MCID: JVN007
MIFTS: 42

Juvenile Absence Epilepsy

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Juvenile Absence Epilepsy

MalaCards integrated aliases for Juvenile Absence Epilepsy:

Name: Juvenile Absence Epilepsy 12 53 15
Epilepsy Juvenile Absence 76 53 29 6
Childhood Absence Epilepsy 53
Absence Epilepsy 73
Jae 53

Classifications:



Summaries for Juvenile Absence Epilepsy

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1941Disease definitionJuvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.EpidemiologyThe incidence of JAE is still unknown but it accounts for approximately 2-3% of patients with adult epilepsy in general, and about 8-10% of patients with genetic generalized epilepsy (GGE). No sex predominance has been observed.Clinical descriptionJAE is characterized by sporadic occurrence of absence seizures (only one or a few absences daily; 100% of cases), frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS; 80%) and sporadic myoclonic jerks (20%). The seizures onset is typically between 9 and 13 years of age and it manifests as a ''staring spell'' that can be accompanied by atonic postures such as drooping of the head and/or automatisms such as lip smacking. GTCS and myoclonic seizures often occur 1-10 years after the absence seizure onset. Patients with JAE usually develop normally, although uncontrolled absence seizures may have an impact on their ability to learn at school.EtiologyThe exact etiology of JAE is still elusive. However, genetic mutations for voltage-gated sodium channels (CACNB4 gene (2q22-q23)), potassium channels (CLCN2 gene (3q27.1)), and EFHC1 (6p12.3) may be involved in a subset of patients. Moreover, different mutations have been found in genes for GABA receptors (ligand ion channels), specifically in the GABRA1 gene (5q34).Diagnostic methodsDiagnosis relies on the clinical features and on electroencephalogram (EEG) recorded awake and during sleep, that displays a generalized 3-4 Hz spike-and-slow-wave complexes.Differential diagnosisDifferential diagnosis includes childhood absence epilepsy, juvenile myoclonic epilepsy, Jeavons syndrome (see these terms).Genetic counselingThe transmission is still unknown although an increased risk for first degree related parents to develop JME may exist.Management and treatmentThe antiepileptic drugs of choice are valproic acid (VPA) and lamotrigine (LTG). In cases where VPA deals with only partial seizure control, add-on of LTG (GTCS) or ethosuximide (absence seizures) can be beneficial.PrognosisPrognosis of JAE is usually favorable with good therapy responsiveness. Generally, seizure freedom can be achieved with antiepileptic medication in 62-84% of all patients with JAE. However, the occurrence of GTCS predicts a worse prognosis.Visit the Orphanet disease page for more resources.

MalaCards based summary : Juvenile Absence Epilepsy, also known as epilepsy juvenile absence, is related to epilepsy, idiopathic generalized 10 and childhood absence epilepsy, and has symptoms including seizures, absence attacks and absence seizures. An important gene associated with Juvenile Absence Epilepsy is EFHC1 (EF-Hand Domain Containing 1), and among its related pathways/superpathways is Transmission across Chemical Synapses. The drugs Ethosuximide and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are abnormality of the mouth and abnormality of eye movement

Disease Ontology : 12 An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures.

Wikipedia : 76 Absence seizures are one of several kinds of generalized seizures. These seizures are sometimes referred... more...

Related Diseases for Juvenile Absence Epilepsy

Graphical network of the top 20 diseases related to Juvenile Absence Epilepsy:



Diseases related to Juvenile Absence Epilepsy

Symptoms & Phenotypes for Juvenile Absence Epilepsy

Human phenotypes related to Juvenile Absence Epilepsy:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 abnormality of the mouth 32 frequent (33%) HP:0000153
2 abnormality of eye movement 32 frequent (33%) HP:0000496
3 myoclonus 32 very rare (1%) HP:0001336
4 generalized tonic-clonic seizures 32 hallmark (90%) HP:0002069
5 absence seizures 32 occasional (7.5%) HP:0002121
6 febrile seizures 32 occasional (7.5%) HP:0002373
7 eeg with polyspike wave complexes 32 hallmark (90%) HP:0002392

UMLS symptoms related to Juvenile Absence Epilepsy:


seizures, absence attacks, absence seizures

MGI Mouse Phenotypes related to Juvenile Absence Epilepsy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 ALDH5A1 CACNA1H CLCN2 EFHC1 GABRA1 GRIK1
2 muscle MP:0005369 9.26 ALDH5A1 CACNA1H EFHC1 GABRA1
3 nervous system MP:0003631 9.1 CLCN2 EFHC1 GABRA1 GRIK1 ALDH5A1 CACNA1H

