Takuya Masuda Hitoshi Osaka Naomi Tsuchida Satoko Miyatake Kou Nishimura Toshiki Takenouchi Takao Takahashi Naomichi Matsumoto Takanori Yamagata
10.1016/j.ebr.2022.100547
Epilepsy Behav Rep
2022 Apr 25;19:100547.
2q243 microduplication clb, clobazam cnvs, copy number variations czp, clonazepam copy number variations dee, developmental and epileptic encephalopathy developmental and epileptic encephalopathy eiees, early infantile epileptic encephalopathies pb, phenobarbital pht, phenytoin scn, voltage-gated sodium channels vpa, valproic acid voltage-gated sodium channel wes, whole exome sequencing zns, zonisamide
CC BY
https://pubmed.ncbi.nlm.nih.gov/35733834/
Case Reports
PMC9207545
35733834
Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication
2022