Biallelic ADGRV1 variants are associated with Rolandic epilepsy
Zhigang Liu, Xingguang Ye, Jieyan Zhang, Ben-Ze Wu, Shi-Wei Dong, Pingming Gao
Topics & Concepts
Missense mutationSanger sequencingExome sequencingGeneticsEpilepsyExomeBiologyEpilepsy syndromesMinor allele frequencyPenetranceMutationAlleleAllele frequencyGenePhenotypeNeuroscienceEpilepsy research and treatmentGenomics and Rare DiseasesGenetic Neurodegenerative Diseases