Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.
Experimental & Molecular Medicine
Lee, Sang-Yeon SY; Choi, Hyun Been HB; Park, Mina M; Choi, Il Soon IS; An, Jieun J; Kim, Ami A; Kim, Eunku E; Kim, Nahyun N; Han, Jin Hee JH; Kim, Min Young MY; Lee, Seung Min SM; Oh, Doo-Yi DY; Kim, Bong Jik BJ; Yi, Nayoung N; Kim, Nayoung K D NKD; Lee, Chung C; Park, Woong-Yang WY; Koh, Young Ik YI; Gee, Heon Yung HY; Cho, Hyun Sung HS; Kang, Tong Mook TM; Choi, Byung Yoon BY
Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate.
Scientific Reports
Soldovieri, Maria Virginia MV; Ambrosino, Paolo P; Mosca, Ilaria I; De Maria, Michela M; Moretto, Edoardo E; Miceli, Francesco F; Alaimo, Alessandro A; Iraci, Nunzio N; Manocchio, Laura L; Medoro, Alessandro A; Passafaro, Maria M; Taglialatela, Maurizio M