Article
Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation.
Brain & development - 1 Sept 2014
Magnin Eloi, Blagosklonov Oleg, Sylvestre Geraldine, Minot Delphine, Thevenon Julien, Faivre Laurence, Boulahdour Hatem, Thauvin-Robinet Christel, Rumbach Lucien
Abstract excerpt
BACKGROUND/AIMS: CAMTA1 mutations have recently been reported in families with intellectual disability and/or non-progressive congenital ataxias. The objective of this study was to describe the neuropsychological and neuroimaging phenotype of CAMTA1 mutation. METHODS: We performed neuropsychological examinations, MRI and FDG-PET imaging in three patients with autosomal dominant mild intellectual disabilities and...
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