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RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.
Genet Med
December 2024
Genetics Department, Hospices Civils de Lyon, Lyon, France; Neuromyogene Institute, Pathology and Genetics of neuron and muscle, CNRS UMR 5261 INSERM U1315, University of Lyon - Université Claude Bernard Lyon 1, Lyon, France. Electronic address:
Article Synopsis
- RORA is a gene linked to the development and function of the cerebellum, and this study explores the largest group of individuals with RORA-related neurodevelopmental disorders (RORA-NDD).
- The study involved 40 participants with various pathogenic variants of RORA, revealing a range of clinical features including developmental and intellectual disabilities, as well as cerebellar symptoms that can vary in onset and severity.
- Findings indicate that certain missense variants are associated with more severe cerebellar issues, and common elements of RORA-NDD include developmental disabilities, cerebellar symptoms, and different types of myoclonic epilepsy.
Unveiling a de novo variant: Clinical progression and management challenges in a case of developmental and epileptic encephalopathy - A case report.
SAGE Open Med Case Rep
November 2024
Epilepsy Clinic, Hospital "Country 2000" Guadalajara, Jalisco, México.
Article Synopsis
- Developmental and epileptic encephalopathies (DEEs) are serious conditions characterized by developmental delays and seizures that don’t respond to standard medications, often linked to specific genetic changes.
- A case study of a 9-year-old boy reveals challenges in diagnosing and treating his condition, which started with developmental delays and misdiagnosed tics, eventually recognized as epilepsy with eyelid myoclonia.
- This case highlights the importance of identifying genetic variants, suggests considering DEEs for unexplained neurodevelopmental issues, and emphasizes a personalized treatment strategy to improve patients' quality of life.
CHD2-related epilepsy with eyelid myoclonia: Report of three cases.
Epileptic Disord
November 2024
Department of Neurology, Division of Epilepsy, Mayo Clinic, Rochester, Minnesota, USA.
The aim of this study is to report three cases of epilepsy with eyelid myoclonia (EEM) with CHD2 pathogenic variants. A database of 134 patients with EEM evaluated at Mayo Clinic sites was searched to identify patients with CHD2 variants. The medical records of those identified were reviewed to describe their presentation, treatment, and clinical course.
View Article and Find Full Text PDFExploring the Genetic Landscape of Epilepsy With Eyelid Myoclonia: A Comprehensive Review on Clinical Features and Diagnostic Challenges.
Pediatr Neurol
December 2024
Department of Internal Medicine, Seth GS Medical College and KEM Hospital, Mumbai, India. Electronic address:
Jeavons syndrome (JS), also known as epilepsy with eyelid myoclonia (EEM), is an idiopathic epileptic syndrome that primarily affects children. JS constitutes a significant portion of idiopathic generalized epilepsies and overall epileptic conditions and is characterized by frequent eyelid myoclonia. JS is often triggered by factors such as eyelid closure and exposure to light, leading to absence seizures with photoparoxysmal responses.
View Article and Find Full Text PDFGeneralized paroxysmal fast activity in a cohort of patients with epilepsy with eyelid myoclonia.
Clin Neurophysiol
November 2024
Department of Pediatrics, Children's Medical Center, Peking University First Hospital. Electronic address:
Objective: This study aimed to analyze and summarize the characteristics of generalized paroxysmal fast activity (GPFA) via electroencephalography (EEG) in patients with epilepsy with eyelid myoclonia (EEM) and to determine its relationship with clinical outcome.
Methods: Patients with EEM were selected from our EEG database. The collected data included detailed clinical information, factors that triggered GPFA, and the relationship between GPFA and eyelid myoclonia seizures.
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