Table 1. Clinical features of individuals with KCNJ10 variants.

	R18Q 7/175 (4%)	R348H 1/175 (0.6%)	V84M21/175 (0.6%)
Phenotype
AEP (137, 78.3%)	5	1	1
“Simplex” ASD (38, 21.7%)	2	0	0
Inheritance
Maternal	4/7 (57.1%)	—	1/1
Paternal	2/7 (28.6%)	1/1	—
Both	—	—	—
Unknown	1/7 (14.3%)	—	—
Gender
Male	7/7 (100%)	—	1/1
Female	—	1/1	—
ASD diagnosis
Autism	—	—	1/1
PDDNOS	7/7 (100%)	1/1	—
Asperger’s syndrome	—	—	—
Seizures
Yes	3/7 (42.9%)	1/1	1/1
No	4/7 (57.1%)	—	—
Type of seizures
Focal	—	—	1/1
Generalized	1/3 (33.3%)	—	—
Spasms	2/3 (66.7%)	1/1	—
EEG abnormalities
Yes	5/7 (71.4%)	1/1	1/1
No	2/7 (28.6%)	—	—
EEG Site
Anterior	3/5 (60%)	—	1/1
Posterior	—	—	—
Temporal	—	—	—
Multifocal/Diffuse	2/5 (40%)	1/1	—
Cognitive Development
Normal-Borderline	1/7 (14.3%)	—	—
Mild-Moderate Delay	5/7 (71.4%)	—	—
Severe Delay	1/7 (14.3%)	1/1	1/1