EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY (EIEE)

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

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.

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
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