Epileptic encephalopathy
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 |
