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    • Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy 

      McGaughran, Julie; Shen, Joseph; Cleary, John G.; Grimmond, Sean M.; King, Glenn F.; Yuksel, Adnan; Guler, Serhat; Yesil, Gozde; Taft, Ryan J.; Gabbett, Michael T.; Simons, Cas; Rash, Lachlan D.; Crawford, Joanna; Ma, Linlin; Cristofori-Armstrong, Ben; Miller, David; Ru, Kelin; Baillie, Gregory J.; Alanay, Yasemin; Jacquinet, Adeline; Debray, Francois-Guillaume; Verloes, Alain (2015-01-01)
      Temple-Baraitser syndrome (TBS) is a multisystem developmental disorder characterized by intellectual disability, epilepsy, and hypoplasia or aplasia of the nails of the thumb and great toe(1,2). Here we report damaging ...