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TTTCA repeat expansion causes familial cortical myoclonic tremor with epilepsy

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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… Click to show full 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).

Keywords: myoclonic tremor; familial cortical; cortical myoclonic; tremor epilepsy; tttca repeat

Journal Title: European Journal of Neurology
Year Published: 2019

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