Table 1.

Summary of CSNK2B Clinical and Epilepsy Characteristics by Variant Type and Sex

Clinical Characteristics	All n = 25	LoF* n = 14	Non-LoF n = 11	Males n = 18	Females n = 7
Neurodevelopmental delay or disability	24	14	10	18	6
Speech delay or disability	23	13	10	18	5
Nonverbal	5	4	1	5	0
Motor delay or disability	22	14	8	16	6
Intellectual disability	18	11	6	13	5
Moderate to profound	9	6	3	9	0
Autistic features or autism	8	5	3	5	3
Problematic behavior	13	9	4	8	5
Ataxia or impaired coordination	9	7	2	7	2
Hypotonia	13	8	5	12	1
Seizures	21	13	8	15	6
Epilepsy	19	12	6	13	5
Age of epilepsy onset†
< 6 months	8	5	3	7	1
6-12 months	2	2	0	2	0
1-2 years	3	2	1	1	2
2-3 years	3	2	1	2	1
> 3 years	2	1	1	1	1
Generalized spike and wave	14	10	4	10	4
Generalized tonic or tonic-clonic seizures	11	8	3	9	2
Absence seizures‡	6	2	4	5	1
Myoclonic seizures	6	5	0	5	1
Atonic or myoclonic-atonic seizures	4	4	0	2	2
Focal-onset seizures	4	2	2	2	2
Multiple seizure types	10	6	4	9	1
Multiple anti-seizure medications	13	9	4	10	3
Medically refractory	8	5	3	7	1

^*All deletions, frameshift, nonsense and splice-site were considered predicted loss of function (LoF) for this table;

^†Age of onset could not be determined in one female LoF case;

^‡Including typical absence, atypical absence and myoclonic-absences.