. 2020 Jul 1;8(9):e1376. doi: 10.1002/mgg3.1376

Table 2.

Clinical characteristics and detected variants of the patients with presumed disease‐causing variants (n = 40)

Patient	Sex	Onset age	Diagnosis age	Electroclinical syndrome	Type of seizures	Variant						FHx of seizure	DD/ID	Febrile seizure
Patient	Sex	Onset age	Diagnosis age	Electroclinical syndrome	Type of seizures	Gene	Inherit	Refseq ^a	c.DNA	Amino acid	ACMG ^b	FHx of seizure	DD/ID	Febrile seizure
E‐001	F	4 m	2 y 10 m	Dravet syndrome	FT GT	PCDH19	XL	NM_001184880.1	c.370G>T ^c	p.(Asp124Tyr)	LP	Mother	Mild	Yes
E‐002	F	4 m	2 y 9 m	Dravet syndrome	FIA FHC GAA	SCN1A	AD	NM_001165963.2	c.5596del ^c	p.(Asp1866fIlesTer11)	P	None	Severe	Yes
E‐010	F	6 m	7 y	Dravet syndrome	FHC GAA	SCN1A	AD	NM_001165963.2	c.602+1G>C ^c	NA	LP	None	Severe	Yes
E‐037	M	5 m	9 y 9 m	Dravet syndrome	GM GMA FHC	SCN1A	AD	NM_001165963.2	c.1088C>G	p.(Thr363Arg)	P	None	Severe	Yes
E‐039	F	11 m	9 y 8 m	Dravet syndrome	GTC FTC	PCDH19	XL	NM_001184880.1	c.1998del	p.(Asp667MetfsTer9)	LP	None	Mild	Yes
E‐044	M	5 m	12 y 7 m	Dravet syndrome	GTC FHC FIA	SCN1A	AD	NM_001165963.2	c.580G>A	p.(Asp194Asn)	LP	None	Severe	Yes
E‐051‐P	M	4 m	1 y 2 m	BFIE	FIA GTC	PRRT2	AD	NM_145239.2	c.971del	p.(Gly324GlufsTer13)	P	Sibling	Normal	None
E‐051‐S	F	4 m	7 y 3 m	BFIE	FIA GTC	PRRT2	AD	NM_145239.2	c.971del	p.(Gly324GlufsTer13)	P	Sibling	Normal	None
E‐076	M	6 m	16 y 4 m	Dravet syndrome	GTC FHK FIA	SCN1A	AD	NM_001165963.2	c.1178G>A	p.(Arg393His)	P	None	Severe	Yes
E‐079	M	3 d	2 y 9 m	BFNS	GT	KCNQ2	AD	NM_172107.3	c.1771C>T ^c	p.(Gln591Ter)	P	Sibling	Normal	None
E‐092	F	6 m	11 y 4 m	Dravet syndrome	GT FIA FM w V	SCN1A	AD	NM_001165963.2	c.2589+3A>T	NA	P	None	Severe	Yes
E‐100	M	2 d	9 y 3 m	Dravet syndrome	FHC FHK GT	SCN1A	AD	NM_001165963.2	c.4723C>T	p.(Arg1575Cys)	LP	None	Severe	Yes
E‐103	F	6 m	6 y 2 m	Dravet syndrome	FHC GM GTC	SCN1A	AD	NM_001165963.2	c.264+5G>C	NA	LP	Aunt	Severe	Yes
E‐104	M	5 m	8 y 11 m	Dravet syndrome	FHC FM w V GTC	SCN1A	AD	NM_001165963.2	c.4242C>G ^c	p.(Asn414Lys)	LP	None	Severe	Yes
E‐121	M	3 m	20 y	Dravet syndrome	GM GT	SCN1A	AD	NM_001165963.2	c.846del ^c	p.(Thr283ProfsTer10)	LP	None	Severe	Yes
E‐122	M	4 m	10 y 3 m	EOEE	IS FM GT	ARX	XLR	NM_139058.2	c.1146G>C ^c	p.(Lys382Asn)	LP	Cousin	Severe	None
E‐129	M	3 m	17 y 6 m	Dravet syndrome	GT GM FHC	SCN1A	AD	NM_001165963.2	c.2589+3A>T	NA	LP	None	Severe	Yes
E‐142	F	6 m	11 m	Dravet syndrome	GTC FIA	SCN1A	AD	NM_001165963.2	c.235G>A	p.(Asp79Asn)	LP	Cousin	Moderate	Yes
E‐147	F	1 m	10 y	EOEE	IS GM FC	STXBP1	AD	NM_003165.3	c.994_1003del ^c	p.(Lys332LeufsTer21)	P	None	Severe	None
E‐153	F	5 m	8 y 4 m	Dravet syndrome	FHC FIA GTC	SCN1A	AD	NM_001165963.2	c.2415+5G>A	NA	LP	None	Severe	Yes
E‐155	M	5 m	7 m	BFIE	FIA FHC	PRRT2	AD	NM_145239.2	c.649dupC	p.(Arg217ProfsTer8)	P	None	Normal	None
E‐170	F	4 m	5 m	EOEE	GT	KCNQ2	AD	NM_172109.3	c.773A>G	p.(Asn258Ser)	LP	None	Moderate	None
