Methods for treating epilepsy

Abstract

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.