Description
Scientific Background
- Autosomal dominant non-syndromic intelligence impairment (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 – Epilepsy (ARHGEF9, XL)
- EIEE09 – Epilepsy with mental retardation in girls (Juberg-Hellmann syndrome) (PCDH19, XL)
- EIEE10 – Microcephaly seizure developmental delay syndrome (MCSZ) (PNKP, AR)
- EIEE11 – Early Infantile Epileptic Encephalopathy, Ohtahara Syndrome (SCN2A, AD)
- EIEE12 – Infantile malignant migratory partial epilepsy (MMPSE) (PLCB1, AR)
- EIEE13 – Early Infantile Epileptic Encephalopathy (SCN8A, AD)
- EIEE14 – Infantile malignant migratory partial epilepsy (MMPSI) (KCNT1, AD)
- EIEE15 – Early Infantile Epileptic Encephalopathy (ST3GAL3, AR)
- EIEE16 – Infantile malignant migratory partial epilepsy (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 glycoprotein biosynthesis 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.
