GenTIGSA Gene Database on Rare Genetic Disorders
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Early Infantile Epileptic Encephalopathy With Suppression Bursts  
Disease Aliases (25)

Dee10

Developmental and epileptic encephalopathy 10

Developmental and epileptic encephalopathy

Eiee

Eiee with burst-suppression

Eiee10

Epileptic encephalopathy, early infantile, 10

Early infantile epileptic encephalopathy with burst-suppression

Early infantile epileptic encephalopathy with suppression bursts

Early infantile epileptic encephalopathy with suppression-bursts

Early infantile epileptic encephalopathy-10

Mcsz

Microcephaly - seizures - developmental delay

Microcephaly, seizures and developmental delay

Microcephaly, seizures, and developmental delay

Os

Ohtahara syndrome

Early infantile epileptic encephalopathy 10

Epileptic encephalopathy, early infantile

Epileptic encephalopathy, early infantile, 15

Epileptic encephalopathy, infantile

Infantile spasm

Microcephaly, seizures, and developmental delay; mcsz

Associated Genes (17)
 

NCBI-RefSeq:  PIGP   (Phosphatidylinositol glycan anchor biosynthesis class P)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  TRIM8   (Tripartite motif containing 8)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SIK1   (Salt inducible kinase 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  GRM7   (Glutamate metabotropic receptor 7)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  KCNA1   (Potassium voltage-gated channel subfamily A member 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  NEUROD2   (Neuronal differentiation 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  PNKP   (Polynucleotide kinase 3'-phosphatase)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  GRIN1   (Glutamate ionotropic receptor NMDA type subunit 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SLC25A22   (Solute carrier family 25 member 22)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  DMXL2   (Dmx like 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  ARX   (Aristaless related homeobox)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SCN2A   (Sodium voltage-gated channel alpha subunit 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SCN1B   (Sodium voltage-gated channel beta subunit 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CDKL5   (Cyclin dependent kinase like 5)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  PIGQ   (Phosphatidylinositol glycan anchor biosynthesis class Q)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CASK   (Calcium/calmodulin dependent serine protein kinase)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  GNAO1   (G protein subunit alpha o1)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Early infantile epileptic encephalopathy with suppression bursts OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations