Research Article
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] |
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