Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue.
Katherine E MillerDaniel C KoboldtKathleen M SchiefferTracy A BedrosianErin CristAdrienne ShelineKristen LeraasVincent MagriniHuachun ZhongPatrick BrennanJocelyn BushJames FitchNatalie BirAnthony R MillerCatherine E CottrellJeffrey LeonardJonathan A PindrikJerome A RusinSummit H ShahPeter WhiteRichard K WilsonElaine R MardisChristopher R PiersonAdam P OstendorfPublished in: Neurology. Genetics (2020)
Our findings support the importance of tissue-based sequencing and highlight a correlation in our patient between SLC35A2 variant allele fractions and the severity of epileptogenic phenotypes in different brain tissues obtained from a grid-based resection of clinically defined epileptogenic regions.