Rare disease: Non-specific early-onset epileptic encephalopathy (Orphanet code 442835)
Associated genes:
Name: actin like 6B
Symbol: ACTL6B
Synonyms: lang: en
text: BAF53B
lang: en
text: SMARCN2
GeneType: Name: gene with protein product
Name: gamma-aminobutyric acid type A receptor subunit gamma2
Symbol: GABRG2
Synonyms: lang: en
text: GABA(A) receptor, gamma 2
GeneType: Name: gene with protein product
Name: gamma-aminobutyric acid type A receptor subunit alpha2
Symbol: GABRA2
Synonyms: lang: en
text: GABA(A) receptor, alpha 2
GeneType: Name: gene with protein product
Name: fizzy and cell division cycle 20 related 1
Symbol: FZR1
Synonyms: lang: en
text: CDC20 homolog 1
lang: en
text: CDC20C
lang: en
text: CDH1
lang: en
text: FZR
lang: en
text: FZR2
lang: en
text: HCDH
lang: en
text: HCDH1
lang: en
text: KIAA1242
GeneType: Name: gene with protein product
Name: gamma-aminobutyric acid type A receptor subunit alpha5
Symbol: GABRA5
Synonyms: lang: en
text: GABA(A) receptor, alpha 5
GeneType: Name: gene with protein product
Name: phosphofurin acidic cluster sorting protein 2
Symbol: PACS2
Synonyms: lang: en
text: KIAA0602
GeneType: Name: gene with protein product
Name: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma
Symbol: YWHAG
Synonyms: lang: en
text: 14-3-3 gamma
lang: en
text: 14-3-3?
lang: en
text: 14-3-3GAMMA
lang: en
text: PPP1R170
lang: en
text: protein phosphatase 1, regulatory subunit 170
GeneType: Name: gene with protein product
Name: ubiquitin like modifier activating enzyme 5
Symbol: UBA5
Synonyms: lang: en
text: FLJ23251
lang: en
text: UBA5, ubiquitin-activating enzyme E1 homolog (yeast)
GeneType: Name: gene with protein product
Name: glutamate ionotropic receptor NMDA type subunit 2D
Symbol: GRIN2D
Synonyms: lang: en
text: EB11
lang: en
text: GluN2D
lang: en
text: N-methyl-d-aspartate receptor subunit 2D
lang: en
text: NR2D
GeneType: Name: gene with protein product
Name: DALR anticodon binding domain containing 3
Symbol: DALRD3
Synonyms: lang: en
text: FLJ10496
GeneType: Name: gene with protein product
Name: trafficking kinesin protein 1
Symbol: TRAK1
Synonyms: lang: en
text: KIAA1042
lang: en
text: MILT1
lang: en
text: O-linked N-acetylglucosamine transferase interacting protein 106
lang: en
text: OGT(O Glc NAc transferase) interacting protein 106 KDa
lang: en
text: OIP106
lang: en
text: milton homolog 1 (Drosophila)
GeneType: Name: gene with protein product
Name: solute carrier family 1 member 2
Symbol: SLC1A2
Synonyms: lang: en
text: EAAT2
lang: en
text: Excitatory amino acid transporter 2
lang: en
text: GLT-1
lang: en
text: GLT1
lang: en
text: HBGT
lang: en
text: glutamate transporter-1
lang: en
text: human brain glutamate transporter
GeneType: Name: gene with protein product
Name: adaptor related protein complex 3 subunit beta 2
Symbol: AP3B2
Synonyms: lang: en
text: NAPTB
GeneType: Name: gene with protein product
Name: ATPase H+ transporting V1 subunit A
Symbol: ATP6V1A
Synonyms: lang: en
text: V-ATPase subunit A
lang: en
text: V-type proton ATPase (V-ATPase) catalytic subunit A
lang: en
text: VA68
lang: en
text: Vma1
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 3
Symbol: SCN3A
Synonyms: lang: en
text: Nav1.3
GeneType: Name: gene with protein product
Name: gamma-aminobutyric acid type A receptor subunit beta2
Symbol: GABRB2
Synonyms: lang: en
text: GABA(A) receptor, beta 2
GeneType: Name: gene with protein product
Name: clathrin heavy chain
Symbol: CLTC
Synonyms: lang: en
text: Hc
GeneType: Name: gene with protein product
Name: NUS1 dehydrodolichyl diphosphate synthase subunit
