| 1 | KCNQ5, MRD46 |
| Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. | |
| Lehman A, Thouta S, Mancini GMS, Naidu S, van Slegtenhorst M, McWalter K, Person R, Mwenifumbo J, Salvarinova R; CAUSES Study; EPGEN Study, Guella I, McKenzie MB, Datta A, Connolly MB, Kalkhoran SM, Poburko D, Friedman JM, Farrer MJ, Demos M, Desai S, Claydon T. | |
| Am J Hum Genet 101(1):65-74. doi: 10.1016/j.ajhg.2017.05.016. Epub 2017 Jun 29. 2017 | |