De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders

Tenpei Akita,Kazushi Aoto,Mitsuhiro Kato,Masaaki Shiina,Hiroki Mutoh,Mitsuko Nakashima,Ichiro Kuki,Shin Okazaki,Shinichi Magara,Takashi Shiihara,Kenji Yokochi,Kaori Aiba,Jun Tohyama,Chihiro Ohba,Satoko Miyatake,Noriko Miyake,Kazuhiro Ogata,Atsuo Fukuda,Naomichi Matsumoto,Hirotomo Saitsu

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders

2018

Objective α (CAMK2A) and β (CAMK2B) isoforms of Calcium/calmodulin‐dependent protein kinase II (CaMKII) play a pivotal role in neuronal plasticity and in learning and memory processes in the brain. Here, we explore the possible involvement of α‐ and β‐CaMKII variants in neurodevelopmental disorders.

Keywords:

CAMK2A
Cancer research
Biology
Gene isoform
Cell biology
Protein kinase domain
Exon
Ca2+/calmodulin-dependent protein kinase
kinase activity
Minigene
RNA splicing

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