Symbol: NUS1
Synonyms: lang: en
text: MGC7199
lang: en
text: NgBR
lang: en
text: Nogo-B receptor
lang: en
text: TANGO14
lang: en
text: transport and golgi organization 14 homolog (Drosophila)
GeneType: Name: gene with protein product
Name: cytoplasmic FMR1 interacting protein 2
Symbol: CYFIP2
Synonyms: lang: en
text: PIR121
lang: en
text: p53 inducible protein
GeneType: Name: gene with protein product
Name: F-box protein 28
Symbol: FBXO28
Synonyms: lang: en
text: CENP-30
lang: en
text: FLJ10766
lang: en
text: Fbx28
lang: en
text: KIAA0483
lang: en
text: centromere protein 30
GeneType: Name: gene with protein product
Name: neurotrophic receptor tyrosine kinase 2
Symbol: NTRK2
Synonyms: lang: en
text: BDNF/NT-3 growth factors receptor
lang: en
text: TRKB
GeneType: Name: gene with protein product
Name: potassium voltage-gated channel subfamily C member 2
Symbol: KCNC2
Synonyms: lang: en
text: Kv3.2
GeneType: Name: gene with protein product
Name: solute carrier family 38 member 3
Symbol: SLC38A3
Synonyms: lang: en
text: G17
lang: en
text: SN1
lang: en
text: SNAT3
lang: en
text: Sodium-coupled neutral amino acid transporter 3
GeneType: Name: gene with protein product
Name: fibroblast growth factor 12
Symbol: FGF12
Synonyms: lang: en
text: FHF1
lang: en
text: fibroblast growth factor 12B
lang: en
text: fibroblast growth factor FGF-12b
lang: en
text: fibroblast growth factor homologous factor 1
lang: en
text: myocyte-activating factor
GeneType: Name: gene with protein product
Name: SZT2 subunit of KICSTOR complex
Symbol: SZT2
Synonyms: lang: en
text: FLJ10387
lang: en
text: FLJ34502
lang: en
text: KICS1
lang: en
text: RP11-506B15.1
lang: en
text: SZT2A
lang: en
text: SZT2B
lang: en
text: seizure threshold 2 homolog A (mouse)
lang: en
text: seizure threshold 2 homolog B (mouse)
GeneType: Name: gene with protein product
Name: CUGBP Elav-like family member 2
Symbol: CELF2
Synonyms: lang: en
text: BRUNOL3
lang: en
text: Etr-3
lang: en
text: NAPOR-2
GeneType: Name: gene with protein product
Name: dehydrodolichyl diphosphate synthase subunit
Symbol: DHDDS
Synonyms: lang: en
text: DS
lang: en
text: FLJ13102
lang: en
text: HDS
lang: en
text: RP59
lang: en
text: hCIT
GeneType: Name: gene with protein product
Name: protein phosphatase 3 catalytic subunit alpha
Symbol: PPP3CA
Synonyms: lang: en
text: CNA1
lang: en
text: PPP2B
lang: en
text: calcineurin A alpha
lang: en
text: protein phosphatase 2B, catalytic subunit, alpha isoform
GeneType: Name: gene with protein product
Name: synaptojanin 1
Symbol: SYNJ1
Synonyms: lang: en
text: INPP5G
lang: en
text: PARK20
lang: en
text: inositol polyphosphate-5-phosphatase G
lang: en
text: phosphoinositide 5-phosphatase
lang: en
text: synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1
GeneType: Name: gene with protein product
Name: forkhead box G1
Symbol: FOXG1
Synonyms: lang: en
text: BF1
lang: en
text: HBF-3
lang: en
text: HFK1
lang: en
text: HFK2
lang: en
text: HFK3
lang: en
text: QIN
lang: en
text: brain factor 1
GeneType: Name: gene with protein product
Name: synaptic Ras GTPase activating protein 1
Symbol: SYNGAP1
Synonyms: lang: en
text: KIAA1938
lang: en
text: RASA5
lang: en
text: SYNGAP
GeneType: Name: gene with protein product
Name: WW domain containing oxidoreductase
Symbol: WWOX
Synonyms: lang: en
text: FOR
lang: en
text: SDR41C1
lang: en
text: WOX1
lang: en
text: short chain dehydrogenase/reductase family 41C, member 1
GeneType: Name: gene with protein product
Name: alanyl-tRNA synthetase 1
Symbol: AARS1
Synonyms: lang: en
text: AlaRS
