- Autosomal dominant non-syndromic intellectual disability (SYNGAP1, AD)
- EIEE01 - Early infantile epileptic encephalopathy, Ohtahara syndrome (ARX, XL)
- EIEE02 - Atypical Rett syndrome (CDKL5, XL)
- EIEE03 - Early infantile epileptic encephalopathy (SLC25A22, AR)
- EIEE04 - Early infantile epileptic encephalopathy, Ohtahara syndrome (STXBP1, AD)
- EIEE05 - West syndrome (SPTAN1, AD)
- EIEE06 - Dravet syndrome, SMEI (SCN1A, AD)
- EIEE07 - Early infantile epileptic encephalopathy, Ohtahara syndrome (KCNQ2, AD)
- EIEE08 - Hyperekplexia and Epilepsy (ARHGEF9, XL)
- EIEE09 - Epilepsy with intellectual disability restricted to females (Juberg-Hellmann syndrome) (PCDH19, XL)
- EIEE10 - Microcephaly, seizures and developmental delay (MCSZ) (PNKP, AR)
- EIEE11 - Early infantile epileptic encephalopathy, Ohtahara syndrome (SCN2A, AD)
- EIEE12 - Malignant migrating partial seizures of infancy (MMPSI) (PLCB1, AR)
- EIEE13 - Early infantile epileptic encephalopathy (SCN8A, AD)
- EIEE14 - Early infantile epileptic encephalopathy, malignant migrating partial seizures of infancy (MMPSI) (KCNT1, AD)
- EIEE15 - Early infantile epileptic encephalopathy (ST3GAL3, AR)
- EIEE16 - Early infantile epileptic encephalopathy, malignant migrating partial seizures of infancy (MMPSI) (TBC1D24, AR)
- EIEE17 - Early infantile epileptic encephalopathy (GNAO1, AD)
- EIEE18 - Early infantile Epileptic encephalopathy without burst suppression (SZT2, AR)
- EIEE19 - Early infantile epileptic encephalopathy (GABRA1, AD)
- EIEE20 - Multiple congenital anomalies-hypotonia-seizure syndrome type 2 (MCAHS2) (PIGA, XL)
- EIEE21 - Early infantile epileptic encephalopathy (NECAP1, AR)
- EIEE22 - Congenital defect of glycosylation type 2m (CDG2M) (SLC35A2, XL)
- EIEE23 - Early infantile epileptic encephalopathy (DOCK7, AR)
- EIEE24 - Early infantile epileptic encephalopathy (HCN1, AD)
- EIEE25 - Early infantile epileptic encephalopathy (SLC13A5, -)
- EIEE26 - Early infantile epileptic encephalopathy (KCNB1, AD)
- EIEE27 - Early infantile epileptic encephalopathy (GRIN2B, AD)
- EIEE28 - Early infantile epileptic encephalopathy (WWOX, AR)
- EIEE29 - Early infantile epileptic encephalopathy (AARS, AR)
- EIEE31 - Early infantile epileptic encephalopathy (DNM1, AD)
- EIEE32 - Early infantile epileptic encephalopathy (KCNA2, AD)
- EIEE33 - Early infantile epileptic encephalopathy (EEF1A2, AD)
- EIEE34 - Early infantile epileptic encephalopathy (SLC12A5, AR)
- EIEE35 - Early infantile epileptic encephalopathy (ITPA, AR)
- EIEE36 - Early infantile epileptic encephalopathy (ALG13, XL)
- EIEE37 - Early infantile epileptic encephalopathy (FRRS1L, AR)
- EIEE38 - Early infantile epileptic encephalopathy (ARV1, AR)
- EIEE39 - Early infantile epileptic encephalopathy (SLC25A12, AR)
- EIEE40 - Early infantile epileptic encephalopathy (GUF1, AR)
- EIEE41 - Early infantile epileptic encephalopathy (SLC1A2, AD)
- EIEE42 - Early infantile epileptic encephalopathy (CACNA1A, AD)
- EIEE43 - Early infantile epileptic encephalopathy (GABRB3, AD)
- EIEE44 - Early infantile epileptic encephalopathy (UBA5, AR)
- EIEE45 - Early infantile epileptic encephalopathy (GABRB1, AD)
- EIEE46 - Early infantile epileptic encephalopathy (GRIN2D, AD)
- EIEE47 - Early infantile epileptic encephalopathy (FGF12, AD)
- EIEE48 - Early infantile epileptic encephalopathy (AP3B2, AR)
- EIEE49 - Early infantile epileptic encephalopathy (DENND5A, -)