Drugs & Therapeutics for Juvenile Absence Epilepsy

Drugs for Juvenile Absence Epilepsy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethosuximide Approved Phase 3 77-67-8 3291
2
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
3
Valproic Acid Approved, Investigational Phase 3 99-66-1 3121
4 Anticonvulsants Phase 3,Phase 2,Not Applicable
5 Antimanic Agents Phase 3
6 calcium channel blockers Phase 3
7 Calcium, Dietary Phase 3
8 Central Nervous System Depressants Phase 3
9 Diuretics, Potassium Sparing Phase 3
10 Excitatory Amino Acid Antagonists Phase 3
11 Excitatory Amino Acids Phase 3
12 GABA Agents Phase 3
13 Neurotransmitter Agents Phase 3
14 Psychotropic Drugs Phase 3
15 Sodium Channel Blockers Phase 3
16 Tranquilizing Agents Phase 3
17
Topiramate Approved Phase 2 97240-79-4 5284627
18 Piracetam Approved, Investigational Phase 2,Not Applicable 7491-74-9
19 Etiracetam Investigational Phase 2,Not Applicable 33996-58-6
20 Anti-Obesity Agents Phase 2
21 Neuroprotective Agents Phase 2,Not Applicable
22 Protective Agents Phase 2,Not Applicable
23 Nootropic Agents Phase 2,Not Applicable
24 Pharmaceutical Solutions Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Childhood Absence Epilepsy Rx PK-PD-Pharmacogenetics Study Completed NCT00088452 Phase 3 ethosuximide;lamotrigine;valproic acid
2 A Pilot Study of Topiramate in Childhood Absence Epilepsy Completed NCT00210574 Phase 2 topiramate
3 A Safety and Efficacy Follow-up Study With Levetiracetam in Children (4-17 Years Old) Suffering From Absence Seizures Completed NCT00545012 Phase 2 Levetiracetam
4 Long-Term Safety of Pharmaceutical Grade Synthetic Cannabidiol Oral Solution in Pediatric Participants With Treatment-Resistant Childhood Absence Seizures Recruiting NCT03355300 Phase 2 Cannabidiol Oral Solution
5 Cannabidiol Oral Solution in Pediatric Participants With Treatment-Resistant Childhood Absence Seizures Recruiting NCT03336242 Phase 2 Cannabidiol Oral Solution
6 A Pilot Study of Efficacy and Tolerability of Levetiracetam Monotherapy in Subjects With Childhood Absence Epilepsy Completed NCT00361010 Not Applicable Levetiracetam
7 Search for Genes Influencing Childhood Absence Epilepsy (CAE) Study Completed NCT00041951
8 Why Are Patients With Absence Seizures Absent? A Brain Imaging Study Completed NCT00393666
9 Functional Magnetic Resonance Imaging (fMRI) Study of Memory in Children Completed NCT00242905

Search NIH Clinical Center for Juvenile Absence Epilepsy

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Juvenile Absence Epilepsy

Genetic tests related to Juvenile Absence Epilepsy:

# Genetic test Affiliating Genes
1 Epilepsy Juvenile Absence 29 EFHC1

Anatomical Context for Juvenile Absence Epilepsy

MalaCards organs/tissues related to Juvenile Absence Epilepsy:

41
Brain, Eye

Publications for Juvenile Absence Epilepsy

Articles related to Juvenile Absence Epilepsy:

