Article
Epilepsy-associated digenic variants affecting an actin/mitochondria/glutamate pathway promote seizure susceptibility.
The Journal of clinical investigation - 1 Sept 2026
Lu Shenzhao, Ma Mengqi, Hannan Shabab B, Deng Mingxi, Chen Hu, Yu Zhijian, Goodman Lindsey D, Kim Haein, Zhao Yun, Dubey Sandeep Kumar, Lin Wen-Wen, Pan Xueyang, Dutta Debdeep, Cuddapah Vishnu Anand, Rosenfeld Jill A, Luo Xi, Liu Zhandong, Shulman Joshua M, Bellen Hugo J
Abstract excerpt
Epilepsy affects approximately 50 million people worldwide, yet more than half of individuals with a presumed genetic cause still lack a molecular diagnosis despite the identification of over 1,000 monogenic epilepsy genes. This diagnostic gap is unlikely to be resolved by improved variant detection alone, suggesting that variants affecting the same biological pathway may combine to cause disease. By studying...
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- Animals
- Humans
- Actins
- Glutamic Acid
- Seizures