Table 4. Sequencing studies in pediatric epilepsy.

Phenotype	Number	NGS test (number of genes)	Diagnostic rate	Reference
EE	10 trios	WES	66%	25
EIEE	6 trios	WGS	67%	26
EE (IS, LGS)	356 trios	WES	12%	27
IS	18 trio	WES	28%	28
EE, ES	9 trios	WES	77%	29
PME	84 single	WES	31%	30
IS	10 trios	WES	40%	31
E EE	293 trio and singles	WES	38% 43%	32
EE	32 trios	WES	50%	33
EIEE	14 trio	WGS	100%	34
EIEE	14 trios	WES	36%	35
SEI	114	WES	56%	4
EIEE	733	WES	42%	36
DRE (abstract)	74	WES	17.3%	37
	141	E Panel	32.6%	37
	58	Targeted WES	44.8%	37
Focal	40 single	Targeted WES (64)	12.50%	38
Many	19	E Panel (67)	47%	39
Many	339	E Panel (110)	18%	40
E	87	E Panel (1/2 - 83, 1/2 - 106)	19.50%	41
EE	105	EE Panel (71 genes)	28.50%	42
EIEE	733	E Panel (2742 genes)	26.70%	36

This table lists the diagnostic yield in studies using whole genome sequencing (WGS), whole exome sequencing (WES) +/- gene panels, and epilepsy gene panels. It gives the number of probands and the studies using trios (sequencing the proband, mother and father). The diagnostic rate refers to the percentage of patients sequenced who had pathogenic mutations in genes known to cause epilepsy. The studies were done at different times (early sequencing did not include some of the genes we now know cause epilepsy in children) and their definition of pathogenicity varies. Only one of the studies—Howell et al. ⁴—can be called a population study and it was in only a subset of infants with intractable epilepsy. In general, infants with severe generalized epilepsy or epilepsy syndromes have the highest diagnostic yield with gene sequencing. DRE, drug-resistant epilepsy; E, epilepsy (included adults and children); E Panel, epilepsy gene panel; EE, epileptic encephalopathy; EIEE, early infant epileptic encephalopathy; ES, epilepsy syndromes; IS, infantile spasms; LGS, Lennox-Gastaut syndrome; PME, progressive myoclonic epilepsy; SEI, severe epilepsies of infancy.