Channelopathies

Definition

Channelopathies are a group of disorders that are caused by dysfunction of ion channels. Channelopathies can disrupt neuronal or muscle function, including heart function, and can affect the brain, resulting in seizures. Channelopathies can result from a mutation or autoimmune attack on an ion channel.

Latest Research and Reviews

  • Reviews |

    Soon after their discovery in 2010, Piezo channels became a paradigm for studying mechanosensitive ion channels. These channels respond to physiologically relevant forces in diverse cellular contexts, and their dysfunction has been linked to various diseases. We are now starting to understand gating mechanisms of Piezo channels and their key roles in physiology.

    • Swetha E. Murthy
    • , Adrienne E. Dubin
    •  & Ardem Patapoutian
  • Reviews |

    Rare neurological diseases require widely distributed networks of centres, investigators and patients to foster multidisciplinary investigations and recruit sufficient numbers of patients for research studies and clinical trials. In this article, Jen and colleagues highlight the role of two networks, the Consortium for Clinical Investigations of Neurological Channelopathies (CINCH) and the Clinical Research Consortium for Studies of Cerebellar Ataxias (CRC-SCA), in bringing together the various stakeholders in patient-oriented research into rare neurological channelopathies.

    • Joanna C. Jen
    • , Tetsuo Ashizawa
    • , Robert C. Griggs
    •  & Michael F. Waters
  • Research | | open

    Episodic ataxia type 1 is caused by mutations in the potassium channel Kv1.1, which is found in cerebellar basket cells. Here, the authors use electrophysiology techniques to characterize these mutant channels, and observe that the changes result in decreased spontaneous Purkinje cell firing with no evidence for developmental compensation.

    • Rahima Begum
    • , Yamina Bakiri
    • , Kirill E. Volynski
    •  & Dimitri M. Kullmann
  • Reviews |

    Emerging evidence suggests a role for the voltage-gated sodium channel NaV1.9 in pain. In this Progress article, Dib-Hajj, Black and Waxman analyse the findings from three studies that report mutations in the gene encoding NaV1.9 in pain disorders, and suggest that NaV1.9 may be a potential therapeutic target for pain.

    • Sulayman D. Dib-Hajj
    • , Joel A. Black
    •  & Stephen G. Waxman

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