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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ejpn.2025.03.001 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Seizures, Driver Licensure, and Medical Reporting Update: An AAN Position Statement.
Neurology
April 2025
School of Law, University of Virginia, Charlottesville.
This consensus position statement of the American Academy of Neurology, American Epilepsy Society, and Epilepsy Foundation of America updates prior 1994 and 2007 position statements on seizures, driver licensure, and medical reporting. Key consensus positions include the following: (1) in the United States, national driving standards promulgated through a system such as the Uniform Law Commission would reduce confusion and improve adherence with state driving standards; (2) state licensing criteria for medical conditions should be promulgated by regulations and guidelines based on enabling legislation rather than in statutes themselves and should be developed by medical advisory boards working in collaboration with departments of motor vehicles; (3) licensing criteria should be equitable, nondiscriminatory, objective, and compatible with comparable risks in other populations; (4) a minimum seizure-free interval of 3 months should ordinarily be required before driving in all cases and should be extended in individual cases based on review of favorable and unfavorable features by medical advisory boards; (5) individuals with exclusively provoked seizures attributable to provoking factors that are unlikely to reoccur in the future may not require a seizure-free interval before resuming driving; (6) individuals with previously well-controlled epilepsy who experience seizures due to short-term interruptions of antiseizure medications in the setting of hospitalization or practitioner-directed medication-titration may not require a seizure-free interval before driving once previously effective levels of antiseizure medications have been resumed; (7) patients and practitioners should pause driving during tapering and following discontinuation of an antiseizure medication if another such medication is not introduced; (8) individuals whose cognition or coordination is impaired due to medications used to prevent seizures should refrain from driving; (9) health care practitioners should be allowed but not mandated to report drivers who pose an elevated risk; but (10) neither a decision to report a patient suspected of being at elevated risk nor a decision declining to report a patient suspected of being at elevated risk should be subject to legal liability; (11) nations, states, and municipalities should provide alternative methods of transportation and accommodations for individuals whose driving privileges are restricted due to medical conditions.
View Article and Find Full Text PDFImmunity and neuroinflammation in early stages of life and epilepsy.
Epilepsia
March 2025
Departamento de Neurologia e Neurocirurgia, Escola Paulista de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, Brazil.
The immune system is crucial for the correct brain development, and recent findings also point toward central control of immune response. As the immune system is not fully developed at birth, the early years become an important window for infections and for the development of epilepsy. Both central and even peripheral inflammation may impact brain function, promoting opening of the blood-brain/blood and cerebrospinal barriers and allowing entry of immune cells and cytokines, which in turn may affect neuron function and connections.
View Article and Find Full Text PDFNeonatal/infantile-onset genetic epilepsies: The utility of genetic testing for molecular etiology-specific diagnosis concerning therapeutic implications.
Epileptic Disord
March 2025
Division of Child Neurology, Department of Pediatrics, Ege University Medical Faculty, Izmir, Turkey.
Objective: To evaluate the significance of genetic testing in neonatal- and infantile-onset genetic epilepsies (NIGEP) for enhanced molecular diagnosis with management implications.
Methods: A single-center cohort of 128 patients with NIGEP (aged 0-36 months) from 2010 to 2022 was retrospectively assessed. The diagnostic utility of genetic testing, including next-generation sequencing (NGS) and chromosome-based approaches, was surveyed to determine their impact on antiseizure medication adjustments and precision medicine.
Applications and Predictors of Outcomes Following Stereo-Electroencephalography in Pediatric Patients With Drug-Resistant Epilepsy.
CNS Neurosci Ther
March 2025
Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China.
Aims: This study aims to evaluate the role of stereo-electroencephalography (SEEG) in managing pediatric patients with drug-resistant epilepsy. We further explore prognostic factors influencing surgical outcomes following SEEG-guided resective or disconnective surgery.
Methods: A retrospective review was conducted on pediatric patients who underwent SEEG at the Pediatric Epilepsy Center, Peking University First Hospital, between July 2017 and July 2022.
Analysis of the Correlation between Frailty Index, Clinical Characteristics, Use of Anti-Epileptic Drug, and Prognosis in Elderly Patients with Epilepsy.
Actas Esp Psiquiatr
March 2025
Department of Geriatrics, Affiliated Mindong Hospital, Fujian Medical University, 355000 Fu'an, Fujian, China.
Background: Epilepsy is a common neurological disorder among the elderly, often leading to significant morbidity. Therefore, it is necessary to study the correlation between the frailty index, clinical characteristics of epilepsy, use of anti-epileptic drug, and the prognosis of elderly patients with epilepsy.
Methods: This retrospective study included 106 elderly patients with epilepsy who were treated at the Affiliated Mindong Hospital, Fujian Medical University, China, between January 2018 and December 2022.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!