Management

Management of KCNMA1-linked channelopathies is based on the standard of care for individual phenotypes and diagnoses. Since the disorder definition is a work in progress that requires increased patient cohorts and longitudinal data collection, no variant-specific treatment options are approved, although the treatment of PNKD3 in the setting of a Gain-Of-Function KCNMA1 variant has been documented (see below). For most patients, the treatment involves a multidisciplinary team of specialists and occupational therapists with consistent longitudinal follow up. Coordination of care across systems is indicated in all cases. Miller et al., Bailey et al., and Keros et al. documented patient care regimens including standard anti-seizure, standard movement disorder therapeutics and standard individual development plans.

In patients diagnosed with PNKD3 that carry an N999S variant (rs886039469), success with stimulant therapy was reported specifically by Keros et al. (2021). The retrospective case series described lisdexamfetamine (15-40mg/day) treatment data from six participants aged three to nine years old. Results from this data set indicated a decreased number of parentally-observed PKND episodes.

Parents have also reported management of seizures/epilepsy episodes and PNKD3 episodes with protective gear including helmets, walkers, braces and wheelchairs.