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Trait
Epileptic encephalopathy
A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.
Summary
- Also called
- Convulsive encephalopathy
- Body system
- Abnormality of the nervous system
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url <- "https://dantelabs.com/traits/epileptic-encephalopathy.json"
page <- fromJSON(url)
page$trait$nameEpileptic encephalopathyHP:0200134
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Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Epilepsy (Full Panel)Reads 95 of these genesABATARHGEF9ARV1ARXCACNA1ACADAbout this report →
- Hereditary Episodic AtaxiasReads 3 of these genesCACNA1ASCN2AKCNA1About this report →
- Familial Hemiplegic MigraineReads 2 of these genesCACNA1ASCN1AAbout this report →
- Congenital Disorders of GlycosylationReads 10 of these genesCADDHDDSNUS1PIGASLC35A2ST3GAL3About this report →
Show 32 more reports
- Christianson SyndromeReads 1 of these genesSLC9A6About this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- Glutaminase DeficiencyReads 1 of these genesGLSAbout this report →
- KCNQ2-Related Neonatal Encephalopathy with Non-Epileptic MyoclonusReads 1 of these genesKCNQ2About this report →
- Kohlschütter-Tönz SyndromeReads 1 of these genesROGDIAbout this report →
- Schizophrenia PanelReads 1 of these genesNRXN1About this report →
- TRIM8-Related Neurodevelopmental and Kidney DisorderReads 1 of these genesTRIM8About this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- Intellectual DisabilityReads 15 of these genesARHGEF9CLCN4GRIN1NUS1SCN2AST3GAL3About this report →
- DOORS SyndromeReads 1 of these genesTBC1D24About this report →
- GPI Anchor Biosynthesis DefectsReads 3 of these genesPIGAPIGPPIGQAbout this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 2 of these genesCACNA1ACACNA1BAbout this report →
- Lissencephaly Spectrum DisordersReads 3 of these genesARXPAFAH1B1DCXAbout this report →
- Primary Mitochondrial DiseaseReads 5 of these genesCARS2TRIT1COQ4CRLS1TWNKAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 3 of these genesWWOXPNKPTWNKAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesPNKPSLC2A1About this report →
- Inherited Neurodegenerative DisordersReads 6 of these genesCACNA1AWWOXPNKPAARS1SPTAN1TWNKAbout this report →
- Polycystic Kidney DiseaseReads 1 of these genesALG9About this report →
- Rare Hereditary Peripheral NeuropathiesReads 4 of these genesPNKPCOQ4AARS1SPTAN1About this report →
- Parkinson DiseaseReads 1 of these genesSYNJ1About this report →
- Cutis LaxaReads 1 of these genesATP6V1AAbout this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesAARS1SPTAN1About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesTRA2BAbout this report →
- Congenital Myasthenic SyndromeReads 1 of these genesDPAGT1About this report →
- Spinal Muscular AtrophyReads 1 of these genesSPTAN1About this report →
- Congenital Muscular DystrophiesReads 1 of these genesDPM2About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesCACNA1AAbout this report →
- Female InfertilityReads 1 of these genesTWNKAbout this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesSPTAN1About this report →
- Other Inherited LeukodystrophiesReads 1 of these genesAARS1About this report →
- Retinitis PigmentosaReads 1 of these genesDHDDSAbout this report →
- Hearing Loss and DeafnessReads 1 of these genesTBC1D24About this report →
Read the genes linked to Epileptic encephalopathy, and the rest of your genome, with one test.
