TABLE 1.

Clinical and neuroimaging features associated with of PLXNA1 developmental encephalopathy

Patient	DB13-040
Age at last evaluation	16 years
Gender	Male
Dysmorphic facial features	Sparse lateral eyebrows, hypoplastic infraorbital ridge, small uvula, cupped, low-set ears
Hair findings	Sparse pattern on temples and lateral forehead
Dermatologic findings	Atopic dermatitis, seborrheic dermatitis, angular cheilitis
Seizures
Onset	15 months
Type	Ictal vocalization with tonic posturing and upward eye deviation, tonic clonic, behavioral arrest
Treatment	Multiple medications, intractable
Other neurological features
DD/ID	Nonverbal, minimal sign language. Sat at 12–15 months, walked at 2.5 years. Autism spectrum disorder
Tone	Normal
MRI findings	Mild prominence of ventricles and extra-axial fluid spaces
EEG findings	Bilateral spike and wave discharges lasting up to two seconds, consistent with generalized epilepsy
Variant information	PLXNA1:NM_032242:chr3:g.126735788, exon16:c.G3184A:p.G1062S

DD, developmental delay; ID, intellectual disability.