TTTCA repeat expansion causes familial cortical myoclonic tremor with epilepsy
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Neurology"
DOI: 10.1111/ene.13848
Abstract: The aim was to investigate whether abnormal TTTTA and TTTCA repeat expansions in introns of SAMD12, TNRC6A and RAPGEF2 are involved in the pathogenesis of familial cortical myoclonic tremor with epilepsy (FCMTE). read more here.
Keywords: myoclonic tremor; familial cortical; cortical myoclonic; tremor epilepsy ... See more keywords
White matter alterations in familial cortical myoclonic tremor with epilepsy type 1
Sign Up to like & getrecommendations! Published in 2022 at "Epilepsia"
DOI: 10.1111/epi.17213
Abstract: Although previous imaging studies have reported cerebellar gray matter loss in patients with familial cortical myoclonic tremor with epilepsy (FCMTE), the corresponding white matter alterations remain unknown. We investigated white matter structural changes in FCMTE1… read more here.
Keywords: matter; white matter; familial cortical; cortical myoclonic ... See more keywords
δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy
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DOI: 10.1212/wnl.0000000000004709
Abstract: Objective: To identify the causative gene in a large Dutch family with familial cortical myoclonic tremor and epilepsy (FCMTE). Methods: We performed exome sequencing for 3 patients of our FCMTE family. Next, we performed knock-down… read more here.
Keywords: ctnnd2; myoclonic tremor; familial cortical; cortical myoclonic ... See more keywords