Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

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 six consanguineous families harboring homozygous inactivating variants in MB...

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Vydáno v:	American journal of human genetics Ročník 99; číslo 4; s. 912
Hlavní autoři:	Johansen, Anide, Rosti, Rasim O, Musaev, Damir, Sticca, Evan, Harripaul, Ricardo, Zaki, Maha, Çağlayan, Ahmet Okay, Azam, Matloob, Sultan, Tipu, Froukh, Tawfiq, Reis, André, Popp, Bernt, Ahmed, Iltaf, John, Peter, Ayub, Muhammad, Ben-Omran, Tawfeg, Vincent, John B, Gleeson, Joseph G, Abou Jamra, Rami
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	United States 06.10.2016
Témata:	Acyltransferases - genetics Acyltransferases - metabolism Arachidonic Acid - metabolism Autistic Disorder - complications Autistic Disorder - enzymology Autistic Disorder - genetics Autistic Disorder - metabolism Child Child, Preschool Consanguinity Epilepsy - complications Epilepsy - enzymology Epilepsy - genetics Epilepsy - metabolism Female Homozygote Humans Infant Intellectual Disability - complications Intellectual Disability - enzymology Intellectual Disability - genetics Intellectual Disability - metabolism Lysophospholipids - metabolism Male Membrane Proteins - genetics Membrane Proteins - metabolism Mutation Pedigree Phosphatidylinositols - metabolism LPIAT1 arachidonic acid epilepsy phosphatidylinositol inflammation MBOAT7 lipid autism intellectual disability
ISSN:	1537-6605, 1537-6605
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