(show all 19)
# Title Authors Year
1
Relapse after treatment withdrawal of antiepileptic drugs for Juvenile Absence Epilepsy and Juvenile Myoclonic Epilepsy. ( 29807291 )
2018
2
Cortical and subcortical brain alterations in Juvenile Absence Epilepsy. ( 27551668 )
2016
3
Celiac Disease and Juvenile Absence Epilepsy. ( 26626904 )
2015
4
Seizure outcome in patients with juvenile absence epilepsy. ( 26531750 )
2015
5
Zonisamide for refractory juvenile absence epilepsy. ( 24907183 )
2014
6
Long-term seizure outcome in patients with juvenile absence epilepsy; a retrospective study in a tertiary referral center. ( 24684814 )
2014
7
The double generalization phenomenon in juvenile absence epilepsy. ( 21571594 )
2011
8
An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic-clonic seizures. ( 21320115 )
2011
9
Temporal intermittent I' activity: a marker of juvenile absence epilepsy? ( 21044851 )
2011
10
Long term prognosis of juvenile absence epilepsy. ( 21163225 )
2011
11
A proton magnetic resonance spectroscopic study in juvenile absence epilepsy in early stages. ( 19616977 )
2010
12
Generalized spike-wave discharges involve a default mode network in patients with juvenile absence epilepsy: a MEG study. ( 20061122 )
2010
13
Juvenile absence epilepsy exacerbated by valproic acid. ( 17275666 )
2007
14
Outcome of children with juvenile absence epilepsy. ( 16970883 )
2006
15
Long-term prognosis for childhood and juvenile absence epilepsy. ( 15503104 )
2004
16
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy. ( 15582027 )
2004
17
Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure. ( 11920863 )
2002
18
Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism. ( 9259378 )
1997
19
Clinical and genetic aspects of juvenile absence epilepsy. ( 7964917 )
1994

Variations for Juvenile Absence Epilepsy

ClinVar genetic disease variations for Juvenile Absence Epilepsy:

