#kcnq2

[joeyjao]

When Jaz was pregnant with Justine I wanted to have a song to sing to her every night. When she was in the NICU for the first month and half of her life I sang Rainbow Connection to her every single day. I wanted her to remember my voice. I wanted her to know music. To this day I still try and sing it to her everyday. And every time I start singing it to her..she smiles and it brightens up my day. #blessed #kcnq2

[joeyjao]

#internationalepilepsyday #kcnq2

[joeyjao]

Don't worry everyone..she's in good spirits...for now. #kcnq2 #specialneeds #epilepsyawareness #eeg #littlestinker (at Ann & Robert H. Lurie Children's Hospital of Chicago)

[joeyjao]

A game I play every night with Justine #kcnq2

[mdsts]

リチウムはまた、細胞内のグリコーゲン合成酵素キナーゼ3β（GSK3β）を直接的に強力に阻害する。GSK3βは多くの機能を有しているが、その1つとして電位依存性カリウムチャネルのKCNQ2をリン酸化する作用がある。このKCNQ2のリン酸化はKCNQ2チャネルの活性を低下させ、その結果、M-チャネル電流が減少することが示された。この所見からは、リチウムの治療効果は、KCNQ2のリン酸化に由来すると推測することができる。

治療の標的としてのイオンチャネル

ION CHANNELS AS THERAPEUTIC TARGETS

http://blog.livedoor.jp/beziehungswahn/archives/36648091.html

[joeyjao]

This week is #KCNQ2 awareness week. Justine has this gene mutation that led to seizures early in her life. It continues to effect her with developmental delays. She is one of only 120 cases in the world. And with her additional #KCNQ3 mutation, is the only known case in the world with this diagnosis.