A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsy

Kasper B, Kraus C, Schwarz M, Rösch J, Thiel C, Reis A, Zweier C (2020)

Publication Type: Journal article

Publication year: 2020

Journal

DOI: 10.1002/ajmg.a.61846

Abstract

Bi-allelic loss-of-function variants in LAMC3, encoding extracellular matrix protein laminin gamma 3, represent a rare cause of occipital polymicrogyria with epilepsy, developmental delay and cognitive impairment. So far, only five families have been reported. We now identified a novel, homozygous splice variant in LAMC3 in an individual with an unusual manifestation of cortical malformation. She presented with polymicrogyria in the frontal but not the occipital lobes, with adult-onset seizures and normal psychomotor development and cognition. Additionally, ictal asystole, requiring implantation of a pacemaker, and nonepileptic seizures occurred. This case expands the spectrum of LAMC3-associated cortical malformation phenotypes to frontal only polymicrogyria and adult-onset of epilepsy.

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How to cite

APA:

Kasper, B., Kraus, C., Schwarz, M., Rösch, J., Thiel, C., Reis, A., & Zweier, C. (2020). A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsy. American Journal of Medical Genetics Part A. https://doi.org/10.1002/ajmg.a.61846

MLA:

Kasper, Burkhard, et al. "A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsy." American Journal of Medical Genetics Part A (2020).

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