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

How to order

LATEST ARTICLES

We're thrilled to share the results of Medicover Genetics essay competition for high school students as well as the two winning essays. This competit...

Read more

Cystic fibrosis (CF) is a life-threatening, progressive, inherited condition that causes severe damage to the body, primarily affecting the organs of...

Read more

Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21. It affects physical growth, facial features, and cogni...

Read more

Every year on April 25th, DNA Day celebrates the discovery of DNA’s double helix and the advances we’ve made in understanding genetics. D...

Read more

Neurodevelopmental disorders (NDDs) have diverse genetic origins, making diagnosis challenging. A new study analyzing over 1,100 pediatric patients f...

Read more

Colorectal cancer (CRC) remains one of the most prevalent and deadly cancers worldwide, with a significant number of cases presenting at an advanced ...

Read more

Carrier screening is a genetic test designed to identify whether an individual carries a gene with changes (mutations) associated with inherited diso...

Read more

Trisomy 13, also known as Patau syndrome, is a genetic condition in which cells in the body have three copies of chromosome 13 instead of two. The co...

Read more

The human brain develops through a complex series of events, with genes carefully regulating the formation of neurons and glial cells. A recent study...

Read more

Rare diseases affect between 300 and 400 million people worldwide – more than cancer and AIDS combined [1, 2], but despite this, many people face a...

Read more