Table 1:

Variants and clinical summaries for patients reported with NEUROD2 variants.

Patient source	This report	Sega et al, #1	Sega et al, #2
NEUROD2 de novo Variant	p.(Leu163Pro)	p.(Glu130Gln)	p.(Met134Thr)
Variant location notes	Second helix of bHLH	Basic region of first helix of bHLH; Glu130 is strictly conserved across all bHLH transcription factors	Basic region of first helix of bHLH
Patient’s current age, sex	14 years, female	6 years, female	5 years, male
Seizures	-	History of infantile spasms / hypsarrhythmia, initial control achieved with ketogenic diet. Currently on CBD oil, no seizures × 3 years.	History of infantile spasms / hypsarrhythmia, initial control achieved with vagal nerve stimulator, which remains in place, no seizures × 4 years.
Intellectual delay	Pervasive developmental disorder, sensory processing disorder.	Significant global intellectual delay. Nonverbal but interactive.	Significant global intellectual delay. Nonverbal but interactive.
Motor delay	Mild gross motor delay	Significant fine and gross motor delay. Limited us of arms and hands, requires turning at night. Able to sit, unable to stand, but has some mobility with specialized walker.	Fine and gross motor delay. Able to feed himself with some help, unable to hold a pencil. Walks and runs without assistance.
Brain MRI	Unremarkable	Bilateral increased T2 signal in putamina, parietal periventricular white matter; thin corpus callosum	Mild general cerebral volume loss; absence of pituitary T1 bright spot