Table 1 Different affected genes by seizure group.

From: Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy

Group of genes

Ion channel

Metabolic

Developmental

Miscellaneous/Mitochondrial

SZ

(N = 18)

KCNT1

B4GALNT1

CDKL5

 

DNM1L

KCNQ2 (N = 3)

CYFIP2

 

POLG

PRRT2

SLC6A5

  

SCN1A (N = 2)

SLC13A5

  

SCN2A (N = 2)

   

SCN8A

   

2q24 dup

   

SZ+

(N = 31)

CACNA1E

ACBD5

ANKRD11

STXBP1 (N = 2)

BSND

KCTD7

ALG13

ARX

TBCK

FLVCR2

KCNQ5

ASNS

BRAT1

3q28q29 dup

GLDC

 

CAD

CUL4B

5p15 dup

HADHB

 

MOCS2

DNM1

9p24del&dup/12q24 dup

MFSD8

 

SLC52A3

MECP2 (N = 2)

 

STUB1

 

SUOX

PRUNE1

  
 

TPP1

   
  1. N refers to the number of patients affected. For those genes where no number is indicated in brackets, there was only a single patient identified. Genes in bold indicate those with management change. SZ Seizures only; SZ+ Seizures with other co-morbidity.
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