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Get my Genome Test134 genes linked to Epileptic encephalopathy
Changes in these genes cause rare conditions in which Epileptic encephalopathy is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ABAT4-aminobutyrate aminotransferase | Always | In 1 condition |
| ARHGEF9Cdc42 guanine nucleotide exchange factor 9 | Always | In 2 conditions |
| ARV1ARV1 fatty acid homeostasis modulator | Always | In 1 condition |
| ARXaristaless related homeobox | Always | In 2 conditions |
| BOLA3bolA family member 3 | Always | In 2 conditions |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Always | In 1 condition |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Always | In 1 condition |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Always | In 1 condition |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Always | In 2 conditions |
| CHKAcholine kinase alpha | Always | In 1 condition |
| CLCN4Cl-/H+ antiporter 4 | Always | In 1 condition |
| CPLX1complexin 1 | Always | In 1 condition |
| DENND5ADENN domain containing 5A | Always | In 1 condition |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Always | In 1 condition |
| DNM1dynamin 1 | Always | In 1 condition |
| DOCK7dedicator of cytokinesis 7 | Always | In 1 condition |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Always | In 1 condition |
| FGF12fibroblast growth factor 12 | Always | In 1 condition |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Always | In 1 condition |
| GABRB1gamma-aminobutyric acid type A receptor subunit beta1 | Always | In 1 condition |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Always | In 1 condition |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Always | In 1 condition |
| GLSglutaminase | Always | In 1 condition |
| GLULglutamate-ammonia ligase | Always | In 1 condition |
| GNAO1G protein subunit alpha o1 | Always | In 3 conditions |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Always | In 3 conditions |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Always | In 1 condition |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Always | In 1 condition |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Always | In 1 condition |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Always | In 2 conditions |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Always | In 1 condition |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Always | In 1 condition |
| MAST3microtubule associated serine/threonine kinase 3 | Always | In 1 condition |
| MSL2MSL complex subunit 2 | Always | In 1 condition |
| NAPBNSF attachment protein beta | Always | In 1 condition |
| NECAP1NECAP endocytosis associated 1 | Always | In 1 condition |
| NSFN-ethylmaleimide sensitive factor, vesicle fusing ATPase | Always | In 1 condition |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 1 condition |
| PLCB1phospholipase C beta 1 | Always | In 1 condition |
Show 94 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| POLR1ARNA polymerase I subunit A | Always | In 1 condition |
| RNU2-2RNA, U2 small nuclear 2 | Always | In 1 condition |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Always | In 2 conditions |
| SLC13A5solute carrier family 13 member 5 | Always | In 1 condition |
| SLC1A2solute carrier family 1 member 2 | Always | In 1 condition |
| SLC25A22solute carrier family 25 member 22 | Always | In 2 conditions |
| SLC35A2solute carrier family 35 member A2 | Always | In 1 condition |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Always | In 1 condition |
| SYNJ1synaptojanin 1 | Always | In 1 condition |
| TBC1D24TBC1 domain family member 24 | Always | In 2 conditions |
| TRIT1tRNA isopentenyltransferase 1 | Always | In 1 condition |
| UBA5ubiquitin like modifier activating enzyme 5 | Always | In 1 condition |
| WWOXWW domain containing oxidoreductase | Always | In 1 condition |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Very often (80–99%) | In 2 conditions |
| CASKcalcium/calmodulin dependent serine protein kinase | Very often (80–99%) | In 2 conditions |
| CDKL5cyclin dependent kinase like 5 | Very often (80–99%) | In 2 conditions |
| DMXL2Dmx like 2 | Very often (80–99%) | In 1 condition |
| GRM7glutamate metabotropic receptor 7 | Very often (80–99%) | In 1 condition |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Very often (80–99%) | In 1 condition |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Very often (80–99%) | In 1 condition |
| LGI1leucine rich glioma inactivated 1 | Very often (80–99%) | In 1 condition |
| NEUROD2neuronal differentiation 2 | Very often (80–99%) | In 2 conditions |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Very often (80–99%) | In 2 conditions |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Very often (80–99%) | In 1 condition |
| PNKPpolynucleotide kinase 3'-phosphatase | Very often (80–99%) | In 1 condition |
| PNPOpyridoxamine 5'-phosphate oxidase | Very often (80–99%) | In 1 condition |
| RHOBTB2Rho related BTB domain containing 2 | Very often (80–99%) | In 1 condition |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Very often (80–99%) | In 2 conditions |
| SIK1salt inducible kinase 1 | Very often (80–99%) | In 2 conditions |
| SLC32A1solute carrier family 32 member 1 | Very often (80–99%) | In 1 condition |
| TRIM8tripartite motif containing 8 | Very often (80–99%) | In 1 condition |
| UGDHUDP-glucose 6-dehydrogenase | Very often (80–99%) | In 1 condition |
| AFF3ALF transcription elongation factor 3 | Often (30–79%) | In 1 condition |
| ATP6V1AATPase H+ transporting V1 subunit A | Often (30–79%) | In 1 condition |
| CELF2CUGBP Elav-like family member 2 | Often (30–79%) | In 1 condition |
| COQ4coenzyme Q4 | Often (30–79%) | In 1 condition |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Often (30–79%) | In 1 condition |
| FCSKfucose kinase | Often (30–79%) | In 1 condition |
| NRXN1neurexin 1 | Often (30–79%) | In 1 condition |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Often (30–79%) | In 1 condition |
| PMPCBpeptidase, mitochondrial processing subunit beta | Often (30–79%) | In 1 condition |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Often (30–79%) | In 1 condition |
| RNF13ring finger protein 13 | Often (30–79%) | In 2 conditions |
| SLC25A12solute carrier family 25 member 12 | Often (30–79%) | In 1 condition |
| SLC38A3solute carrier family 38 member 3 | Often (30–79%) | In 1 condition |
| ZNF668zinc finger protein 668 | Often (30–79%) | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| CRLS1cardiolipin synthase 1 | Sometimes (5–29%) | In 1 condition |
| DCXdoublecortin | Sometimes (5–29%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sometimes (5–29%) | In 1 condition |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Sometimes (5–29%) | In 1 condition |
| KCNQ5potassium voltage-gated channel subfamily Q member 5 | Sometimes (5–29%) | In 1 condition |
| MEF2Cmyocyte enhancer factor 2C | Sometimes (5–29%) | In 1 condition |
| SLC9A6solute carrier family 9 member A6 | Sometimes (5–29%) | In 1 condition |
| STAG1STAG1 cohesin complex component | Sometimes (5–29%) | In 1 condition |
| STXBP1syntaxin binding protein 1 | Sometimes (5–29%) | In 2 conditions |
| TRA2Btransformer 2 beta homolog | Sometimes (5–29%) | In 1 condition |
| UNC13Aunc-13 homolog A | Sometimes (5–29%) | In 1 condition |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Rarely (1–4%) | In 1 condition |
| CHD2chromodomain helicase DNA binding protein 2 | Rarely (1–4%) | In 2 conditions |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Rarely (1–4%) | In 1 condition |
| KMT2Elysine methyltransferase 2E (inactive) | Rarely (1–4%) | In 1 condition |
| NEXMIFneurite extension and migration factor | Rarely (1–4%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Rarely (1–4%) | In 2 conditions |
| SLC2A1solute carrier family 2 member 1 | Rarely (1–4%) | In 1 condition |
| SLC6A1solute carrier family 6 member 1 | Rarely (1–4%) | In 1 condition |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Rarely (1–4%) | In 2 conditions |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Rarely (1–4%) | In 1 condition |
| AARS1alanyl-tRNA synthetase 1 | Not recorded | In 1 condition |
| ADAM22ADAM metallopeptidase domain 22 | Not recorded | In 1 condition |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Not recorded | In 1 condition |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Not recorded | In 1 condition |
| CUX2cut like homeobox 2 | Not recorded | In 1 condition |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Not recorded | In 1 condition |
| FRRS1Lferric chelate reductase 1 like | Not recorded | In 1 condition |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Not recorded | In 1 condition |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Not recorded | In 1 condition |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Not recorded | In 1 condition |
| GUF1GTP binding elongation factor GUF1 | Not recorded | In 1 condition |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Not recorded | In 1 condition |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Not recorded | In 1 condition |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Not recorded | In 1 condition |
| MDH1malate dehydrogenase 1 | Not recorded | In 1 condition |
| MDH2malate dehydrogenase 2 | Not recorded | In 1 condition |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Not recorded | In 1 condition |
| PACS2phosphofurin acidic cluster sorting protein 2 | Not recorded | In 1 condition |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| PHACTR1phosphatase and actin regulator 1 | Not recorded | In 1 condition |
| ROGDIrogdi atypical leucine zipper | Not recorded | In 1 condition |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Not recorded | In 1 condition |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Not recorded | In 1 condition |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Not recorded | In 1 condition |
| SZT2SZT2 subunit of KICSTOR complex | Not recorded | In 1 condition |
| TWNKtwinkle mtDNA helicase | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.19-9814e911.
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