6
(show top 50) (show all 92)
# Gene Variation Type Significance SNP ID Assembly Location
1 EFHC1 NM_018100.3(EFHC1): c.685T> C (p.Phe229Leu) single nucleotide variant risk factor rs137852776 GRCh37 Chromosome 6, 52317597: 52317597
2 EFHC1 NM_018100.3(EFHC1): c.685T> C (p.Phe229Leu) single nucleotide variant risk factor rs137852776 GRCh38 Chromosome 6, 52452799: 52452799
3 EFHC1 NM_018100.3(EFHC1): c.520A> G (p.Ile174Val) single nucleotide variant risk factor rs137852779 GRCh37 Chromosome 6, 52303336: 52303336
4 EFHC1 NM_018100.3(EFHC1): c.520A> G (p.Ile174Val) single nucleotide variant risk factor rs137852779 GRCh38 Chromosome 6, 52438538: 52438538
5 EFHC1 NM_018100.3(EFHC1): c.776G> A (p.Cys259Tyr) single nucleotide variant risk factor rs137852780 GRCh37 Chromosome 6, 52318945: 52318945
6 EFHC1 NM_018100.3(EFHC1): c.776G> A (p.Cys259Tyr) single nucleotide variant risk factor rs137852780 GRCh38 Chromosome 6, 52454147: 52454147
7 EFHC1 NM_018100.3(EFHC1): c.1675T> C (p.Leu559=) single nucleotide variant Conflicting interpretations of pathogenicity rs145194882 GRCh37 Chromosome 6, 52354972: 52354972
8 EFHC1 NM_018100.3(EFHC1): c.1675T> C (p.Leu559=) single nucleotide variant Conflicting interpretations of pathogenicity rs145194882 GRCh38 Chromosome 6, 52490174: 52490174
9 EFHC1 NM_018100.3(EFHC1): c.475C> G (p.Arg159Gly) single nucleotide variant Benign/Likely benign rs3804506 GRCh37 Chromosome 6, 52303291: 52303291
10 EFHC1 NM_018100.3(EFHC1): c.475C> G (p.Arg159Gly) single nucleotide variant Benign/Likely benign rs3804506 GRCh38 Chromosome 6, 52438493: 52438493
11 EFHC1 NM_018100.3(EFHC1): c.916A> G (p.Lys306Glu) single nucleotide variant Uncertain significance rs201263733 GRCh37 Chromosome 6, 52319085: 52319085
12 EFHC1 NM_018100.3(EFHC1): c.916A> G (p.Lys306Glu) single nucleotide variant Uncertain significance rs201263733 GRCh38 Chromosome 6, 52454287: 52454287
13 EFHC1 NM_018100.3(EFHC1): c.1306C> T (p.Arg436Cys) single nucleotide variant Uncertain significance rs377286138 GRCh37 Chromosome 6, 52343862: 52343862
14 EFHC1 NM_018100.3(EFHC1): c.1306C> T (p.Arg436Cys) single nucleotide variant Uncertain significance rs377286138 GRCh38 Chromosome 6, 52479064: 52479064
15 EFHC1 NM_018100.3(EFHC1): c.97T> C (p.Tyr33His) single nucleotide variant Uncertain significance rs374402088 GRCh37 Chromosome 6, 52288777: 52288777
16 EFHC1 NM_018100.3(EFHC1): c.97T> C (p.Tyr33His) single nucleotide variant Uncertain significance rs374402088 GRCh38 Chromosome 6, 52423979: 52423979
17 EFHC1 NM_018100.3(EFHC1): c.151C> T (p.Arg51Trp) single nucleotide variant Uncertain significance rs374661645 GRCh37 Chromosome 6, 52288831: 52288831
18 EFHC1 NM_018100.3(EFHC1): c.151C> T (p.Arg51Trp) single nucleotide variant Uncertain significance rs374661645 GRCh38 Chromosome 6, 52424033: 52424033
19 EFHC1 NM_018100.3(EFHC1): c.266A> G (p.His89Arg) single nucleotide variant Uncertain significance rs543160745 GRCh38 Chromosome 6, 52424148: 52424148
20 EFHC1 NM_018100.3(EFHC1): c.266A> G (p.His89Arg) single nucleotide variant Uncertain significance rs543160745 GRCh37 Chromosome 6, 52288946: 52288946
21 EFHC1 NM_018100.3(EFHC1): c.547G> A (p.Val183Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs769591944 GRCh38 Chromosome 6, 52438565: 52438565
22 EFHC1 NM_018100.3(EFHC1): c.547G> A (p.Val183Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs769591944 GRCh37 Chromosome 6, 52303363: 52303363
23 EFHC1 NM_018100.3(EFHC1): c.661C> T (p.Arg221Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs139197513 GRCh37 Chromosome 6, 52317573: 52317573
24 EFHC1 NM_018100.3(EFHC1): c.661C> T (p.Arg221Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs139197513 GRCh38 Chromosome 6, 52452775: 52452775
25 EFHC1 NM_018100.3(EFHC1): c.731G> A (p.Arg244Gln) single nucleotide variant Uncertain significance rs140476054 GRCh38 Chromosome 6, 52454102: 52454102
26 EFHC1 NM_018100.3(EFHC1): c.731G> A (p.Arg244Gln) single nucleotide variant Uncertain significance rs140476054 GRCh37 Chromosome 6, 52318900: 52318900
27 EFHC1 NM_018100.3(EFHC1): c.817G> T (p.Val273Leu) single nucleotide variant Uncertain significance rs369926953 GRCh37 Chromosome 6, 52318986: 52318986
28 EFHC1 NM_018100.3(EFHC1): c.817G> T (p.Val273Leu) single nucleotide variant Uncertain significance rs369926953 GRCh38 Chromosome 6, 52454188: 52454188
29 EFHC1 NM_018100.3(EFHC1): c.1057C> T (p.Arg353Trp) single nucleotide variant Uncertain significance rs527295360 GRCh38 Chromosome 6, 52465035: 52465035
30 EFHC1 NM_018100.3(EFHC1): c.1057C> T (p.Arg353Trp) single nucleotide variant Uncertain significance rs527295360 GRCh37 Chromosome 6, 52329833: 52329833
31 EFHC1 NM_018100.3(EFHC1): c.1114C> T (p.Arg372Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs371151471 GRCh37 Chromosome 6, 52329890: 52329890
32 EFHC1 NM_018100.3(EFHC1): c.1114C> T (p.Arg372Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs371151471 GRCh38 Chromosome 6, 52465092: 52465092
33 EFHC1 NM_018100.3(EFHC1): c.1557C> T (p.Asn519=) single nucleotide variant Conflicting interpretations of pathogenicity rs773385237 GRCh37 Chromosome 6, 52344502: 52344502
34 EFHC1 NM_018100.3(EFHC1): c.1557C> T (p.Asn519=) single nucleotide variant Conflicting interpretations of pathogenicity rs773385237 GRCh38 Chromosome 6, 52479704: 52479704
35 EFHC1 NM_018100.3(EFHC1): c.647G> A (p.Arg216Gln) single nucleotide variant Uncertain significance rs77682973 GRCh38 Chromosome 6, 52452761: 52452761
36 EFHC1 NM_018100.3(EFHC1): c.647G> A (p.Arg216Gln) single nucleotide variant Uncertain significance rs77682973 GRCh37 Chromosome 6, 52317559: 52317559
37 EFHC1 NM_018100.3(EFHC1): c.564A> G (p.Gln188=) single nucleotide variant Uncertain significance rs766444850 GRCh37 Chromosome 6, 52303380: 52303380
38 EFHC1 NM_018100.3(EFHC1): c.564A> G (p.Gln188=) single nucleotide variant Uncertain significance rs766444850 GRCh38 Chromosome 6, 52438582: 52438582
39 EFHC1 NM_018100.3(EFHC1): c.1820A> G (p.Asn607Ser) single nucleotide variant Benign rs115475262 GRCh37 Chromosome 6, 52355117: 52355117
40 EFHC1 NM_018100.3(EFHC1): c.1820A> G (p.Asn607Ser) single nucleotide variant Benign rs115475262 GRCh38 Chromosome 6, 52490319: 52490319
41 EFHC1 NM_018100.3(EFHC1): c.1221dupA (p.Asp408Argfs) duplication Uncertain significance rs754483740 GRCh37 Chromosome 6, 52334214: 52334214
42 EFHC1 NM_018100.3(EFHC1): c.1221dupA (p.Asp408Argfs) duplication Uncertain significance rs754483740 GRCh38 Chromosome 6, 52469416: 52469416
43 EFHC1 NM_018100.3(EFHC1): c.1586C> A (p.Ala529Glu) single nucleotide variant Uncertain significance rs759944784 GRCh37 Chromosome 6, 52344531: 52344531
44 EFHC1 NM_018100.3(EFHC1): c.1586C> A (p.Ala529Glu) single nucleotide variant Uncertain significance rs759944784 GRCh38 Chromosome 6, 52479733: 52479733
45 EFHC1 NM_018100.3(EFHC1): c.682_692delGACTTTGATCA (p.Asp228Thrfs) deletion Uncertain significance rs1064792981 GRCh38 Chromosome 6, 52452796: 52452806
46 EFHC1 NM_018100.3(EFHC1): c.682_692delGACTTTGATCA (p.Asp228Thrfs) deletion Uncertain significance rs1064792981 GRCh37 Chromosome 6, 52317594: 52317604
47 EFHC1 NM_018100.3(EFHC1): c.125G> A (p.Arg42His) single nucleotide variant Uncertain significance rs773598517 GRCh38 Chromosome 6, 52424007: 52424007
48 EFHC1 NM_018100.3(EFHC1): c.125G> A (p.Arg42His) single nucleotide variant Uncertain significance rs773598517 GRCh37 Chromosome 6, 52288805: 52288805
49 EFHC1 NM_018100.3(EFHC1): c.1369C> T (p.Arg457Cys) single nucleotide variant Uncertain significance rs373196171 GRCh38 Chromosome 6, 52479127: 52479127
50 EFHC1 NM_018100.3(EFHC1): c.1369C> T (p.Arg457Cys) single nucleotide variant Uncertain significance rs373196171 GRCh37 Chromosome 6, 52343925: 52343925

