Motor phenotyping in a Greek cohort of patients with neonatal and infantile onset developmental and epileptic encephalopathy.
| Title: | Motor phenotyping in a Greek cohort of patients with neonatal and infantile onset developmental and epileptic encephalopathy. |
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| Authors: | Kollia E; First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, Thivon and Papadiamantopoulou, Athens, 11527, Greece. Electronic address: elizakollia@hotmail.com.; Kokkinou E; First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, Thivon and Papadiamantopoulou, Athens, 11527, Greece. Electronic address: el_kok@otenet.gr.; Outsika C; First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, Thivon and Papadiamantopoulou, Athens, 11527, Greece. Electronic address: chrysa.outsika@gmail.com.; Koltsida G; First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, Thivon and Papadiamantopoulou, Athens, 11527, Greece. Electronic address: gkoltsida@hotmail.com.; Zouvelou V; First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, Thivon and Papadiamantopoulou, Athens, 11527, Greece. Electronic address: bzoubelou@gmail.com.; Vontzalidis A; First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, Thivon and Papadiamantopoulou, Athens, 11527, Greece. Electronic address: avontzalidis@yahoo.com.; Dalivigka Z; Pediatric Rehabilitation Unit, Pan & Aglaias Kyriakou Children's Hospital, Avenue Andrea Syngrou 290, Athens, 17673, Greece. Electronic address: zoidalivigka@gmail.com.; Veltra D; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, Thivon and Levadias 8, Athens, 11527, Greece; Research University Institute for the Study of Genetic and Malignant Disease of Childhood,'Agia Sophia' Children's Hospital, Thivon and Levadias 8, Athens 11527, Greece. Electronic address: dveltra@med.uoa.gr.; Sofocleous C; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, Thivon and Levadias 8, Athens, 11527, Greece. Electronic address: csofokl@med.uoa.gr.; Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, Thivon and Levadias 8, Athens, 11527, Greece; Research University Institute for the Study of Genetic and Malignant Disease of Childhood,'Agia Sophia' Children's Hospital, Thivon and Levadias 8, Athens 11527, Greece. Electronic address: nikomari@med.uoa.gr.; Tilemis FN; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, Thivon and Levadias 8, Athens, 11527, Greece. Electronic address: ftilemis@med.uoa.gr.; Yapijakis C; First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, Thivon and Papadiamantopoulou, Athens, 11527, Greece. Electronic address: cyapi@med.uoa.gr.; Anagnostopoulou KK; Neoscreen Molecular Diagnostic Laboratory, Voriou Ipirou 1-3, 15235, Athens, Greece. Electronic address: kat_anag@yahoo.com.; Loukas YL; Neoscreen Molecular Diagnostic Laboratory, Voriou Ipirou 1-3, 15235, Athens, Greece. Electronic address: loukas@pharm.uoa.gr.; Spanou M; Third Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, University General Hospital 'Attikon', Rimini 1, Athens, 12462, Greece. Electronic address: m.spanou@aol.com.; Dinopoulos A; Third Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, University General Hospital 'Attikon', Rimini 1, Athens, 12462, Greece. Electronic address: argidino@yahoo.com.; Nikaina E; First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, Thivon and Papadiamantopoulou, Athens, 11527, Greece. Electronic address: enikaina@gmail.com.; Skiathitou AV; First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, Thivon and Papadiamantopoulou, Athens, 11527, Greece. Electronic address: askiathitou@yahoo.com.; Siahanidou T; First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, Thivon and Papadiamantopoulou, Athens, 11527, Greece. Electronic address: siahan@med.uoa.gr.; Georgiadou E; First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, Thivon and Papadiamantopoulou, Athens, 11527, Greece. Electronic address: lizettag@yahoo.com.; Moudaki A; First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, Thivon and Papadiamantopoulou, Athens, 11527, Greece. Electronic address: amoudaki@gmail.com.; Lykopoulou E; First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, Thivon and Papadiamantopoulou, Athens, 11527, Greece. Electronic address: lilialykopoulou@gmail.com.; Pons R; First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, Thivon and Papadiamantopoulou, Athens, 11527, Greece. Electronic address: roserpons@med.uoa.gr. |
| Source: | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2025 Mar; Vol. 55, pp. 1-8. Date of Electronic Publication: 2025 Mar 03. |
| Publication Type: | Journal Article |
| Language: | English |
| Journal Info: | Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: London ; Philadelphia : Saunders, c1997- |
| MeSH Terms: | Movement Disorders*/etiology ; Movement Disorders*/physiopathology ; Movement Disorders*/epidemiology ; Spasms, Infantile*/complications ; Spasms, Infantile*/physiopathology ; Spasms, Infantile*/genetics ; Epilepsy*/complications; Greece/epidemiology ; Humans ; Male ; Female ; Phenotype ; Infant ; Retrospective Studies ; Child, Preschool ; Child ; Infant, Newborn ; Cohort Studies ; Adolescent |
| Abstract: | Background: Developmental and epileptic encephalopathy (DEE) includes diseases where there is developmental impairment related to both the underlying etiology independent of epileptiform activity and the epileptic encephalopathy. Patients often present with movement disorders (MD). This study aims to delineate the motor phenotype in a cohort of patients with DEE.; Methods: Retrospective review of 82 patients with DEE. MD type and distribution were documented and when available, video recordings were reviewed.; Results: Patients were classified into five etiological groups: 30.5 % had a likely genetic diagnosis, 29.3 % a confirmed genetic diagnosis, 18.3 % an inborn error of metabolism (IEM), 14.6 % an acquired brain lesion, and 7.3 % a brain dysplasia. Hyperkinetic MDs were present in 85.4 % of patients, including dystonia (48.8 %), stereotypies (22.0 %), chorea (20.7 %), hyperekplexia (15.9 %), tremor (14.6 %), and myoclonus (6.1 %). Parkinsonism was observed in 11 % of patients, ataxia in 8.5 % and multiple MDs in 50 %. Paroxysmal episodes of MD exacerbation occurred in 6 patients, and transient MD in 8. Dystonia was most frequent in patients with acquired brain lesions (p = 0.003). Parkinsonism was more frequent in patients with brain dysplasias and IEM (p = 0.043).; Conclusions: This study confirms the high frequency of hyperkinetic and combined MD in DEE, and identifies characteristic MDs in conditions such SCN8A, FOXG1 and ARX related DEE, as well as ataxia and tremor in STXBP1, SCN1A, MTRFR, KCTD7 and 15q111-13 deletion. Novel observations, include the occurrence of paroxysmal dyskinetic exacerbations in FOXG1, axial stereotypies in KCNQ2, hyperekplexia in cortical dysplasia and Parkinsonism in ECHS1 with DEE.; (Copyright © 2025 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.) |
| Competing Interests: | Conflict of interest The authors declare that there are no conflicts of interest relevant to this work. |
| Contributed Indexing: | Keywords: Chorea; Dystonia; Epilepsy; Hyperekplexia; Movement disorders; Parkinsonism |
| Entry Date(s): | Date Created: 20250311 Date Completed: 20250503 Latest Revision: 20250503 |
| Update Code: | 20260130 |
| DOI: | 10.1016/j.ejpn.2025.03.001 |
| PMID: | 40068485 |
| Database: | MEDLINE |
Journal Article