Epilepsy Secondary to Occipital Cobblestone Malformation in an Adult Patient with Merosin-Deficient Congenital Muscular Dystrophy Type 1A

Miguel Schön; Carla Bentes; Carlos Morgado; Miguel Oliveira Santos

doi:10.20344/amp.21928

Epilepsy Secondary to Occipital Cobblestone Malformation in an Adult Patient with Merosin-Deficient Congenital Muscular Dystrophy Type 1A

Authors

Miguel Schön Department of Neurosciences and Mental Health (Neurology). Unidade Local de Saúde de Santa Maria. Lisbon.
Carla Bentes Department of Neurosciences and Mental Health (Neurology). Unidade Local de Saúde de Santa Maria. Lisbon; EEG/Sleep Laboratory/Stroke Unit Department of Neurosciences and Mental Health. Unidade Local de Saúde de Santa Maria. Lisbon; Centro de Estudos Egas Moniz. Faculty of Medicine. Universidade de Lisboa. Lisbon.
Carlos Morgado Department of Neuroradiology. Unidade Local de Saúde de Santa Maria. Lisbon; Faculty of Medicine. Universidade de Lisboa. Lisbon.
Miguel Oliveira Santos Department of Neurosciences and Mental Health (Neurology). Unidade Local de Saúde de Santa Maria. Lisbon; Centro de Estudos Egas Moniz. Faculty of Medicine. Universidade de Lisboa. Lisbon.

DOI:

https://doi.org/10.20344/amp.21928

Keywords:

Epilepsy/etiology, Laminin/genetics, Muscular Dystrophies/congenital, Nervous System Malformations/genetics

Abstract

N/a.

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References

Natera-de Benito D, Muchart J, Itzep D, Ortez C, González-Quereda L, Gallano P, et al. Epilepsy in LAMA2-related muscular dystrophy: an electro-clinicoradiological characterization. Epilepsia. 2020;61:971-83. DOI: https://doi.org/10.1111/epi.16493

Jayakody H, Zarei S, Nguyen H, Dalton J, Chen K, Hudgins L, et al. Cobblestone malformation in LAMA2 congenital muscular dystrophy (MDC1A). J Neuropathol Exp Neurol. 2020;79:998-1010. DOI: https://doi.org/10.1093/jnen/nlaa062

Salvati A, Bonaventura E, Sesso G, Pasquariello R, Sicca F. Epilepsy in LAMA2-related muscular dystrophy: a systematic review of the literature. Seizure, 2021;91:425-36. DOI: https://doi.org/10.1016/j.seizure.2021.07.020

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Published

2024-10-04

How to Cite

Schön M, Bentes C, Morgado C, Oliveira Santos M. Epilepsy Secondary to Occipital Cobblestone Malformation in an Adult Patient with Merosin-Deficient Congenital Muscular Dystrophy Type 1A. Acta Med Port [Internet]. 2024 Oct. 4 [cited 2024 Nov. 21];37(11):813-4. Available from: https://actamedicaportuguesa.com/revista/index.php/amp/article/view/21928

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Issue

Vol. 37 No. 11 (2024): November

Section

Letters to the Editor

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