Associated Papers
Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes.
Khan S et al.
The Journal of Gene Medicine, 2023
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK et al.
Jama Neurology, 2023
37486637 (PubMed )
Supplement: jamaneurol-e232363-s002.xlsx › All_-_AlphaGene
Two Novel Compound Heterozygous ADGRG1/GPR56 Mutations Associated with Diffuse Cerebral Polymicrogyria.
Jha R et al.
Journal of Pediatric Genetics, 2022
Novel compound heterozygous GPR56 gene mutation in a twin with lissencephaly: A case report.
Lin WX et al.
World Journal of Clinical Cases, 2022
GPR56: An adhesion GPCR involved in brain development, neurological disorders and cancer.
Ganesh RA et al.
Brain Research, 2020
GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria.
Öncü-Öner T et al.
The Turkish Journal of Pediatrics, 2018
Genetics of reflex seizures and epilepsies in humans and animals.
Italiano D et al.
Epilepsy Research, 2016
Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.
Santos-Silva R et al.
Neuropediatrics, 2015
The Genetic Landscape of Polymicrogyria.
James J et al.
Annals of Indian Academy of Neurology, 0
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