Polymicrogyria in a child with KCNMA1-related channelopathy

Polymicrogyria is a malformation of cortical development with overfolding of the cerebral cortex and abnormal cortical layering. Polymicrogyria constitutes a heterogenous collection of neuroimaging features, neuropathological findings, and clinical associations, and is due to multiple underlying etiologies. In the last few years, some glutamate and sodium channelopathies have been associated with cortical brain malformations such as polymicrogyria. The potassium calcium-activated channel subfamily M alpha 1 (KCNMA1) gene encodes each of the four alpha-subunits that make up the large conductance calcium and voltage-activated potassium channel “Big K+”.

Source: Brain and Development - October 18, 2021 Category: Neurology Authors: Denis Graber, Eri Imagawa, Noriko Miyake, Naomichi Matsumoto, Satoko Miyatake, Marianne Graber, Bertrand Isidor Tags: Case Report Source Type: research