"Pooja Rohilla","orcid":"0000-0001-7771-0615","position":2,"is_corresponding":false},{"id":1334054,"name":"Javeria Raza Alvi","orcid":"0000-0002-3452-1862","position":3,"is_corresponding":false},{"id":1421321,"name":"Aziza Mushiba","orcid":"0000-0001-5795-6423","position":4,"is_corresponding":false},{"id":281487,"name":"Naif A. M. Almontashiri","orcid":"0000-0003-3607-395X","position":5,"is_corresponding":false},{"id":242883,"name":"Stéphanie Efthymiou","orcid":"0000-0003-4900-9877","position":6,"is_corresponding":false},{"id":342954,"name":"Tipu Sultan","orcid":"0000-0001-9398-2127","position":7,"is_corresponding":false},{"id":307537,"name":"Tamás Balla","orcid":"0000-0002-9077-3335","position":8,"is_corresponding":false},{"id":52692,"name":"Henry Houlden","orcid":"0000-0002-2866-7777","position":9,"is_corresponding":false},{"id":281488,"name":"Reza Maroofian","orcid":"0000-0001-6763-1542","position":0,"is_corresponding":true}],"reference_count":24,"raw_metadata":null,"created_at":"2026-07-19T02:52:05.227140Z","pmid":"40879273","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}