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 SasakiPublished in: Brain & development (2023)
Early-onset scoliosis, arthrogryposis multiplex congenita, and opisthotonus may be related to KCNQ2 encephalopathy.