Novel Compound Heterozygous Mutations in TBC1D24 Cause Familial Malignant Migrating Partial Seizures of Infancy. Issue 6 (12th April 2013)

• Record Type: Journal Article
• Authors: Milh, Mathieu; Falace, Antonio; Villeneuve, Nathalie; Vanni, Nicola; Cacciagli, Pierre; Assereto, Stefania; Nabbout, Rima; Benfenati, Fabio; Zara, Federico; Chabrol, Brigitte; Villard, Laurent; Fassio, Anna
• Is Part Of: Human mutation. Volume 34:Issue 6(2013:Jun.)
• Page Start: 869
• Page End: 872
• Publication Date: 2013-04-12
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22318
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22318-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We identified novel inherited mutations in <italic>TBC1D24</italic> in two siblings affected by Malignant Migrating Partial Seizures of Infancy (MMPSI), a rare devastating early onset epileptic encephalopaties of heterogeneous genetic origin. <italic>TBC1D24</italic> is a novel epilepsy gene encoding a neuronal protein known to interact with ARF6 and to regulate neurite development. The pathogenic <italic>TBC1D24</italic> variants are located in the ARF6 binding domain and severely impaired <italic>TBC1D24</italic> expression and function. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg20pg58pt" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>