Table 2.

Comparison between reported cases and the current cohort

Case	Current study	Published PMID: 24399846
Variant	c.142C>T	c.142C>T
Number of affected	1	6
Gender	F	F and M
Consanguinity	+	+
Growth parameters at birth	Normal	Normal
GDD	+	+
Seizure age of onset	3 months	NA
Seizures’ semiology	Generalized tonic Hemispasms	Generalized tonic and clonic
Pharmacoresistant seizures	+	+
Height	−1.72 SD	NA
Weight	−3.22 SD	NA
Head Circumference	−3.78 SD	NA
Axial hypotonia	+	+
Appendicular Hypertonia	+	+
Brain MRI	Delayed myelination for the patient's age Benign enlargement of the subarachnoid spaces Moderate supratentorial ventriculomegaly Thinning of the corpus callosum Thinning of the corpus callosum	• Non‐specific generalized brain atrophy
EEG	• Generalized slowing	Generalized slowing Frequent generalized epileptiform discharges

EEG, electroencephalography; F, female; GDD, global developmental delay; M, male; MRI, magnetic resonance imaging; NA, not available.