ANTKMT

gene
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Also known as MGC2494

Summary

ANTKMT (adenine nucleotide translocase lysine methyltransferase, HGNC:14152) is a protein-coding gene on chromosome 16p13.3, encoding Adenine nucleotide translocase lysine N-methyltransferase (Q9BQD7). Mitochondrial protein-lysine N-methyltransferase that trimethylates adenine nucleotide translocases ANT2/SLC25A5 and ANT3/SLC25A6, thereby regulating mitochondrial respiration.

Enables protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine trimethylation. Located in mitochondrion.

Source: NCBI Gene 65990 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 103 total — 17 pathogenic
  • MANE Select transcript: NM_023933

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:14152
Approved symbolANTKMT
Nameadenine nucleotide translocase lysine methyltransferase
Location16p13.3
Locus typegene with protein product
StatusApproved
AliasesMGC2494
Ensembl geneENSG00000103254
Ensembl biotypeprotein_coding
OMIM618566
Entrez65990

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 7 protein_coding, 4 retained_intron

ENST00000219535, ENST00000564000, ENST00000564640, ENST00000566437, ENST00000566525, ENST00000568916, ENST00000569529, ENST00000570237, ENST00000853259, ENST00000853260, ENST00000853261

RefSeq mRNA: 2 — MANE Select: NM_023933 NM_001271285, NM_023933

CCDS: CCDS10423, CCDS59254

Canonical transcript exons

ENST00000569529 — 5 exons

ExonStartEnd
ENSE00000664194722084722134
ENSE00000664195721801721941
ENSE00002611837721146721436
ENSE00003471140722309722590
ENSE00003680095721598721702

Expression profiles

Bgee: expression breadth ubiquitous, 243 present calls, max score 94.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.5084 / max 139.3693, expressed in 1803 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter IDTPM avgSamples expressed
15198311.71781795
1519851.1189329
1519840.5788233
1519860.5338186
1519820.4840213
1519870.051510
1519880.02378

Top tissues by expression

270 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
anterior cingulate cortexUBERON:000983594.30gold quality
cingulate cortexUBERON:000302794.22gold quality
mucosa of transverse colonUBERON:000499193.85gold quality
right testisUBERON:000453493.65gold quality
right frontal lobeUBERON:000281093.60gold quality
left testisUBERON:000453393.59gold quality
amygdalaUBERON:000187693.47gold quality
apex of heartUBERON:000209893.13gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047392.97gold quality
Brodmann (1909) area 9UBERON:001354092.86gold quality
prefrontal cortexUBERON:000045192.43gold quality
adenohypophysisUBERON:000219692.23gold quality
dorsolateral prefrontal cortexUBERON:000983492.14gold quality
testisUBERON:000047391.12gold quality
pituitary glandUBERON:000000790.99gold quality
C1 segment of cervical spinal cordUBERON:000646990.76gold quality
neocortexUBERON:000195090.70gold quality
frontal cortexUBERON:000187090.40gold quality
granulocyteCL:000009490.39gold quality
right lobe of liverUBERON:000111490.13gold quality
right hemisphere of cerebellumUBERON:001489089.90gold quality
hindlimb stylopod muscleUBERON:000425289.75gold quality
metanephros cortexUBERON:001053389.55gold quality
cerebral cortexUBERON:000095689.33gold quality
spinal cordUBERON:000224089.26gold quality
right adrenal glandUBERON:000123389.06gold quality
right adrenal gland cortexUBERON:003582788.85gold quality
cerebellar hemisphereUBERON:000224588.76gold quality
cerebellar cortexUBERON:000212988.69gold quality
left adrenal glandUBERON:000123488.64gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes8.94

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

  • FAM173A is the long-sought mitochondrial lysine-specific methyltransferase responsible for adenine nucleotide translocase methylation at Lys-52, and point out the functional significance of Lys-52 methylation in adenine nucleotide translocase. (PMID:31213526)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_rerioantkmtENSDARG00000041223
mus_musculusAntkmtENSMUSG00000057411
rattus_norvegicusAntkmtENSRNOG00000019684
drosophila_melanogasterCG3337FBGN0038871
caenorhabditis_elegansWBGENE00012658

Paralogs (1): ATPSCKMT (ENSG00000150756)

Protein

Protein identifiers

Adenine nucleotide translocase lysine N-methyltransferaseQ9BQD7 (reviewed: Q9BQD7)

All UniProt accessions (4): Q9BQD7, H3BPE8, H3BQW1, J3KMW5

UniProt curated annotations — full annotation on UniProt →

Function. Mitochondrial protein-lysine N-methyltransferase that trimethylates adenine nucleotide translocases ANT2/SLC25A5 and ANT3/SLC25A6, thereby regulating mitochondrial respiration. Probably also trimethylates ANT1/SLC25A4.

Subcellular location. Mitochondrion membrane.

Domain organisation. The pre-methyltransferase (preMT) region is responsible for mitochondrial localization.

Similarity. Belongs to the ANT/ATPSC lysine N-methyltransferase family.

RefSeq proteins (2): NP_001258214, NP_076422* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR026170FAM173A/BFamily
IPR029063SAM-dependent_MTases_sfHomologous_superfamily

Catalyzed reactions (Rhea), 1 shown:

  • L-lysyl-[protein] + 3 S-adenosyl-L-methionine = N(6),N(6),N(6)-trimethyl-L-lysyl-[protein] + 3 S-adenosyl-L-homocysteine + 3 H(+) (RHEA:54192)

UniProt features (9 total): region of interest 4, mutagenesis site 3, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9BQD7-F182.010.52

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (3):

PositionPhenotype
1–76abolished mitochondrial localization.
1–42does not affect mitochondrial localization.
105abolished methyltransferase activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 145 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_PEPTIDYL_LYSINE_MODIFICATION, GOBP_ATP_BIOSYNTHETIC_PROCESS, GOBP_OXIDATIVE_PHOSPHORYLATION, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS, GOCC_MITOCHONDRIAL_ENVELOPE, P300_01

GO Biological Process (3): peptidyl-lysine trimethylation (GO:0018023), regulation of mitochondrial ATP synthesis coupled proton transport (GO:1905706), methylation (GO:0032259)

GO Molecular Function (4): protein-lysine N-methyltransferase activity (GO:0016279), protein binding (GO:0005515), methyltransferase activity (GO:0008168), transferase activity (GO:0016740)

GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial membrane (GO:0031966), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
peptidyl-lysine methylation1
proton motive force-driven mitochondrial ATP synthesis1
regulation of ATP biosynthetic process1
metabolic process1
protein methyltransferase activity1
lysine N-methyltransferase activity1
binding1
transferase activity, transferring one-carbon groups1
catalytic activity1
cytoplasm1
intracellular membrane-bounded organelle1
mitochondrion1
mitochondrial envelope1
organelle membrane1
cellular anatomical structure1

Protein interactions and networks

STRING

946 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ANTKMTSLC38A12Q8NE00557
ANTKMTCRAMP1Q96RY5535
ANTKMTTSR3Q9UJK0531
ANTKMTEEF1AKMT1Q8WVE0528
ANTKMTOXLD1Q5BKU9505
ANTKMTMETTL18O95568501
ANTKMTMETTL21AQ8WXB1489
ANTKMTETFBKMTQ8IXQ9469
ANTKMTVCPKMTQ9H867468
ANTKMTPRORPO15091465
ANTKMTEEF2KMTQ96G04464
ANTKMTTMEM242Q9NWH2457
ANTKMTMETTL22Q9BUU2438
ANTKMTMETTL23Q86XA0434
ANTKMTEEF1AKMT2Q5JPI9429

IntAct

59 interactions, top by confidence:

ABTypeScore
CTNNA3ANTKMTpsi-mi:“MI:0915”(physical association)0.560
PPP1R16AANTKMTpsi-mi:“MI:0915”(physical association)0.560
DTX2ANTKMTpsi-mi:“MI:0915”(physical association)0.560
HGSANTKMTpsi-mi:“MI:0915”(physical association)0.560
ANTKMTCTNNA3psi-mi:“MI:0915”(physical association)0.560
ZNF76ANTKMTpsi-mi:“MI:0915”(physical association)0.560
PIK3R3ANTKMTpsi-mi:“MI:0915”(physical association)0.560
BANPANTKMTpsi-mi:“MI:0915”(physical association)0.560
ANTKMTFANCLpsi-mi:“MI:0915”(physical association)0.560
HDAC7ANTKMTpsi-mi:“MI:0915”(physical association)0.560
ANTKMTPARVGpsi-mi:“MI:0915”(physical association)0.560
EFCAB2ANTKMTpsi-mi:“MI:0915”(physical association)0.560
ANTKMTAIRIMpsi-mi:“MI:0915”(physical association)0.560
CCDC24ANTKMTpsi-mi:“MI:0915”(physical association)0.560
MEIS2ANTKMTpsi-mi:“MI:0915”(physical association)0.560
ANTKMTpsi-mi:“MI:0915”(physical association)0.560
MKRN3ANTKMTpsi-mi:“MI:0915”(physical association)0.560
SLC1A2UBXN8psi-mi:“MI:0914”(association)0.350
BANPANTKMTpsi-mi:“MI:0915”(physical association)0.000
FANCLANTKMTpsi-mi:“MI:0915”(physical association)0.000
HDAC7ANTKMTpsi-mi:“MI:0915”(physical association)0.000
PARVGANTKMTpsi-mi:“MI:0915”(physical association)0.000
EFCAB2ANTKMTpsi-mi:“MI:0915”(physical association)0.000

BioGRID (27): FAM173A (Two-hybrid), LUC7L (Two-hybrid), FAM173A (Two-hybrid), FAM173A (Two-hybrid), HAP1 (Two-hybrid), IMMT (Two-hybrid), LUC7L2 (Two-hybrid), PFN2 (Two-hybrid), SH3GL3 (Two-hybrid), TP53 (Two-hybrid), FANCL (Two-hybrid), C1orf109 (Two-hybrid), PIK3R3 (Two-hybrid), MEIS2 (Two-hybrid), PARVG (Two-hybrid)

ESM2 similar proteins: A2AA28, A4FV42, A4FV98, A6NDG6, D3YWP0, D3ZVU9, O15315, O35719, O70277, O75382, O94759, P21964, P57775, P81799, Q2TBS1, Q3UGX3, Q4R3I0, Q5E9V4, Q5H879, Q5RJL2, Q5SUV1, Q6DC64, Q7Z624, Q86WI3, Q86XA0, Q8BNV1, Q8C436, Q8CIW5, Q8IZ69, Q8N8L6, Q8N9F0, Q8VCX6, Q8WXB1, Q96AZ1, Q96FB5, Q96RR1, Q9BQD7, Q9BRQ3, Q9BUU2, Q9CQL0

Diamond homologs: D3ZLY0, Q501J2, Q5I047, Q6P4H8, Q9BQD7, Q9D1Z3, Q9XX11, F0NBH8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

103 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic17
Likely pathogenic0
Uncertain significance67
Likely benign5
Benign6

Top pathogenic / likely-pathogenic (17)

Variant IDHGVSClassification
145576GRCh38/hg38 16p13.3(chr16:46766-1544014)x1Pathogenic
148760GRCh38/hg38 16p13.3(chr16:46722-1867327)x1Pathogenic
148917GRCh38/hg38 16p13.3(chr16:46766-882211)x1Pathogenic
152879GRCh38/hg38 16p13.3(chr16:59980-1221651)x1Pathogenic
1808731GRCh37/hg19 16p13.3(chr16:85881-1350186)x1Pathogenic
2685536GRCh37/hg19 16p13.3(chr16:85881-1657611)x1Pathogenic
3243622NC_000016.9:g.(?256302)(1557737_?)delPathogenic
564251GRCh37/hg19 16p13.3(chr16:85880-1498731)x1Pathogenic
564252GRCh37/hg19 16p13.3(chr16:85880-1875694)x1Pathogenic
59410GRCh38/hg38 16p13.3(chr16:23141-1712523)x1Pathogenic
59411GRCh38/hg38 16p13.3(chr16:46766-1997582)x1Pathogenic
59425GRCh38/hg38 16p13.3(chr16:105429-1499893)x1Pathogenic
655214NC_000016.9:g.(?624055)(2115656_?)delPathogenic
685952GRCh37/hg19 16p13.3(chr16:85880-830613)x1Pathogenic
687431GRCh37/hg19 16p13.3(chr16:85880-1468459)x1Pathogenic
688348GRCh37/hg19 16p13.3(chr16:85880-2053328)x1Pathogenic
815766GRCh37/hg19 16p13.3(chr16:85880-1166355)x1Pathogenic

SpliceAI

435 predictions. Top by Δscore:

VariantEffectΔscore
16:721698:GGATC:Gdonor_gain1.0000
16:721699:GATC:Gdonor_gain1.0000
16:721699:GATCG:Gdonor_gain1.0000
16:721700:ATCGT:Adonor_loss1.0000
16:721701:TC:Tdonor_gain1.0000
16:721701:TCGT:Tdonor_loss1.0000
16:721702:CGT:Cdonor_loss1.0000
16:721703:G:GGdonor_gain1.0000
16:721704:T:Gdonor_loss1.0000
16:721700:A:Tdonor_gain0.9900
16:721700:ATC:Adonor_gain0.9900
16:721705:AA:Adonor_loss0.9900
16:721938:G:GTdonor_gain0.9900
16:721939:A:Tdonor_gain0.9900
16:722307:A:AGacceptor_gain0.9900
16:722308:G:GGacceptor_gain0.9900
16:721795:CCACA:Cacceptor_loss0.9800
16:721798:CAGGT:Cacceptor_loss0.9800
16:721799:AGGTG:Aacceptor_loss0.9800
16:721416:C:Tdonor_gain0.9700
16:721432:TGCAG:Tdonor_loss0.9700
16:721434:CAGG:Cdonor_loss0.9700
16:721435:AG:Adonor_loss0.9700
16:721436:GGTG:Gdonor_loss0.9700
16:721437:GTG:Gdonor_loss0.9700
16:721438:T:Gdonor_loss0.9700
16:721590:C:CAacceptor_gain0.9700
16:722306:CAGC:Cacceptor_loss0.9700
16:722307:AGCT:Aacceptor_loss0.9700
16:722308:G:GAacceptor_loss0.9700

AlphaMissense

1451 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
16:722117:T:CF148L0.995
16:722119:C:AF148L0.995
16:722119:C:GF148L0.995
16:722375:T:CF176L0.995
16:722377:C:AF176L0.995
16:722377:C:GF176L0.995
16:721695:G:TG87V0.991
16:722329:G:CK160N0.990
16:722329:G:TK160N0.990
16:722118:T:CF148S0.983
16:721695:G:AG87D0.981
16:721677:A:GD81G0.978
16:721689:G:TG85V0.978
16:722107:C:AN144K0.978
16:722107:C:GN144K0.978
16:721692:A:TD86V0.977
16:721938:G:CW135C0.976
16:721938:G:TW135C0.976
16:721847:A:TE105V0.974
16:722118:T:GF148C0.974
16:721689:G:AG85D0.973
16:721854:C:AN107K0.972
16:721854:C:GN107K0.972
16:722109:T:AV145E0.972
16:722115:T:AV147E0.972
16:722327:A:GK160E0.971
16:722376:T:CF176S0.971
16:721841:G:AG103D0.970
16:721802:T:AV90E0.968
16:722117:T:AF148I0.968

dbSNP variants (sampled 300 via entrez): RS1000199273 (16:722035 C>A,G,T), RS1001191934 (16:719335 C>G), RS1001274325 (16:721476 C>A,G,T), RS1002276684 (16:720500 G>A,C), RS1003000343 (16:719237 C>G,T), RS1003284900 (16:719529 G>A), RS1003317594 (16:719786 A>C,G), RS1003722728 (16:720246 G>A,T), RS1003936146 (16:720440 C>A,T), RS1005201127 (16:719162 A>G), RS1006431047 (16:721304 G>A,T), RS1007043386 (16:721068 C>A,T), RS1007080844 (16:722239 G>C), RS1007784830 (16:720184 C>T), RS1007808946 (16:721109 A>G)

Disease associations

OMIM: gene MIM:618566 | disease phenotypes: MIM:600669, MIM:617027, MIM:613254

GenCC curated gene-disease

Mondo (4): breast ductal adenocarcinoma (MONDO:0005590), idiopathic generalized epilepsy (MONDO:0005579), hyperaldosteronism, familial, type IV (MONDO:0014875), tuberous sclerosis 2 (MONDO:0013199)

Orphanet (2): Familial hyperaldosteronism type IV (Orphanet:642671), Tuberous sclerosis complex (Orphanet:805)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

DescriptorNameTree numbers
D018270Carcinoma, Ductal, BreastC04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
C562694Epilepsy, Idiopathic Generalized (supp.)
C566021Tuberous Sclerosis 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

ChemicalActions (top 5)PubMed papers
(+)-JQ1 compounddecreases expression, increases expression3
Valproic Acidincreases expression, increases methylation, affects expression3
sodium arsenitedecreases expression2
cobaltous chloridedecreases expression2
dicrotophosdecreases expression1
tris(2-butoxyethyl) phosphateaffects expression1
sulforaphanedecreases expression1
2-palmitoylglycerolincreases expression1
jinfukangincreases expression1
Air Pollutantsdecreases expression, increases abundance1
Diazinonincreases methylation1
Ethyl Methanesulfonatedecreases expression1
Formaldehydedecreases expression1
Methotrexatedecreases expression1
Methyl Methanesulfonatedecreases expression1
Smokedecreases expression1
Thiramdecreases expression1
Tobacco Smoke Pollutiondecreases expression1
Urethanedecreases expression1
Cyclosporinedecreases expression1
Copper Sulfatedecreases expression1
Acrylamidedecreases expression1
Vitamin K 3affects expression1
Particulate Matterdecreases expression, increases abundance1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_SM85HAP1 FAM173A (-)Cancer cell lineMale

Clinical trials (associated diseases)

36 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT03590197PHASE4COMPLETEDEffect of Melatonin on Seizure Outcome, Neuronal Damage and Quality of Life in Patients With Generalized Epilepsy
NCT03940326PHASE4COMPLETEDLevetiracetam Versus Valproate in Idiopathic Generalized Tonic-clonic Seizures
NCT03414970PHASE3ACTIVE_NOT_RECRUITINGHypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00150735PHASE3COMPLETEDMonotherapy With Levetiracetam in Newly Diagnosed Patients Suffering From Epilepsy
NCT00150748PHASE3COMPLETEDLong Term Follow up Treatment With Levetiracetam in Subjects of 4 Years and Older With Generalized Epilepsy
NCT03678753PHASE3COMPLETEDRandomized, Double-Blind Study to Evaluate Efficacy and Safety of Cenobamate Adjunctive Therapy in PGTC Seizures
NCT05147571PHASE3ACTIVE_NOT_RECRUITINGRNS System NAUTILUS Study
NCT00461344PHASE2TERMINATEDDocetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999PHASE2NOT_YET_RECRUITINGRandomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT06908356PHASE2RECRUITINGAn Open Label Trial to Evaluate the Efficacy and Safety of PRAX-628 in Adults With Focal Onset or Tonic-Clonic Seizures
NCT02201212PHASE2COMPLETEDEverolimus for Cancer With TSC1 or TSC2 Mutation
NCT05103358PHASE2ACTIVE_NOT_RECRUITINGPhase 2 Basket Trial of Nab-sirolimus in Patients With Malignant Solid Tumors With Pathogenic Alterations in TSC1/TSC2 Genes (PRECISION 1)
NCT00637364PHASE1/PHASE2SUSPENDEDHigh Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855PHASE1/PHASE2COMPLETEDTalimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908EARLY_PHASE1COMPLETEDBroccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041EARLY_PHASE1COMPLETEDIntraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974Not specifiedACTIVE_NOT_RECRUITINGNipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198Not specifiedTERMINATEDOncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397Not specifiedUNKNOWNMRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532Not specifiedCOMPLETEDLiving Well After Breast Surgery
NCT06425159PHASE2/PHASE3TERMINATEDA Study to Determine if BHV-7000 is Effective and Safe in Adults With Idiopathic Generalized Epilepsy With Generalized Tonic-clonic Seizures
NCT00001325Not specifiedCOMPLETEDMetabolic Abnormalities in Children With Epilepsy
NCT00916903Not specifiedTERMINATEDGenetic Disease Gene Identification
NCT01311440Not specifiedCOMPLETEDModified Atkins Diet Treatment for Adults With Drug-resistant Epilepsy
NCT01432821Not specifiedCOMPLETEDBlinking and Yawning in Epilepsy: The Role of Dopamine
NCT03368469Not specifiedWITHDRAWNTranscranial Direct Current Stimulation (tDCS) in Children and Adolescents With Epilepsy and Depression
NCT03457961Not specifiedUNKNOWNPost-market Study of AMPA Receptor Antagonists for Epilepsy Patients in Hong Kong
NCT03955432Not specifiedTERMINATEDLong-term Cardiac Monitoring in Epilepsy
NCT04252846Not specifiedCOMPLETEDA Study to Investigate Dosage, Effectiveness, and Safety of Perampanel When Used as First Add-on Therapy in Participants >=12 Years With Partial Onset Seizures With or Without Secondary Generalization or With Primary Generalized Tonic-Clonic Seizures Associated With Idiopathic Generalized Epilepsy
NCT04965571Not specifiedCOMPLETEDClinical Features and Outcome of Wilson’s Disease With Generalized Epilepsy in Chinese Patients
NCT05374928Not specifiedACTIVE_NOT_RECRUITINGHuman Epilepsy Project 3
NCT05530109Not specifiedTERMINATEDStudy of Attentional Disorders in Patients Suffering From Idiopathic Generalized Epilepsy.
NCT06388174Not specifiedRECRUITINGIdiopathic Generalized Epilepsy Syndromes
NCT06797791Not specifiedCOMPLETEDAssessment of Multifocal Continuous Theta Burst Transcranial Magnetic Stimulation (cTBS) Effects in Generalized Epilepsy Patients.
NCT03655223Not specifiedENROLLING_BY_INVITATIONEarly Check: Expanded Screening in Newborns
NCT03817515Not specifiedAPPROVED_FOR_MARKETINGExpanded Access for ABI-009 in Patients With Advanced PEComa and Patients With a Malignancy With Relevant Genetic Mutations or mTOR Pathway Activation