TABLE 2.

Phenotypic characteristics of the entire cohort of children with genetic IESS.

Phenotypic features (n = 124)	N (%)
Median age of onset of spasms in months with Q1, Q3	5 months (Q1, Q3: 3, 10)
Developmental delay before the onset of spasms	117 (94.3%) Global developmental delay (109), Only Language and Social adaptive delay (8)
Seizures other than epileptic spasms (n with %)	83 (66.9%)
Pre‐existing epilepsy syndrome	21 (16.9%) Early infantile developmental and epileptic encephalopathy (20), Epilepsy of infancy with migrating focal seizures (1)
Other relevant history
History of neonatal encephalopathy or seizures	15 (12.09%)
Consanguinity	19 (15.3%)
Family history of epileptic spasms/seizures/neurological illness	9 (7.2%)
Examination findings
Facial dysmorphism	87 (70.1%)
Microcephaly	96 (77.4%)
Central hypotonia	101 (81.4%)
Autistic features	53 (42.7%)
Movement disorder	72 (58.0%)
With onset before the onset of epileptic spasms	17
Dystonia/choreoathetosis/both/stereotypies	24/10/7/38
Non‐specific neuroimaging abnormalities without definite etiological clue	40 (32.3%)
Brain atrophy	16
Non‐specific changes in cerebral cortex	2
Non‐specific changes in white matter	2
Non‐specific changes (morphology or signal intensity) in corpus callosum	15
Non‐specific changes (morphology or signal intensity) in basal ganglia/ thalamus/brainstem/cerebellum	2
Ventriculomegaly	3
Therapeutic response
Clinical response to epileptic spasms attained anytime	97 (72.5%)
Response to initial hormonal therapy	74 (59.6%)
Response to vigabatrin	31
Response to nitrazepam	25
Response to zonisamide	4
Response to topiramate	None
Response to KD	5
Relapse observed	43 (34.6%)