SCIENTIFIC BACKGROUND

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, SLC12A5, SLC13A5, SLC1A2, SLC25A12, SLC25A22, SLC35A2, SPTAN1, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, UBA5, WWOX, YWHAG

  • 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.

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, SLC12A5, SLC13A5, SLC1A2, SLC25A12, SLC25A22, SLC35A2, SPTAN1, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, UBA5, WWOX, YWHAG
ASSOCIATED TESTS
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