Expression for Juvenile Absence Epilepsy

Search GEO for disease gene expression data for Juvenile Absence Epilepsy.

Pathways for Juvenile Absence Epilepsy

Pathways related to Juvenile Absence Epilepsy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 ALDH5A1 GABRA1 GRIK1

GO Terms for Juvenile Absence Epilepsy

Cellular components related to Juvenile Absence Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.02 CACNA1H CLCN2 GABRA1 GJA8 GRIK1
2 chloride channel complex GO:0034707 8.96 CLCN2 GABRA1

Biological processes related to Juvenile Absence Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.5 CACNA1H CLCN2 GJA8
2 regulation of ion transmembrane transport GO:0034765 9.43 CACNA1H CLCN2
3 central nervous system development GO:0007417 9.4 ALDH5A1 GRIK1
4 regulation of membrane potential GO:0042391 9.37 CACNA1H GABRA1
5 chloride transmembrane transport GO:1902476 9.26 CLCN2 GABRA1
6 ion transport GO:0006811 9.26 CACNA1H CLCN2 GABRA1 GRIK1
7 chloride transport GO:0006821 9.16 CLCN2 GABRA1
8 ion transmembrane transport GO:0034220 8.92 CACNA1H CLCN2 GABRA1 GRIK1

Molecular functions related to Juvenile Absence Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.16 GABRA1 GRIK1
2 chloride channel activity GO:0005254 8.96 CLCN2 GABRA1
3 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 8.62 GABRA1 GRIK1

Sources for Juvenile Absence Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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