Table 1 PCDH19 Variant: p.Asn340Ser (c.1019A>G)

#	Age at study	Seizure onset			Subsequent seizure types	Fever sensitivity^+/−	Seizure offset	Inheritance	Language delay^+/−	Intellectual disability	Psychiatric comorbidity	Reference
		Age	Type	Fever^+/−
1	3.5y	9m	GTC	+	F, SE	+	Controlled	De novo	+	Mild	None	[4]
2	6y	8m	F	NS	GTC	+	Ongoing	De novo	+	Mild	BD	[4]
3	44y	8m	TC	NS	−	NS	17y	Unknown	NS	Normal	NS	[8]^a
4	16y	6m	F	+	TC, SE	+	NS	Maternal	NS	Mild	No autistic traits^*	[8, 54]^a
5	11y	10m	F	+	−	+	NS	De novo	+	Moderate	No autistic traits^*	[8, 54]
6	7.5y	12m	FBTC	+	−	+	Ongoing	De novo	NS	Normal	None	[9]
7	6y	13m	TC	NS	NS	NS	Ongoing	#Maternal	NS	Moderate	Autism	[11]^b
8	3y	17m	TC	NS	NS	NS	NS	#Maternal	+	NS	NS	[11]^b
9	NS	12m	NS	NS	NS	NS	14y	De novo	NS	Normal	None	[11]^b
10	5y	13m	F	NS	FBTC	+	Ongoing	De novo	NS	Normal	None	[55]^c
11	5y	25m	GTC	−	None	−	25m	De novo	NS	Normal	None	[55]^c
12	NS	NS	NS	NS	NS	NS	NS	Unknown	NS	NS	NS	[22]
13	32y	15m	NS	−	F, GTC, SE	−	NS	Unknown	NS	Mild	ASD	[56]
14	5.5y	10m	F	NS	−	NS	NS	De novo	NS	Borderline	Psychosis, ED, no autistic traits^*	[54]
15	10y	5m	F	NS	−	NS	NS	De novo	NS	DQ 72 (NS)	Autistic traits^*	[54]
16	8y	12m	F	NS	−	NS	NS	#Maternal	NS	Normal	No autistic traits^*	[54]
17	8y	11m	C	+	NS	+	5.5y	#Maternal	−	Normal	None	[23]^d
18	NS	N/A	N/A	N/A	N/A	N/A	N/A	NS	−	Normal	None	[23]^d
19	6y	15m	HC	+	TC, F, T, SE	+	Ongoing	Unknown	NS	Moderate	Autistic, hyperactive	[16]
20	8y	5m	F, T	+	−	+	Ongoing	De novo	NS	DQ 44 (7y4m)	NS	[57]
21	5.5y	8m	TC, F	+	−	+	Ongoing	Maternal	NS	DQ 38 (4y7m)	Autistic, hyperactive	[57]
22	NS	NS	NS	+	NS	+	NS	De novo	NS	NS	NS	[5]^e
23	9y	7m	GTC	NS	F	+	Ongoing	De novo	NS	Yes	Autism, aggression	[24]
24	3y	8m	GTC	NS	F, MC	+	Ongoing	Maternal	NS	Yes	Autism, aggression	[24]
25	7y	18m	GTC	NS	−	+	Ongoing	De novo	NS	Normal	None	[24]

GTC generalized tonic-clonic seizure, F focal seizure, SE status epilepticus, BD behavioral disturbances, NS not specified, TC tonic-clonic seizure, FBTC focal-to-bilateral seizure, ASD autism spectrum disorder, MC myoclonic seizure, ED eating disorder, C clonic seizure, N/A not applicable, HC hemiclonic seizure, T tonic seizure
^*Information obtained from the author
#Asymptomatic female
^abcdFamilial relationships (^amother/daughter; ^bmother/daughters; ^ctwins; ^dmother/daughter)
^eReported as p.Asn370Ser

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