A novel splice variant expands the LAMC3 ‐associated cortical phenotype to frontal only polymicrogyria and adult‐onset epilepsy
| Autor: | Christian Thiel, Cornelia Kraus, Julie Rösch, Christiane Zweier, Burkhard S. Kasper, Michael Schwarz, André Reis |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Psychomotor learning business.industry Alternative splicing 030105 genetics & heredity medicine.disease Phenotype 03 medical and health sciences Epilepsy 030104 developmental biology Genetics Polymicrogyria Medicine Ictal Asystole business Cognitive impairment Neuroscience Genetics (clinical) |
| Zdroj: | American Journal of Medical Genetics Part A. 182:2761-2764 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.61846 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text