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Genetic mosaicism, intrafamilial phenotypic heterogeneity, and molecular defects of a novel missense SLC6A1 mutation associated with epilepsy and ADHD

Sarah Poliquin, Inna Hughes, Wangzhen Shen, Felicia Mermer, Juexin Wang, Taralynn Mack, Dong Xu, Jing‐Qiong Kang

2021Experimental Neurology29 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationGeneticsPhenotypeMutationGenetic heterogeneityEpilepsyBiologyGeneNeuroscienceNeuroscience and Neuropharmacology ResearchAmino Acid Enzymes and MetabolismGABA and Rice Research
Genetic mosaicism, intrafamilial phenotypic heterogeneity, and molecular defects of a novel missense SLC6A1 mutation associated with epilepsy and ADHD | Litcius