E‐180	F	6 m	8 y 5 m	Dravet syndrome	GT FHC	SCN1A	AD	NM_001165963.2	c.2792G>A	p.(Arg931His)	LP	Aunt	Severe	Yes
E‐199	M	6 m	10 y	BFIE/PKD	FIA GT	PRRT2	AD	NM_145239.2	c.649dupC	p.(Arg217ProfsTer8)	P	None	Normal	None
E‐200	F	6 m	10 m	BFIE	GT	PRRT2	AD	NM_145239.2	c.650del	p.(Arg217GlnfsTer12)	P	None	Normal	None
E‐204	M	9 m	1 y 10 m	EOEE	GA GTC	SCN8A	AD	NM_014191.3	c.778T>G ^c	p.(Phe260Val)	LP	None	Severe	None
E‐214	M	10 m	12 y 4 m	EOEE	GM GT FIA	ARX	XLR	NM_139058.2	c.1135C>T ^c	p.(Arg379Cys)	LP	Father	Severe	None
E‐218	M	4 m	5 m	BFIE	GTC	PRRT2	AD	NM_145239.2	c.649dupC	p.(Arg217ProfsTer8)	P	Sibling	Normal	None
E‐220‐P	F	3 m	5 m	BFIE	GTC FC	PRRT2	AD	NM_145239.2	c.649dupC	p.(Arg217ProfsTer8)	P	Sibling	Normal	None
E‐220‐S1	F	3 m	6 y 4 m	BFIE	GT	PRRT2	AD	NM_145239.2	c.649dupC	p.(Arg217ProfsTer8)	P	Sibling	Normal	None
E‐221	M	6 m	18 y 7 m	Dravet syndrome	FHC GTC FIA	SCN1A	AD	NM_001165963.2	c.5341T>G	p.(Tyr1781Asp)	LP	Cousin	Severe	Yes
E‐230	M	12 m	3 y 7 m	GEFSP	GT	SCN1A	AD	NM_001165963.2	c.5671G>T ^c	p.(Glu1891Ter)	P	None	Normal	Yes
E‐234	F	4 m	3 y	Unclassified	GT FHC	DEPDC5	AD	NM_001242896.1	c.3802C>T	p.(Arg1268Ter)	LP	None	Normal	Yes
E‐244	M	5 d	3 m	BFNS	FHC GT	SCN2A	AD	NM_021007.2	c.4712T>C	p.(Ile1571Thr)	LP	None	Normal	None
E‐251	F	4 m	1 y	BFIE	FIA GT	PRRT2	AD	NM_145239.2	c.649dupC	p.(Arg217ProfsTer8)	P	Aunt	Normal	None
E‐258‐P	M	2 m	6 m	EOEE	FIA IS	ARX	XLR	NM_139058.2	c.1146G>C ^c	p.(Lys382Asn)	LP	Cousin	Severe	None
E‐283	M	4 m	5 m	BFIE	GT	PRRT2	AD	NM_145239.2	c.649dupC	p.(Arg217ProfsTer8)	P	Mother Cousin	Normal	None
E‐294	M	4 m	4 m	BFIE	FHC GTC	PRRT2	AD	NM_145239.2	c.649dupC	p.(Arg217ProfsTer8)	P	Sibling	Normal	None
E‐391	M	2 d	2 m	EOEE	FIA GT	SCN2A	AD	NM_021007.2	c.5645G>A	p.(Arg1882Gln)	P	None	Severe	None
E‐392	M	1 d	1 m	EOEE	GT FT	SCN2A	AD	NM_021007.2	c.4609A>T	p.(Ile537Phe)	LP	None	Severe	None

Abbreviations: AD, autosomal dominant; BFIE, benign familial infantile epilepsy; BFNS, benign familial neonatal seizure; d, days; DD, developmental delay; EOEE, early‐onset epileptic encephalopathy; FHC, focal hemiclonic; FHK, focal hyperkinetic; FHx, family history; FIA, focal impaired awareness; FM w V, focal motor with version; FM, focal motor; FT, focal tonic; GAA, generalized atypical absence; GEFSP, generalized epilepsy with febrile seizure plus; GM, generalized myoclonic; GMA, generalized myoclonic absence; GT, generalized tonic; GTC, generalized tonic clonic; ID, intellectual disability; IS, infantile spasms; LP, likely pathogenic; m, months; NA, not available; P, pathogenic; PKD, paroxysmal kinesigenic dyskinesia; XL, X‐linked; XLR, X‐linked recessive; y, year.

^{^a}

The sequencing reads were aligned to the human genome reference (GRCh37: Genome Reference Consortium human build 37).

^{^b}

Identified variants were classified according to the standards and guidelines by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (Richards et al., 2015).

^{^c}

Novel variant not reported previously.