Compositions and methods for diagnosis and treatment of epilepsy
Compositions and methods for diagnosis or treatment of epilepsy disease with EFHC1, EFHC1 agonists, or EFHC1 analogs are provided. Compositions and methods for diagnosis or treatment of epilepsy disease with EFHC1a, EFHC1a agonists, or EFHC1a analogs are provided.
1. A nucleic acid probe comprising between 25 to 100 contiguous nucleotides of SEQ ID NO: 3 or the complement thereof, wherein the nucleic acid probe comprises a T at position 858 of SEQ ID NO: 3 or a complement thereof, and wherein the nucleic acid probe is detectably labeled with a radioisotope or a fluorescent reporter.
2. The nucleic acid probe of claim 1 , wherein the nucleic acid probe specifically binds under high stringency conditions to a portion of the EFHC1 sequence comprising a mutation 858G>T of SEQ ID NO: 3.
3. The nucleic acid probe of claim 1 , wherein the mutation corresponds to a missense mutation at amino acid position 253 of SEQ ID NO: 4.
4. The nucleic acid probe of claim 1 , wherein the probe is between 25 to 50 nucleotides long.
5. The nucleic acid probe of claim 1 , wherein the probe is 25 to 40 nucleotides long.
6. The nucleic acid probe of claim 1 , wherein the probe is 50 to 100 nucleotides long.
7. A kit for detecting a mutation in EFHC1 gene, comprising the nucleic acid probe of claim 1 .
8. An array for detecting a mutation in EFHC1 gene, comprising the nucleic acid probe of claim 1 .