Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization.
LAMA2
EEG
MDC1A
epilepsy
merosin
seizures
Journal
Epilepsia
ISSN: 1528-1167
Titre abrégé: Epilepsia
Pays: United States
ID NLM: 2983306R
Informations de publication
Date de publication:
05 2020
05 2020
Historique:
received:
14
11
2019
revised:
02
03
2020
accepted:
09
03
2020
pubmed:
9
4
2020
medline:
1
12
2020
entrez:
9
4
2020
Statut:
ppublish
Résumé
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. Clinical, electrophysiological, neuroradiological, and histopathological data of 25 patients with diagnosis of LAMA2-related MD were analyzed. 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. 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.
Substances chimiques
Anticonvulsants
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
971-983Subventions
Organisme : Instituto de Salud Carlos III, Río Hortega
ID : CM17/00054
Pays : International
Organisme : Instituto de Salud Carlos III, Río Hortega
ID : PI15/01898
Pays : International
Organisme : Fundación Mutua Madrileña
Pays : International
Organisme : European Regional Development Fund (FEDER a way to achieve Europe)
Pays : International
Informations de copyright
© 2020 International League Against Epilepsy.
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