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Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features
Johansen, Anide; Rosti, Rasim O.; Musaev, Damir; Sticca, Evan; Harripaul, Ricardo; Zaki, Maha; Abou Jamra, Rami (CELL PRESS, 2016)The risk of epilepsy among individuals with intellectual disability (ID) is approximately ten times that of the general population. From a cohort of >5,000 families affected by neurodevelopmental disorders, we identified ...