PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy.
Shiraku H, Nakashima M, Takeshita S, Khoo CS, Haniffa M, Ch'ng GS, Takada K, Nakajima K, Ohta M, Okanishi T, Kanai S, Fujimoto A, Saitsu H, Matsumoto N, Kato M.
Shiraku H, et al. Among authors: khoo cs.
Epilepsia Open. 2018 Nov 1;3(4):495-502. doi: 10.1002/epi4.12272. eCollection 2018 Dec.
Epilepsia Open. 2018.
PMID: 30525118
Free PMC article.