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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Veröffentlicht in:	American journal of human genetics 2016-10, Vol.99 (4), p.912-916
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Acyltransferases - genetics Acyltransferases - metabolism arachidonic acid Arachidonic Acid - metabolism Autism Autistic Disorder - complications Autistic Disorder - enzymology Autistic Disorder - genetics Autistic Disorder - metabolism Child Child, Preschool Consanguinity Enzymes Epilepsy Epilepsy - complications Epilepsy - enzymology Epilepsy - genetics Epilepsy - metabolism Female Homozygote Humans Infant inflammation Intellectual disabilities intellectual disability Intellectual Disability - complications Intellectual Disability - enzymology Intellectual Disability - genetics Intellectual Disability - metabolism lipid LPIAT1 Lysophospholipids - metabolism Male MBOAT7 Membrane Proteins - genetics Membrane Proteins - metabolism Membranes Mutation Pedigree phosphatidylinositol Phosphatidylinositols - metabolism
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