1Naval C, Dalle C, Rastetter A, et al. De novo mutations in HCN1 cause early infantile epileptic encephalopathy [ J 1. Nat Genet, 2014,46(6) :640-645.
2Dedek K, Fusco L, Teloy N, et al. Neonatal convulsions audepileptic encephalopathy in an Italian family with a missense mutation the fifth transmembrane region of KCNQ2 [ J ]. Epilepsy Res,2003,54( 1 ) :21-27.
3Samanta D, Ramakrishnaiah R, Willis E, et al. Myoclonic epilepsy evolved into West syndrome: a patient with a novel de novo KCNQ2 mutation [ J/OL ]. Acta Neurol Belg, 2014, 8 [2015-05-01 ]. http://link, springer, com/article/10. 1007% 2Fs13760-014-0344-5. [ published online ahead of print August 5, 2014].
4Milh M, Lacoste C, Cacciagli P, et al. Variable Clinical Expression in Patients With Mosaicism for KCNQ2 Mutations [ J/ OL]. Am J Med Genet, 2015, Part A 9999A:1-5. [2015-05- 01 1. http://onlinelibrary, wiley, com/doi/10. 1002/ajmg. a. 37152/fu11.
