Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.
Melodie R WinawerNicole G GriffinJorge SamanamudEvan H BaughDinesh RathakrishnanSenthilmurugan RamalingamDavid ZagzagCatherine A SchevonPatricia DuganManu HegdeSameer A ShethGuy M McKhannWerner K DoyleGerald A GrantBrenda E PorterMohamad A MikatiCarrie R MuhColin D MaloneAnn Marie R BerginJurriaan M PetersDanielle K McBrianAlison M PackCigdem I AkmanChristopher M LaCoursiereKatherine M KeeverJoseph R MadsenEdward YangHart G W LidovCatherine ShainAndrew S AllenPeter D CanollPeter B CrinoAnnapurna H PoduriErin L HeinzenPublished in: Annals of neurology (2018)
We report somatic variants in SLC35A2 as an explanation for a substantial fraction of NLFE, a largely unexplained condition, as well as focal MCD, previously shown to result from somatic mutation but until now only in PI3K-AKT-mTOR pathway genes. Collectively, our findings suggest a larger role than previously recognized for glycosylation defects in the intractable epilepsies. Ann Neurol 2018.