Large-conductance calcium-activated potassium channel haploinsufficiency leads to sensory deficits in the visual system: a case report.

ABSTRACT:

Background

Mutations in the genes encoding the large-conductance calcium-activated potassium channel, especially KCNMA1 encoding its α-subunit, have been linked to several neurological features, including intellectual disability or autism. Associated with neurodevelopmental phenotypes, sensory function disturbances are considered to be important clinical features contributing to a variety of behavioral impairments. Large-conductance calcium-activated potassium channels are important in regulating neurotransmission in sensory circuits, including visual pathways. Deficits in visual function can contribute substantially to poor quality of life, while therapeutic approaches aimed at addressing such visual deficits represent opportunities to improve neurocognitive and neurobehavioral ou

SUBMITTER: Perche O 

PROVIDER: S-EPMC9069818 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature