Epileptic encephalopathy

Show results for

Unknown (978)
Genomics (65)
Transcriptomics (56)
Proteomics (18)
Genomic (1)
Other (1)
Metabolomics (1)

Organisms

Mus musculus (34)
Homo sapiens (32)
Alphavirus (11)
Anemia (11)
Archaea (11)
Bacteria (11)
Betaherpesvirinae (11)
Borrelia (11)
Clostridium perfringens (11)
Cytomegalovirus (11)
Dengue virus (11)
Eukaryota (11)
Hepatitis B virus (11)
Human alphaherpesvirus 1 (11)
Human betaherpesvirus 5 (11)
Human immunodeficiency virus (11)
Influenza A virus (11)
Influenza C virus (11)
Japanese encephalitis virus group (11)
Kamptonema sp. (11)
Listeria monocytogenes (11)
Mammarenavirus (11)
Miscanthus x giganteus (11)
Mycobacterium tuberculosis (11)
Danio rerio (5)
Rattus norvegicus (3)
synthetic construct (2)
Nicotiana tabacum (1)
Xenopus laevis (1)
Saccharomyces cerevisiae (1)

Organisms

Mus musculus (20)
Homo sapiens (14)
Danio rerio (2)
Xenopus laevis (1)
Rattus norvegicus (1)
Saccharomyces cerevisiae (1)

Repository

ENA (49)
geo (33)
biostudies-arrayexpress (28)
EGA (11)
pride (11)
jPOST (3)
MassIVE (3)
dbGaP (1)
EVA (1)
iProX (1)
MetaboLights (1)

Tissue

Brain (3)
Cell suspension culture (1)
Cerebrospinal fluid (1)
Cilium (1)
Fibroblast (1)
Kidney cell (1)
Primary cell (1)
Skin (1)

Disease

Epilepsy (2)
Developmental and epileptic encephalopathy 1 (1)
Developmental and epileptic encephalopathy 2 (1)
Developmental and epileptic encephalopathy 9 (1)
Early infantile epileptic encephalopathy (1)
Lissencephaly (1)
Neurodevelopmental abnormality (1)

Technology Type

Mass Spectrometry (11)
Shotgun proteomics (4)
Bottom-up proteomics (3)
Illumina HiSeq 2000 (2)
Data-dependent acquisition (2)
SWATH MS (2)
Illumina Genome Analyzer II, Illumina HiSeq 2000 (1)
Mass spectrometry (1)
Affinity purification coupled with mass spectrometry proteomics (1)
Chemical cross-linking coupled with mass spectrometry proteomics (1)
Data-independent acquisition (1)

Instrument Platform

Orbitrap Fusion Lumos (3)
Illumina MiSeq (1)
NextSeq 550 (1)
Illumina HiSeq 2000 (1)
NextSeq 500 (1)
BGISEQ-500 (1)
Liquid Chromatography MS - positive - reverse phase (1)
Liquid Chromatography MS - negative - reverse phase (1)

Publication Date

2026 (13)
2025 (12)
2024 (10)
2023 (7)
2022 (5)
2011 (5)
2015 (4)
2013 (4)
2021 (4)
2007 (3)
2019 (3)
2014 (2)
2008 (2)
2020 (2)
2016 (1)
2012 (1)
2010 (1)
2009 (1)
2018 (1)

Metabolite Name

2-(2,5-dihydroxy-4-methoxyphenyl)-3,5,6,7-tetrahydroxy-3,4-dihydro-2H-1-benzopyran-4-one; 3-(2,5-dihydroxy-4-methoxyphenyl)-1-(2,3,4,6-tetrahydroxyphenyl)propane-1,2-dione; 3,5,7-trihydroxy-6-methoxy-2-(3,4,5-trihydroxyphenyl)-3,4-dihydro-2H-1-benzopyran-4-one; 3,5,7-trihydroxy-6-methoxy-2-(2,3,4-trihydroxyphenyl)-3,4-dihydro-2H-1-benzopyran-4-one; 3,5,7-trihydroxy-6-methoxy-2-(2,4,5-trihydroxyphenyl)-3,4-dihydro-2H-1-benzopyran-4-one; (1)
N-acetyl-L-2-aminoadipate(2-); (1)
VI2Fuc-nLc6; (1)
3',5'-Diiodo-L-thyronine 4'-O-sulfate; (1)
TG(22:1(13Z)/19:2n6/22:6(4Z,7Z,10Z,13Z,16Z,19Z)); (1)
TG(15:0/22:2(13Z,16Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z)); TG(15:0/22:4(7Z,10Z,13Z,16Z)/22:4(7Z,10Z,13Z,16Z)); TG(15:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z)/22:2(13Z,16Z)); TG(22:2(13Z,16Z)/15:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z)); TG(22:4(7Z,10Z,13Z,16Z)/15:0/22:4(7Z,10Z,13Z,16Z)); (1)
TG(14:0/15:0/24:0); TG(14:0/24:0/15:0); TG(15:0/14:0/24:0); TG(15:0/16:0/22:0); TG(15:0/18:0/20:0); (1)
Shoyuflavone C; (1)
4-Hydroxycinnamoylagmatine; (1)
Tipranavir; (1)
N-Acetyltryptophan; Methylphenobarbital; Nigellicine; cyclic 6-Hydroxymelatonin; (1)
Sialyllacto-N-tetraose a; Sialyllacto-N-neotetraose c; Sialyllacto-N-tetraose b; LS tetrasaccharide d; Sialyllacto-N-tetraose c; (1)
Ganglioside GD3 (d18:1/12:0); (1)
L-Tryptophan; D-Tryptophan; 3-Hydroxymethylantipyrine; Ethotoin; (Â±)-Tryptophan; (1)
Vinylacetylglycine; Trimethadione; 5-ethyl-5-methyl-2,4-oxazolidinedione; 6-Oxopiperidine-2-carboxylic acid; (1)
Glutamyltryptophan; Tryptophyl-Glutamate; gamma-Glutamyltryptophan; (1)
Norlaudanosoline; Pipermethystine; noroxymorphone; (1)
Ethyl 2-mercaptopropionate; Methyl 3-mercaptobutanoate; Methyl 3-(methylthio)propanoate; Ethyl 2-(methylthio)acetate; Ethyl 3-mercaptopropanoic acid; (1)
Olmesartan; (1)
De-O-methylsterigmatocystin; Aurantricholide B; {3-[2-(3,5-dihydroxyphenyl)ethyl]phenyl}oxidanesulfonic acid; Dihydroresveratrol 3-sulfate; Dihydroresveratrol 4'-sulfate; (1)
1-Isothiocyanato-8-(methylthio)octane; (1)
PA(22:6(4Z,7Z,10Z,13Z,16Z,19Z)/24:1(15Z)); PA(24:1(15Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z)); (1)
Zizybeoside I; Armillaricin; Benzyl gentiobioside; 15beta-hydroxycyproterone acetate; (1)
6,8-bis[2-(3,4-dihydroxyphenyl)-3,7-dihydroxy-3,4-dihydro-2H-1-benzopyran-4-yl]-2-(3-hydroxyphenyl)-3,4-dihydro-2H-1-benzopyran-3,5,7-triol; 8-[3,7-dihydroxy-2-(3-hydroxyphenyl)-3,4-dihydro-2H-1-benzopyran-4-yl]-2-(3,4-dihydroxyphenyl)-6-[2-(3,4-dihydroxyphenyl)-3,7-dihydroxy-3,4-dihydro-2H-1-benzopyran-4-yl]-3,4-dihydro-2H-1-benzopyran-3,5,7-triol; 6-[3,7-dihydroxy-2-(3-hydroxyphenyl)-3,4-dihydro-2H-1-benzopyran-4-yl]-2-(3,4-dihydroxyphenyl)-8-[2-(3,4-dihydroxyphenyl)-3,7-dihydroxy-3,4-dihydro-2H-1-benzopyran-4-yl]-3,4-dihydro-2H-1-benzopyran-3,5,7-triol; (1)
Simmondsin 2'-ferulate; Astin I; 4-Hydroxytamoxifen-N-glucuronide; 6-{[1-(2-{[3-(3,4-dimethoxyphenyl)-1-hydroxypropylidene]amino}ethyl)-3-methoxy-4-oxocyclohexa-2,5-dien-1-yl]oxy}-3,4,5-trihydroxyoxane-2-carboxylic acid; 6-{[1-(2-{[2-(3,4-dimethoxyphenyl)ethyl]-C-hydroxycarbonimidoyl}ethyl)-3-methoxy-4-oxocyclohexa-2,5-dien-1-yl]oxy}-3,4,5-trihydroxyoxane-2-carboxylic acid; (1)
Indolelactic acid; 5-Methoxyindoleacetate; Cinnamoylglycine; Edulitine; Methyl 1-methoxy-1H-indole-3-carboxylate; (1)
P-Cresol glucuronide; 2-O-Benzoyl-D-glucose; D-Vacciniin; (1)
(Â±)-Ribaline; 5-Amino-6-(4-hydroxy-2-butenoyl)-2,2-dimethyl-4-chromanone; (1)
CD 1790; (1)
Tetraphyllin B; (1)

First Public Date

2026 (11)
2025 (8)
2024 (7)
2023 (6)
2021 (5)
2019 (5)
2020 (3)
2022 (1)
2018 (1)
2017 (1)
2013 (1)

Study type

Transcription profiling by array (20)
RNA-seq of coding RNA (3)
DNA-seq (2)
Unknown experiment type (1)
Comparative genomic hybridization by array (1)
ChIP-seq (1)

Release Date

2022 (131)
2021 (122)
2023 (112)
2025 (103)
2024 (101)
2019 (80)
2020 (79)
2018 (58)
2017 (56)
2015 (44)
2016 (36)
2014 (24)
2026 (17)
2013 (11)
2011 (10)
2012 (6)
2009 (5)
2007 (5)
2010 (4)
2008 (2)

Lab affiliation

Biosciences Institute, Newcastle University, Newcastle, UK (1)
Deparetmento de Bioquímica, Instituto de Química, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil. (1)
Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, 30 Flemington Road, Parkville, Victoria 3052 Australia (1)
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy (1)
Department of Neurology School of Medicine Oregon Health & Science University Portland, OR, USA (1)
Div. Cell Biology, Biocenter, Medical University Innsbruck, Austria (1)
Dr Goran Stjepanovic, Kobilka Institute of Innovative Drug Discovery, School of Medicine, The Chinese University of Hong Kong, Shenzhen, Shenzhen 518172, China. (1)
Head of Proteomics (1)
Program in Molecular Medicine UMass Chan Medical School Worcester MA 01605 USA (1)
Proteomics & Metabolomics Facility, University of Connecticut (1)
University of Melbourne, Melbourne, Australia (1)

Previous page
1 / 112
You're on page 1
page 2
page 3
page 4
page 5
page ...
page 112
Next page

Sort by:

Relevance

Page size

Reversal of cell, circuit and seizure phenotypes in a mouse model of DNM1 epileptic encephalopathy

Pathogenic heterozygous missense mutations in the DNM1 gene result in a novel form of epileptic encephalopathy. DNM1 encodes for the large GTPase dynamin-1, an enzyme with an obligatory role in the endocytosis of synaptic vesicles (SVs) at mammalian nerve terminals. Pathogenic DNM1 mutations cluster...

ORGANISM(S): Mus musculus (Mouse)

2023-08-14 | PXD039667 | Pride

Mislocalization of KCNQ2 Channels as a Pathogenic Mechanism in KCNQ2 Developmental and Epileptic Encephalopathy

KCNQ2 potassium channel variants are linked to developmental and epileptic encephalopathy (DEE). However, the mechanisms by which pathogenic variants, especially those outside known hotspots, such as the S4–S5 linker, lead to disease remain unknown. Here, we examined the H228R variant, a pathogenic ...

ORGANISM(S): Mus musculus (Mouse)

2026-01-12 | PXD069563 | Pride

Channel Epilepsy Development Kcnq2 Encephalopathy Immunoprecipitation

Epileptic Encephalopathy

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

PRJEB4676 | ENA

Expanding the clinical and genetic spectrum of GLUL-related developmental and epileptic encephalopathy

PRJNA1266067 | ENA

Therapeutic Potential of ASO-Mediated KCNT1 Knockdown in KCNT1 Epileptic Encephalopathy

PRJNA1267011 | ENA

Expanding the clinical and genetic spectrum of GLUL-related developmental and epileptic encephalopathy

We presented analyses of the GLUL-related developmental and epileptic encephalopathy with detailed clinical descriptions and identified novel pathogenic variants. Comparative analysis of genotypes and phenotypes revealed the diverse nature of the disease, expanding our knowledge about the genetic an...

ORGANISM(S): Homo sapiens

2025-12-02 | GSE297730 | GEO

Long-term downregulation of SCN8A in mouse models of developmental and epileptic encephalopathy

PRJNA984742 | ENA

De novo KCNB1 mutations in epileptic encephalopathy.

Not available

S-EPMC4192091 | biostudies-literature

Long-term downregulation of SCN8A in mouse models of developmental and epileptic encephalopathy II

PRJNA1071179 | ENA

Autism spectrum disorder and epileptic encephalopathy: common causes, many questions.

Not available

S-EPMC5481888 | biostudies-literature

Previous page
1 / 112
You're on page 1
page 2
page 3
page 4
page 5
page ...
page 112
Next page

Sort by:

Relevance

Page size

1120 Results

Show results for

Organisms

Organisms

Repository

Tissue

Disease

Technology Type

Instrument Platform

Publication Date

Metabolite Name

First Public Date

Study type

Release Date

Lab affiliation

Tags

OmicsDI is part of the ELIXIR infrastructure

Tweets