Table 4 Clinical description and genetic diagnosis of 9 patients identified with epilepsy
From: Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy
Case | Disease gene | Inheritance | Mutations and protein alteration | Clinical implications of genetic information | Novel/reported | Other variants |
|---|---|---|---|---|---|---|
1 | PAFAH1B1 | De novo, AD | NM_000430 c.830A>C p.H277P | Lissencephaly 1 OMIM: 607432 | Reported | Â |
2 | LGI1 | Heterozygous, Paternal, AD | NM_000682 c.215+2T>A p.Ile187Met | Epilepsy, familial temporal lobe,1. OMIM: 600512 | Novel | ADRA2B:NM_000682: c.561C>G: p.Ile187Met VUS |
3 | SCN1A | De novo, AD | NM_001165963 c.680T>G p.Ile227Ser | Dravet syndrome OMIM: 607208 | Reported | Â |
4 | ATP1A3 | De novo, AD | NM_001256213 c.2476G>A p.Glu826Lys | Alternating hemiplegia of childhood, OMIM: 614820 | Novel | Â |
5 | TSC2 | De novo, AD | NM_000548.4:c.226-2A>G | Tuberous sclerosis 2 OMIM:191100 | Reported | Â |
6 | PCDH19 | De novo, XL | NM_001184880.1:c.1605_1612del:p.K536fs | Epileptic encephalopathy, early infantile, 9 OMIM:300088 | Novel | Â |
7 | STXBP1 | De novo, AD | NM_003165.3:c.429+1G>C | Epileptic encephalopathy, early infantile, 4 OMIM: 612164 | Novel | SET:NM_001122821.1: c.746A>G:p.D249G |
8 | FGF12 | De novo, AD | NM_021032.4:c.341G>A,P | Epileptic encephalopathy, early infantile, 47 OMIM:617166 | Reported | Â |
9 | GABRB3 | De novo, AD | NM_000814.6:c.154C>G,P | Epileptic encephalopathy, early infantile, 43 OMIM:617113 | Novel | Â |