TABLE 1.

Clinical features of reported individuals with KCNH5 pathogenic variants.

Patient	Sex	Age at the time of reporting	Age at seizure onset	Pathogenic variant	Initial seizure type(s)	EEG findings and evolution	Craniocerebral MRI	Comorbid disorder	AEDs
The first report	Male	13 years	6 months	c.980G > A (p.R327H)	Non-febrile GTCS	Frequent multifocal spikes, almost continuous during sleep, even with good seizure control	N/A	ASD; epileptic encephalopathy; language delay	Valproic acid
Case 1	Male	4 years	8 months	c.980G > A (p.R327H)	Non-febrile GTCS	Wide high 2–3 Hz periodic sharp wave complexes	Normal	ASD; language delay; bad behavior control	Valproic acid and lamotrigine
Case 2	Female	4 years	6 months	c.2020-4A > G (splicing)	Non-febrile eclampsia nutation	High-amplitude slow waves and spikes or sharp waves occurring irregularly	Normal	Psychomotor development delay	Vigabatrin and valproic acid
Case 3	Male	2 years	7 months	c.962G > A (p.S321N)	Non-febrile clonic seizures	Normal	Normal	None	Valproic acid