Table 1.

Molecular Genetic Testing Used in Progressive Myoclonic Epilepsy Type 1

Gene 1Method 2, 3Proportion of Probands with a Pathogenic Variant Detectable by Method
CSTB Targeted analysis for the dodecamer expansion~90% 4, 5
Sequence analysis 6~10% 4
1.

See Table A. Genes and Databases for chromosome locus and protein.

2.

See Table 7 for specific methods to characterize the number of dodecamer (CCC-CGC-CCC-GCG) repeats in CSTB.

3.

Sequence-based multigene panels, exome sequencing, and genome sequencing cannot detect pathogenic repeat expansions in this gene.

4.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

5.
6.

~99% in Finnish individuals [Joensuu et al 2008]

From: Progressive Myoclonic Epilepsy Type 1

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