- EIEE50 - Early infantile epileptic encephalopathy (CAD, AR)
- EIEE51 - Early infantile epileptic encephalopathy (MDH2, AR)
- EIEE52 - Early infantile epileptic encephalopathy (SCN1B, AR)
- EIEE53 - Early infantile epileptic encephalopathy (SYNJ1, AR)
- EIEE54 - Early infantile epileptic encephalopathy (HNRNPU, AD)
- EIEE55 - Early infantile epileptic encephalopathy (PIGP, AR)
- EIEE56 - Early infantile epileptic encephalopathy (YWHAG, AD)
- EIEE57 - Early infantile epileptic encephalopathy (KCNT2, AD)
- EIEE58 - Early infantile epileptic encephalopathy (NTRK2, AD)
- EIEE59 - Early infantile epileptic encephalopathy (GABBR2, AD)
- EIEE60 - Early infantile epileptic encephalopathy (CNPY3, AR)
- EIEE61 - Early infantile epileptic encephalopathy (ADAM22, AR)
- EIEE62 - Early infantile epileptic encephalopathy (SCN3A, AD)
- EIEE63 - Early infantile epileptic encephalopathy (CPLX1, AR)
- EIEE64 - Early infantile epileptic encephalopathy (RHOBTB2, AD)
- EIEE65 - Early infantile epileptic encephalopathy (CYFIP2, AD)
- EIEE69 - Early infantile epileptic encephalopathy (CACNA1E, AD)
- EIEE70 - Early infantile epileptic encephalopathy (PHACTR1, AD)
- EIEE71 - Early infantile epileptic encephalopathy (GLS, AR)
- EIEE72 - Early infantile epileptic encephalopathy (NEUROD2, AD)
- EIEE73 - Early infantile epileptic encephalopathy (RNF13, AD)
- EIEE74 - Early infantile epileptic encephalopathy (GABRG2, AD)
- EIEE75 - Early infantile epileptic encephalopathy (PARS2, AR)
- EIEE76 - Early infantile epileptic encephalopathy (ACTL6B, AR)
- EIEE77 - Early infantile epileptic encephalopathy (PIGQ, AR)
- EIEE78 - Early infantile epileptic encephalopathy (GABRA2, AD)
- EIEE79 - Early infantile epileptic encephalopathy (GABRA5, AD)
- EIEE80 - Early infantile epileptic encephalopathy (PIGB, AR)
- Epileptic encephalopathy (CHD2, AD)
- Epileptic encephalopathy (GABRB2, AD)
- Epileptic encephalopathy (GPHN, AR)
- Epileptic encephalopathy (PPP3CA, AD)
- Epileptic encephalopathy (RANGAP1, AD)
- Lissencephaly, X-linked (DCX, XL)
- Mitochondrial DNA depletion syndrome 4A (Alpers type) (POLG, AR)
- Rett syndrome (MECP2, XL)
- Rett syndrome, congenital variant (FOXG1, AD)
Disorders are inherited in an autosomal dominant (AD) or autosomal recessive (AR) or X-linked (XL) pattern. Genes in bold are core genes.
Epileptic Encephalopathy, Early Infantile (EIEE) (1)
Genes: ARX, CDKL5, KCNQ2, PCDH19, SCN1A, SCN2A, STXBP1
Epileptic Encephalopathy, Early Infantile (EIEE) (2)
Genes: DNM1, GABRA1, GABRB3, GNAO1, KCNA2, KCNT1, SCN8A, SLC12A5, SLC13A5, UBA5, WWOX
Epileptic Encephalopathy, Early Infantile (EIEE) (3)
Genes: GRIN2B, HCN1, KCNB1, PIGA, PLCB1, PNKP, SLC35A2, SPTAN1
Epileptic Encephalopathy, Early Infantile (EIEE) extended panel
Genes: AARS, ACTL6B, ADAM22, ALG13, AP3B2, ARHGEF9, ARV1, ARX, CACNA1A, CACNA1E, CAD, CDKL5, CHD2, CNPY3, CPLX1, CYFIP2, DCX, DENND5A, DNM1, DOCK7, EEF1A2, FGF12, FOXG1, FRRS1L, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRG2, GLS, GNAO1, GPHN, GRIN2B, GRIN2D, GUF1, HCN1, HNRNPU, ITPA, KCNA2, KCNB1, KCNQ2, KCNT1, KCNT2, MDH2, MECP2, NECAP1, NEUROD2, NTRK2, PARS2, PCDH19, PHACTR1, PIGA, PIGB, PIGP, PIGQ, PLCB1, PNKP, POLG, PPP3CA, RANGAP1, RHOBTB2, RNF13, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SLC13A5, SLC1A2, SLC25A12, SLC25A22, SPTAN1, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, UBA5, WWOX, YWHAG
For detailed information on epilepsies and diagnostics, please visit our overview page EPILEPSY.
