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Epilepsy in LAMA2 ‐related muscular dystrophy: An electro‐clinico‐radiological characterization
Author(s) -
Naterade Benito Daniel,
Muchart Jordi,
Itzep Debora,
Ortez Carlos,
GonzálezQuereda Lidia,
Gallano Pía,
Ramirez Alia,
Aparicio Javier,
DomínguezCarral Jana,
CarreraGarcía Laura,
ExpósitoEscudero Jessica,
Pardo Cardozo Nathalia,
Cuadras Daniel,
Codina Anna,
Jou Cristina,
JimenezMallebrera Cecilia,
Palau Francesc,
Colomer Jaume,
Arzimanoglou Alexis,
Nascimento Andrés,
San AntonioArce Victoria
Publication year - 2020
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/epi.16493
Subject(s) - epilepsy , medicine , congenital muscular dystrophy , polymicrogyria , muscular dystrophy , electroencephalography , white matter , pathology , psychology , magnetic resonance imaging , radiology , psychiatry
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.