Table 1.

Summary of clinical features and family history of patients included in the study.

Patient #	Sex	Age at WES diagnosis	Age at onset of epilepsy	Type of seizures	Frequency of Seizures	Additional clinical features	Epilepsy/epilepsy syndrome	Family History	Anti-seizure medications used	Outcome (seizures)
1	F	6 mo.	Neonate	Tonic spasms in clusters	Multiple per day	Encephalopathy, hypotonia	Ohtahara syndrome	No	Levetiracetam, clobazam, valproic acid, phenobarbital, zonisamide	Developmental delay (improvement of seizures)
2	F	18 y.	14 y.	Generalized tonic clonic, absences, myoclonic	Multiple per day	Visual hallucinations, myoclonus	Progressive myoclonus epilepsy	No	Levetiracetam, valproate, lamotrigine, clobazam, topiramate, ketogenic diet, zonisamide, phenobarbital	Dementia (partial response of seizures)
3	M	18 mo.	4 mo.	Infantile spasms	Multiple per day	Encephalopathy, hypotonia, abnormal ocular motility, nystagmus, extrapyramidal syndrome	Early infantile epileptic encephalopathy	No	Vigabatrin, steroids, valproic acid, pyridoxal phosphate	Developmental delay (improvement of seizures)
4	F	17.5 y.	Neonate	Tonic spasms, myoclonic	Multiple per day	Encephalopathy, hypotonia	Early infantile epileptic encephalopathy	No	Vigabatrin, ACTH, Valproate	Developmental delay (improvement of seizures)
5	F	2 y.	Neonate	Early spasms	Multiple per day	Encephalopathy, hypotonia	Early infantile epileptic encephalopathy	No	Vigabatrin, high dose prednisone, ketogenic diet	Developmental delay (seizure free with ketogenic diet (KD)
6	M	18 mo.	5.5 mo.	Generalized tonic clonic	Variable	Mild early hypotonia	Generalized	No	Phenobarbital, oxcarbazepine, levetiracetam, valproate	Normal development (partial seizure control)
7	M	15 y.	8 mo.	Generalized, focal to bilateral tonic clonic	High	-	Unclassified	No	Valproate, tpopiramate, lamotrigine, ketogenic diet	Developmental delay (poor outcome of seizure control)
8	M	13 y.	5 mo.	Focal seizures, tonic, myoclonic	High	Hypotonia	Early infantile epileptic encephalopathy	Yes (brother)	Levetiracetam, valproic acid, ketogenic diet	Developmental delay (poor outcome of seizure control)
9	M	15 y.	3 mo.	Non motor behavior arrest, myoclonic, atonic	High	-	Myoclonic-astatic epilepsy (Doose syndrome)	No	Valproate, levetiracetam,topiramate, lamotrigine, vigabatrin, clobazam, rufinamide, ethosuximide, ketogenic diet	Developmental delay (poor outcome of seizure control)
10	M	5 y.	Unknown	Focal tonic spasms, myoclonic, generalized tonic clonic	Multiple per day	Macrosomia, axial hypotonia, limb hypertonia, movement disorder (dyskinesia, choreoathetosis)	Early infantile epileptic encephalopathy	No	ACTH, prednisone, valproate, topiramate	Developmental delay (poor seizure control)

Abbreviations: mo.: months, y.: years, ACTH: adrenocorticotropic hormone.