Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization
| العنوان: | Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization |
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| المؤلفون: | Francesc Palau, Daniel Natera-de Benito, Alexis Arzimanoglou, Javier Aparicio, Lidia Gonzalez-Quereda, J. Domínguez-Carral, Cecilia Jimenez-Mallebrera, Cristina Jou, Pia Gallano, Jaume Colomer, A. Codina, Nathalia Pardo Cardozo, Andrés Nascimento, Carlos Ortez, D. Itzep, Jessica Expósito-Escudero, Daniel Cuadras, Victoria San Antonio-Arce, Jordi Muchart, Laura Carrera-García, Alia Ramirez |
| المصدر: | Epilepsia r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu instname r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu Fundació Sant Joan de Déu EPILEPSIA r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau |
| بيانات النشر: | WILEY-BLACKWELL, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Male, 0301 basic medicine, Pathology, MDC1A, Electroencephalography, Muscular Dystrophies, Epilepsy, 0302 clinical medicine, Polymicrogyria, merosin, EEG, Age of Onset, Muscular dystrophy, Child, seizures, medicine.diagnostic_test, Brain, LAMA2, epilepsy, Magnetic Resonance Imaging, Phenotype, Neurology, Child, Preschool, Vomiting, Anticonvulsants, Female, medicine.symptom, medicine.medical_specialty, Adolescent, Neuroimaging, Young Adult, 03 medical and health sciences, medicine, Humans, Muscle biopsy, Electromyography, business.industry, Infant, medicine.disease, 030104 developmental biology, Neurology (clinical), business, 030217 neurology & neurosurgery |
| الوصف: | Objective To delineate the epileptic phenotype of LAMA2-related muscular dystrophy (MD) and correlate it with the neuroradiological and muscle biopsy findings, as well as the functional motor phenotype. Methods Clinical, electrophysiological, neuroradiological, and histopathological data of 25 patients with diagnosis of LAMA2-related MD were analyzed. Results Epilepsy occurred in 36% of patients with LAMA2-related MD. Mean age at first seizure was 8 years. The most common presenting seizure type was focal-onset seizures with or without impaired awareness. Visual aura and autonomic signs, including vomiting, were frequently reported. Despite a certain degree of variability, bilateral occipital or temporo-occipital epileptiform abnormalities were by far the most commonly observed. Refractory epilepsy was found in 75% of these patients. Epilepsy in LAMA2-related MD was significantly more prevalent in those patients in whom the cortical malformations were more extensive. In contrast, the occurrence of epilepsy was not found to be associated with the patients' motor ability, the size of their white matter abnormalities, or the amount of residual merosin expressed on muscle. Significance The epileptic phenotype of LAMA2-related MD is characterized by focal seizures with prominent visual and autonomic features associated with EEG abnormalities that predominate in the posterior quadrants. A consistent correlation between epileptic phenotype and neuroimaging was identified, suggesting that the extension of the polymicrogyria may serve as a predictor of epilepsy occurrence. |
| تدمد: | 0013-9580 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0c1ebcf6342c2db7adcde2efd670043Test http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17575Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....d0c1ebcf6342c2db7adcde2efd670043 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00139580 |
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