METHODS FOR TREATING EPILEPSY
Provided herein are methods of treating, preventing, ameliorating or managing a nonsense mutation mediated epileptic disease, comprising administering a 1,2,4-oxadiazole benzoic acid to a patient having a nonsense mutation mediated epileptic disease. In particular, provided herein are methods of treating, preventing, ameliorating or managing a CDKL5 and/or SCN1A (Dravet syndrome) nonsense mutation mediated epileptic disease.
1 . A method for treating, ameliorating or managing a nonsense mutation mediated epileptic disease associated with a nonsense mutation, comprising administering an effective amount of 3-[5-(2-fluoro-phenyl)-[1,2,4]oxadiazol-3-yl]benzoic acid or a pharmaceutically acceptable salt thereof to a patient having the nonsense mutation mediated epileptic disease.
2 . A method for treating, ameliorating or managing a nonsense mutation mediated epileptic disease associated with a nonsense mutation, comprising administering an effective amount of 3-[5-(2-fluoro-phenyl)-[1,2,4]oxadiazol-3-yl]benzoic acid or a pharmaceutically acceptable salt thereof to a patient having the nonsense mutation mediated epileptic disease, wherein the nonsense mutation mediated epileptic disease is associated with a CDKL5 nonsense mutation.
3 . The method of claim 1 , wherein the salt is selected from the group consisting of a magnesium salt, a potassium salt, a sodium salt, a tromethamine salt, an L-lysine salt, an L-arginine salt, an N-methyl glucamine salt and an L-histidine salt.
4 . The method of claim 2 , wherein the epileptic disease is associated with a CDKL5 nonsense mutation selected from the group consisting of R59X, R550X, Q834X, R79X, Q118X, R134X, L142X, Q347X, R559X and R970X.
5 . The method of claim 1 , wherein the epileptic disease is associated with an SCN2A nonsense mutation.
6 . The use of claim 5 , wherein the epileptic disease is associated with an SCN2A nonsense mutation that is R102X.
7 . The method of claim 1 , wherein the epileptic disease is associated with a GABRG2 nonsense mutation.
8 . The method of claim 7 , wherein the epileptic disease is associated with a GABRG2 nonsense mutation selected from the group consisting of R136X, W429X, Q40X, Q390X, Q1X, Q351X, W390X and Y444Mfs51X.
9 . The use of claim 1 , wherein the epileptic disease is associated with a DEPDC5 nonsense mutation.
10 . The use of claim 9 , wherein the epileptic disease is associated with a DEPDC5 nonsense mutation selected from the group consisting of R555X and Y306X.
11 . The use of claim 1 , wherein the epileptic disease is associated with a NAPB nonsense mutation.
12 . The use of claim 11 , wherein the epileptic disease is associated with a NAPB nonsense mutation that is S160X.
13 . The use of claim 1 , wherein the epileptic disease is drug-resistant epilepsy.
14 . The use of claim 1 , wherein the patient is human.
15 . The use of claim 3 , wherein the patient is human.
16 . A method for treating, ameliorating or managing a nonsense mutation mediated epileptic disease associated with a SCN1A nonsense mutation, comprising administering an effective amount of 3-[5-(2-fluoro-phenyl)-[1,2,4]oxadiazol-3-yl]benzoic acid or a pharmaceutically acceptable salt thereof to a human patient having the nonsense mutation mediated epileptic disease.