A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy.
Neurogenetics
; 19(1): 61-65, 2018 01.
Article
em En
| MEDLINE
| ID: mdl-29247375
ABSTRACT
Occipital cortical malformation is a rare neurodevelopmental disorder characterized by pachygyria and polymicrogyria of the occipital lobes as well as global developmental delays and seizures. This condition is due to biallelic, loss-of-function mutations in LAMC3 and has been reported in four unrelated families to date. We report an individual with global delays, seizures, and polymicrogyria that extends beyond the occipital lobes and includes the frontal, parietal, temporal, and occipital lobes. Next-generation sequencing identified a homozygous nonsense mutation in LAMC3 c.3190C>T (p.Gln1064*). This finding extends the cortical phenotype associated with LAMC3 mutations.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Laminina
/
Epilepsia
/
Polimicrogiria
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Female
/
Humans
Idioma:
En
Revista:
Neurogenetics
Assunto da revista:
GENETICA
/
NEUROLOGIA
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Canadá