Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies

Table 2

Genetic results for patients in this study from whole exome sequencing.

Patient	Causative variant(s)	Causative gene	OMIM number	Inheritance	Reference
C1	NM_002641:c.A535T:p.N179Y	PIGA	311770	X-linked recessive	Johnston et al. 2012 [4]
C2	NM_002641:c.A535T:p.N179Y	PIGA	311770	X-linked recessive	Johnston et al. 2012 [4]
C3	NM_005548:c.85G>C, p.Ala29Pro; and chr16:75672800-75680400del	KARS	601421	Autosomal recessive	McMillan et al. 2015 [5]
C4	NM_001005336:c.1075G>C, p.Gly359Arg	DNM1	602377	Autosomal dominant	EuroEPINOMICS-RES Consortium et al. 2014 [6]