neurodevelopmental disorder

KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes

Abstract: KCND3 encodes the voltage-gated potassium ion channel subfamily D member 3, a six
trans-membrane protein (Kv4.3), involved in the transient outward K+ current. KCND3 defect
causes both cardiological and neurological syndromes. From a neurological perspective, Kv4.3
defect has been associated to SCA type 19/22, a complex neurological disorder encompassing a
wide spectrum of clinical features beside ataxia. To better define the phenotypic spectrum and
course of KCND3-related neurological disorder, we review the clinical presentation and evolution

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

Aberrant activation or inhibition of potassium (K+) currents across the plasma membrane of cells has been causally linked to altered neurotransmission, cardiac arrhythmias, endocrine dysfunction, and (more rarely) perturbed developmental processes. The K+ channel subfamily K member 4 (KCNK4), also known as TRAAK (TWIK-related arachidonic acid-stimulated K+ channel), belongs to the mechano-gated ion channels of the TRAAK/TREK subfamily of two-pore-domain (K2P) K+ channels.