TABLE 1

Clinical features and EEG finding of 6 patients with 22q11.2 deletion syndrome with epilepsy.

Age/sex	Age at onset of seizure	seizure type	EEG finding	Response to AED	Brain MRI findings	Delayed development	Intellectual disability	Psychiatric disorder	Deletion size
3 yr/M	20 days	Focal	G. slow BA	Well-controlled on BZO	Multifocal T2 HSI in WM, cerebral atrophy	+	NA(he died)	_	2.5 Mb
22 yr/M	19 years	GTC	G. slow BA	Well-controlled on LEV	Superior cerebellar vermis hypoplasia	+	+	_	Fish: 46,XY.ish 22q11.2(TUPLE1x1)
13 yr/M	3 months	GTC	Normal	Well-controlled on PHB, currently off AED	Normal	+	Borderline intellectual ability	ADHD	4.9 Mb
20 yr/M	8 years	GTC	Normal	Well-controlled on VPA	Pallidal and subcortical calcification	+	+	Psychosis, mood disorder	2.5 Mb
5 yr/M	5 years	Focal	Normal	Well-controlled on LEV	Normal	+	+	_	652 Kb
2.5 yr/M	1 month	Focal	BIRD+ED over the central region	Well-controlled on LEV	Scattered abnormalities in the deep WM, tiny lacunar infarct at right thalamus, CSP, thin CC, cerebral atrophy	+	+	_	2.5 Mb
M - Male, yr - Year, GTC - Generalized tonic-clonic, G - Generalized, BA - Background activity, BIRD - Brief ictal rhythmic discharge, ED - Epileptiform discharge, BZO - Benzodiazepine, LEV - Levetiracetam, VPA - Valproic acid, AED - Antiepileptic drug, HSI - High signal intensity, WM - White matter, CSP - Cavum septum pellucidum, CC - Corpus callosum, NA - Not applicable, ADHD - Attention deficit hyperactivity disorder