Table 2.

Number of patients with core KCNMA1-linked channelopathy symptoms by mutation type

Symptom	GOF	LOF	VUS/No effect
Epilepsy	13/27	9/17	13/21
Absence Only	5/27	2/17	1/21
Other or Multiple Seizure Types	8/27	7/17	12/21
Movement Disorder	24/27	13/17	17/19
PNKD	23/27	5/17	1/19
Other Movement Disorder	1/27	8/17	16/19
Neurodevelopmental	17/30	16/17	13/18
Structural	3/27	8/17	6/17

Genetic and phenotypic data was derived from Table 1. Each patient was categorized as GOF, LOF, or putative benign/VUS according to the effect of the mutation on BK channel properties from available data. The genotype designations were non-overlapping. For phenotypes, binary data was generated for each individual by equating the presence or absence of each symptom to one or zero, respectively. Patients that exhibited more than one symptom appear in all relevant categories. Inclusion criteria were male and female patients of any age with a genetic finding of a KCNMA1 mutation, for which diagnostic patient-level data was available. Three patients with additional mutations in other genes were not excluded from analysis. The numerator reports the number of patients with the corresponding symptom, and the denominator is the number of patients with each mutation type. If a patient’s data was not specified for a given symptom, they were omitted from the denominator. GOF-gain of function, LOF- loss of function, VUS- variant of uncertain significance, PNKD-paroxysmal non-kinesigenic dyskinesia.