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Background and purpose
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).
Methods
Five families diagnosed with FCMTE were included in the current genetic analysis. Whole‐exome sequencing was performed in selected patients of each family...
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