Table 1.

summary of the molecular findings and the clinical presentation of the ATP1A3 mutation carriers

	Case 1	Case 2	NSB1251
Mutation in ATP1A3 gene	NM_152296.4(ATP1A3):c.2401G>A (p.Asp801Asn)	NM_152296.4(ATP1A3):c.2443G>A (p.Glu815Lys)	NM_152296.4(ATP1A3):c.2438C>T (p.Ala813Val)
Pathogenicity	Reported in ClinVar (ID:37108)	Reported in ClinVar (ID:37107)	Not reported, predicted damaging
Inheritance	De novo	De novo	Inherited from the mother
Age of onset for psychiatric symptoms	10	12	10
Sex	Male	Male	Male
Main psychiatric symptoms	Fluctuant visual and auditory hallucinations, delusions of persecution, psychomotor agitation and aggressiveness	Visual hallucinations (distortion of lights and shadows) followed by auditory and tactile hallucinations, delusion with persecutory and mystic ideas Negative symptoms with major social withdrawal	Positive symptoms: delusions and hallucinations
Dysmorphic features	Short philtrum, large ears with low implantation, gum hypertrophy, exotropia and macrocephaly	Macroglossy, nystagmus, esotropia and short philtrum and cleft palate	?
Neurodevelopmental delays	Moderate intellectual disability, developmental delays, reading and writing skills are not acquired	Walk at 25 months, first word around 4 years old, severe hypotonia	Intellectual disability with verbal intelligence quotient (IQ) of 75 and performance IQ of 57
Response to treatment	Poor	Poor	?
Associated phenotype	Recurrent major depressive disorder	Autism Spectrum Disorder	Autism Spectrum Disorder