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Epileptic encephalopathy

From SNPedia

Ohtahara syndrome (OS), also known as Early Infantile Epileptic Encephalopathy with Burst-Suppression (EIEE), is a progressive epileptic encephalopathy. The syndrome is outwardly characterized by tonic spasms and partial seizures, and receives its more elaborate name from the pattern of burst activity on an electroencephalogram (EEG). It is an extremely debilitating progressive neurological disorder, involving intractable seizures and severe mental retardation.Wikipedia

Early infantile epileptic encephalopathy is a genetically a very heterogenous set of disorders; to put it another way, mutations in ~50 genes are considered to cause epileptic encephalopathy. As described in OMIM, these genes and the usual mode of inheritance (MOI) for their EIEE mutations include:

EIEE type Gene MOI
1 ARX XLR
2 CDKL5 XLD
3 SLC25A22 AR
4 STXBP1 AD
5 SPTAN1 AD
6 SCN1A AD
7 KSNQ2 AD
8 ARHGEF9 XLR
9 PCDH19 XL
10 PNKP AR
11 SCN2A AD
12 PLCB1 AR
13 SCN8A AD
14 KCNT1 AD
15 ST3GAL3 AR
16 TBC1D24 AR
17 GNAO1 AD
18 SZT2 AR
19 GABRA1 AD
20 PIGA XLR
21 NECAP1 AR
22 SLC35A2 XLD
23 DOCK7 AR
24 HCN1 AD
25 SLC13A5 AR
26 KCNB1 AD
27 GRIN2B AD
28 WWOX AR
29 AARS AR
30 SIK1 AD
31 DNM1 AD
32 KCNA2 AD
33 EEF1A2 AD
34 SLC12A5 AR
35 ITPA AR
36 ALG13 XLD
37 FRRS1L AR
38 ARV1 AR
39 SLC25A12 AR
40 GUF1 AR
41 SLC1A2 AD
42 CACNA1A AD
43 GABRB3 AD
44 UBA5 AR
45 GABRB1 AD
46 GRIN2D AD
47 FGF12 AD
48 AP3B2 AR
49 DENND5A AR