نتایج جستجو برای: cdkl5

تعداد نتایج: 205  

Journal: :Epilepsy research 2006
Mitsuhiro Kato

Symptomatic West syndrome has heterogeneous backgrounds. Recently, two novel genes, ARX and CDKL5, have been found to be responsible for cryptogenic West syndrome or infantile spasms. Both are located in the human chromosome Xp22 region and are mainly expressed and play roles in fetal brain. Moreover, several genes responsible for brain malformations including lissencephaly, which is frequently...

Journal: :Cumhuriyet medical journal 2022

Cyclin-dependent kinase-like 5 (CDKL5, OMIM 300203), also known as STK9 (serine/threonine kinase 9), is a gene that thought to play role in the production of proteins involved normal development brain, although its function not exactly. It located p22.13 region X chromosome. Some mutations reported this have been found be associated with epilepsy characterized progressive seizures, non-epilepti...

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