Rare disease: Early infantile epileptic encephalopathy (Orphanet code 1934)
Associated genes:
Name: Dmx like 2
Symbol: DMXL2
Synonyms: lang: en
text: DFNA71
lang: en
text: KIAA0856
lang: en
text: RC3
lang: en
text: rabconnectin 3
GeneType: Name: gene with protein product
Name: glutamate ionotropic receptor NMDA type subunit 1
Symbol: GRIN1
Synonyms: lang: en
text: GluN1
lang: en
text: NR1
GeneType: Name: gene with protein product
Name: solute carrier family 32 member 1
Symbol: SLC32A1
Synonyms: lang: en
text: VGAT
lang: en
text: bA122O1.1
GeneType: Name: gene with protein product
Name: neuronal differentiation 2
Symbol: NEUROD2
Synonyms: lang: en
text: NDRF
lang: en
text: NeuroD-related factor
lang: en
text: bHLHa1
GeneType: Name: gene with protein product
Name: glutamate metabotropic receptor 7
Symbol: GRM7
Synonyms: lang: en
text: GLUR7
lang: en
text: GPRC1G
lang: en
text: MGLUR7
lang: en
text: PPP1R87
lang: en
text: mGlu7
lang: en
text: protein phosphatase 1, regulatory subunit 87
GeneType: Name: gene with protein product
Name: calcium/calmodulin dependent serine protein kinase
Symbol: CASK
Synonyms: lang: en
text: CAGH39
lang: en
text: FGS4
lang: en
text: LIN2
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 2
Symbol: SCN2A
Synonyms: lang: en
text: HBSCI
lang: en
text: HBSCII
lang: en
text: Nav1.2
GeneType: Name: gene with protein product
Name: cyclin dependent kinase like 5
Symbol: CDKL5
Synonyms: lang: en
text: CFAP247
lang: en
text: EIEE2
GeneType: Name: gene with protein product
Name: aristaless related homeobox
Symbol: ARX
Synonyms: lang: en
text: CT121
lang: en
text: EIEE1
lang: en
text: ISSX
lang: en
text: cancer/testis antigen 121
GeneType: Name: gene with protein product
Name: polynucleotide kinase 3'-phosphatase
Symbol: PNKP
Synonyms: lang: en
text: PNK
GeneType: Name: gene with protein product
Name: G protein subunit alpha o1
Symbol: GNAO1
Synonyms: lang: en
text: G-ALPHA-o
GeneType: Name: gene with protein product
Name: phosphatidylinositol glycan anchor biosynthesis class Q
Symbol: PIGQ
Synonyms: lang: en
text: GPI1
lang: en
text: Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q
lang: en
text: hGPI1
GeneType: Name: gene with protein product
Name: salt inducible kinase 1
Symbol: SIK1
Synonyms: lang: en
text: msk
lang: en
text: myocardial SNF1-like kinase
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel beta subunit 1
Symbol: SCN1B
GeneType: Name: gene with protein product
Name: solute carrier family 25 member 22
Symbol: SLC25A22
Synonyms: lang: en
text: EIEE3
lang: en
text: Early infantile epileptic encephalopathy 3
lang: en
text: FLJ13044
lang: en
text: GC-1
lang: en
text: GC1
lang: en
text: NET44
GeneType: Name: gene with protein product
Name: potassium voltage-gated channel subfamily A member 1
Symbol: KCNA1
Synonyms: lang: en
text: HUK1
lang: en
text: Kv1.1
lang: en
text: MBK1
lang: en
text: RBK1
GeneType: Name: gene with protein product
Name: tripartite motif containing 8
Symbol: TRIM8
Synonyms: lang: en
text: E3 ubiquitin-protein ligase TRIM8
lang: en
text: GERP
lang: en
text: glioblastoma expressed ring finger protein
GeneType: Name: gene with protein product
Name: phosphatidylinositol glycan anchor biosynthesis class P
Symbol: PIGP
Synonyms: lang: en
text: DCRC
lang: en
text: DSRC
lang: en
text: phosphatidylinositol-n-acetylglucosaminyltranferase subunit P
GeneType: Name: gene with protein product