A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsy.
Am J Med Genet A
; 182(11): 2761-2764, 2020 11.
Article
in En
| MEDLINE
| ID: mdl-32902107
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.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
Phenotype
/
Seizures
/
RNA Splicing
/
Laminin
/
Epilepsy
/
Polymicrogyria
/
Occipital Lobe
Type of study:
Prognostic_studies
/
Risk_factors_studies
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
En
Year:
2020
Type:
Article