Method and kit for determining hyperexcitability in subject
A method for determining a hyperexcitability in a subject comprising detecting a repeat expansion of TTTCA, TTTTA, or a complementary sequence thereof in a nucleic acid sample from the subject.
1. A method for detecting a repeat expansion of nucleic acid, comprising:
providing a nucleic acid sample comprising an intron of a SAMD12 gene from a human subject; and
detecting at least one repeat expansion in the intron of the SAMD12 gene, wherein the repeat expansion comprises:
greater than 2.2 kb of TTTCA repeats or TGAAA repeats;
greater than 2.2 kb of TTTTA repeats or TAAAA repeats; or
greater than 2.2 kb of TTTCA repeats or TGAAA repeats and TTTTA repeats or TAAAA repeats.
2. The method of claim 1 , wherein the repeat expansion comprises TTTCA repeats with flanking TTTTA repeats, or TGAAA repeats with flanking TAAAA repeats.
3. The method of claim 1 , wherein the intron comprises intron 4 of the SAMD12 gene.
4. The method of claim 2 , wherein the intron comprises intron 4 of the SAMD12 gene.
5. The method of claim 1 , wherein the repeat expansion comprises less than 18.4 kb of TTTCA repeats or TGAAA repeats.
6. The method of claim 1 , wherein the repeat expansion comprises less than 18.4 kb of TTTTA repeats or TAAAA repeats.