Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2.
Akamine S, Sagata N, Sakai Y, Kato TA, Nakahara T, Matsushita Y, Togao O, Hiwatashi A, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T, Sawa A, Kano S, Furue M, Kanba S, Shaw CA, Ohga S.
Akamine S, et al. Among authors: hiwatashi a.
Epilepsia Open. 2017 Nov 23;3(1):81-85. doi: 10.1002/epi4.12085. eCollection 2018 Mar.
Epilepsia Open. 2017.
PMID: 29588991
Free PMC article.