Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality.

Osamu KawanoTakashi SaitoNoriko SumitomoEri TakeshitaYuko Shimizu-MotohashiEiji NakagawaKanako MizumaSachiko TanifujiToshiyuki ItaiSatoko MiyatakeNaomichi MatsumotoYuji TakahashiHidehiro MizusawaMasayuki Sasaki

Published in: Brain & development (2023)

Early-onset scoliosis, arthrogryposis multiplex congenita, and opisthotonus may be related to KCNQ2 encephalopathy.

Keyphrases

early onset
late onset
high throughput
real time pcr