lang: en
text: CMT2N
lang: en
text: alanine tRNA ligase 1, cytoplasmic
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 8
Symbol: SCN8A
Synonyms: lang: en
text: CIAT
lang: en
text: CerIII
lang: en
text: NaCh6
lang: en
text: Nav1.6
lang: en
text: PN4
GeneType: Name: gene with protein product
Name: NECAP endocytosis associated 1
Symbol: NECAP1
Synonyms: lang: en
text: DKFZP566B183
lang: en
text: adaptin-ear-binding coat-associated protein 1
GeneType: Name: gene with protein product
Name: hyperpolarization activated cyclic nucleotide gated potassium channel 1
Symbol: HCN1
Synonyms: lang: en
text: BCNG-1
lang: en
text: HAC-2
GeneType: Name: gene with protein product
Name: solute carrier family 13 member 5
Symbol: SLC13A5
Synonyms: lang: en
text: INDY
lang: en
text: NACT
lang: en
text: Na(+)/citrate cotransporter
lang: en
text: mINDY
lang: en
text: mammalian INDY homolog (Drosophila)
GeneType: Name: gene with protein product
Name: potassium voltage-gated channel subfamily B member 1
Symbol: KCNB1
Synonyms: lang: en
text: Kv2.1
GeneType: Name: gene with protein product
Name: dynamin 1
Symbol: DNM1
GeneType: Name: gene with protein product
Name: potassium voltage-gated channel subfamily A member 2
Symbol: KCNA2
Synonyms: lang: en
text: HK4
lang: en
text: Kv1.2
GeneType: Name: gene with protein product
Name: potassium voltage-gated channel subfamily A member 2
Symbol: KCNA2
Synonyms: lang: en
text: HK4
lang: en
text: Kv1.2
GeneType: Name: gene with protein product
Name: eukaryotic translation elongation factor 1 alpha 2
Symbol: EEF1A2
Synonyms: lang: en
text: EEF1AL
lang: en
text: HS1
GeneType: Name: gene with protein product
Name: connector enhancer of kinase suppressor of Ras 2
Symbol: CNKSR2
Synonyms: lang: en
text: CNK2
lang: en
text: KIAA0902
lang: en
text: KSR2
GeneType: Name: gene with protein product
Name: prolyl-tRNA synthetase 2, mitochondrial
Symbol: PARS2
Synonyms: lang: en
text: DKFZp727A071
lang: en
text: proline tRNA ligase 2, mitochondrial (putative)
GeneType: Name: gene with protein product
Name: ATPase Na+/K+ transporting subunit alpha 2
Symbol: ATP1A2
Synonyms: lang: en
text: FHM2
lang: en
text: sodium pump subunit alpha-2
lang: en
text: sodium-potassium ATPase catalytic subunit alpha-2
lang: en
text: sodium/potassium-transporting ATPase subunit alpha-2
GeneType: Name: gene with protein product
Name: ATPase Na+/K+ transporting subunit alpha 3
Symbol: ATP1A3
Synonyms: lang: en
text: sodium pump subunit alpha-3
lang: en
text: sodium-potassium ATPase catalytic subunit alpha-3
lang: en
text: sodium/potassium-transporting ATPase subunit alpha-3
GeneType: Name: gene with protein product
Name: gamma-aminobutyric acid type B receptor subunit 2
Symbol: GABBR2
Synonyms: lang: en
text: GABABR2
lang: en
text: GPRC3B
lang: en
text: HG20
GeneType: Name: gene with protein product
Name: calcium voltage-gated channel subunit alpha1 B
Symbol: CACNA1B
Synonyms: lang: en
text: CACNN
lang: en
text: Cav2.2
GeneType: Name: gene with protein product
Name: cyclin dependent kinase 19
Symbol: CDK19
Synonyms: lang: en
text: KIAA1028
lang: en
text: bA346C16.3
GeneType: Name: gene with protein product
Name: calcium voltage-gated channel subunit alpha1 A
Symbol: CACNA1A
Synonyms: lang: en
text: APCA
lang: en
text: Cav2.1
lang: en
text: EA2
lang: en
text: FHM
lang: en
text: HPCA
GeneType: Name: gene with protein product
Name: calcium voltage-gated channel auxiliary subunit alpha2delta 1
Symbol: CACNA2D1
Synonyms: lang: en
text: alpha2delta-1
lang: en
text: lncRNA-N3
GeneType: Name: gene with protein product