Table 2 PCDH19 Variant: p.Tyr366Leufs*10 (c.1091dupC or c.1091_1092insC)

From: A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity

#	Age at study	Seizure onset			Subsequent seizure types	Fever sensitivity^+/−	Seizure offset	Inheritance	Language delay^+/−	Intellectual disability	Psychiatric comorbidity	Reference
		Age	Type	Fever^+/−
1	23y	18m	TC	NS	NS	NS	NS	Paternal	NS	Profound	Hyperactive	[1, 2, 27]^a
2	22y	NS	NS	NS	NS	NS	NS	Paternal	NS	Normal	None	[1, 2, 27]^a
3	21y	NS	NS	NS	NS	NS	NS	Paternal	NS	Normal	None	[1, 2, 27]^a
4	20y	NS	NS	NS	NS	NS	NS	Paternal	+	Mild	Hyperactive	[1, 2, 27]^a
5	22y	NS	NS	NS	NS	NS	NS	Paternal	NS	Normal	None	[1, 2, 27]^a
6	18y	NS	NS	NS	NS	NS	NS	Paternal	NS	Normal	None	[1, 2, 27]^a
7	8y	NS	NS	NS	NS	NS	NS	Paternal	NS	Normal	None	[1, 2, 27]^a
8	14y	NS	NS	NS	NS	NS	NS	Paternal	NS	Severe	Hyperactive	[1, 2, 27]^a
9	12y	NS	F	NS	A, GTC	NS	NS	Paternal	NS	Normal	None	[1, 2, 27]^a
10	11y	NS	NS	NS	NS	NS	NS	Paternal	NS	Normal	None	[1, 2, 27]^a
11	14y	NS	NS	NS	F, GTC	NS	NS	Paternal	NS	Profound	Hyperactive	[1, 2, 27]^a
12	8y	NS	NS	NS	NS	NS	NS	Paternal	NS	Moderate	Hyperactive	[1, 2, 27]^a
13	6y	NS	NS	NS	NS	NS	NS	Paternal	NS	Moderate	Hyperactive	[1, 2, 27]^a
14	6y	NS	NS	NS	NS	NS	NS	Paternal	NS	Severe	Hyperactive	[1, 2, 27]^a
15	5y	NS	NS	NS	NS	NS	NS	Paternal	NS	Severe	Hyperactive	[1, 2, 27]^a
16	2y	NS	NS	NS	NS	NS	NS	Maternal	NS	Mild	None	[1, 2]^a
17	2y	NS	NS	NS	NS	NS	NS	Maternal	NS	NS	None	[1, 2]^a
18	≥5y	4m	GTC	−	A, F, SE	NS	Ongoing	Maternal	+	Severe	BD, hyperactive, impulsive	[2, 27, 58]^a
19	NS	7m	NS	NS	NS	NS	NS	Maternal	NS	NS	NS	[2, 27, 58]^a
20	NS	14m	NS	+	NS	NS	NS	Paternal	NS	NS	NS	[2, 27, 58]^a
21	14y	7m	GTC	NS	−	+	11y	Paternal	+	Severe	Hyperactive	[55]^a
22	NS	NS	NS	NS	NS	NS	NS	De novo	NS	NS	NS	[22]
23	7.5y	17m	F	NS	−	NS	NS	De novo	NS	Mild	Autistic traits^*	[54]
24	9y	2m	F	NS	−	NS	NS	De novo	NS	NS	No ASD^*	[54]
25	3y	6m	FBTC, F	NS	−	−	Ongoing	De novo	+	Normal	AD, hyperactive, No ASD^*	[49, 54]
26	13y	17m	TC	−	−	+	12y	De novo	NS	Moderate	Autistic traits	[16]
27	8y	5m	F	+	T	+	Ongoing	Unknown	NS	Mild	Impulsive	[57]^b
28	1y	6m	F	NS	GTC	+	Ongoing	De novo	NS	Yes	None	[24]
29	4y	11m	GTC, F	NS	F	+	Ongoing	De novo	NS	Yes	AD	[24]
30	7y	7m	NS	NS	GTC, SE	+	NS	Unknown	NS	Severe	Autistic traits^*	[59]

FBTC Focal-to-bilateral seizure, F focal seizure, NS not specified, AD attention-deficit, GTC generalized tonic-clonic seizure, A absence seizure, DB destructive behavior, SE status epilepticus, T tonic seizure, TC tonic-clonic seizure
^*Information obtained from author
^aOriginal EFMR family
^bReported as c.1300_1301insC

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Table 2 PCDH19 Variant: p.Tyr366Leufs*10 (c.1091dupC or c.1091_1092insC)

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