JAE1
MCID: EPL133
MIFTS: 26

Epilepsy, Juvenile Absence 1 (JAE1) malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Juvenile Absence 1

Aliases & Descriptions for Epilepsy, Juvenile Absence 1:

Name: Epilepsy, Juvenile Absence 1 54
Epilepsy, Juvenile Absence, Susceptibility to, 1 54 24 13
Eja1 24 66
Susceptibility to Juvenile Absence Epilepsy 1 66
Juvenile Absence Epilepsy 1 66
Juvenile Absence Epilepsy 56
Absence Epilepsy 69
Jae1 66
Jae 56

Characteristics:

Orphanet epidemiological data:

56
juvenile absence epilepsy
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent;

HPO:

32
epilepsy, juvenile absence 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 607631
Orphanet 56 ORPHA1941
MESH via Orphanet 43 C535495
UMLS via Orphanet 70 C2930918
ICD10 via Orphanet 34 G40.3
MeSH 42 D004832

Summaries for Epilepsy, Juvenile Absence 1

UniProtKB/Swiss-Prot : 66 Juvenile absence epilepsy 1: A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures.

MalaCards based summary : Epilepsy, Juvenile Absence 1, also known as epilepsy, juvenile absence, susceptibility to, 1, is related to juvenile absence epilepsy and epilepsy, idiopathic generalized 11, and has symptoms including absence seizures, myoclonus and abnormality of eye movement. An important gene associated with Epilepsy, Juvenile Absence 1 is EFHC1 (EF-Hand Domain Containing 1). The drugs Lamotrigine and Valproic Acid have been mentioned in the context of this disorder. Affiliated tissues include eye.

Description from OMIM: 607631

Related Diseases for Epilepsy, Juvenile Absence 1

Diseases in the Juvenile Absence Epilepsy family:

Epilepsy, Juvenile Absence 1 Early Onset Absence Epilepsy

Diseases related to Epilepsy, Juvenile Absence 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 juvenile absence epilepsy 12.2
2 epilepsy, idiopathic generalized 11 11.7
3 epilepsy, generalized, with febrile seizures plus, type 5 10.9
4 epilepsy 10.3
5 succinic semialdehyde dehydrogenase deficiency 9.7
6 celiac disease 9.7

Graphical network of the top 20 diseases related to Epilepsy, Juvenile Absence 1:



Diseases related to Epilepsy, Juvenile Absence 1

Symptoms & Phenotypes for Epilepsy, Juvenile Absence 1

Symptoms by clinical synopsis from OMIM:

607631

Clinical features from OMIM:

607631

Human phenotypes related to Epilepsy, Juvenile Absence 1:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 absence seizures 56 32 Occasional (29-5%) HP:0002121
2 myoclonus 56 Very rare (<4-1%)
3 abnormality of eye movement 56 Frequent (79-30%)
4 generalized myoclonic seizures 32 HP:0002123
5 generalized tonic-clonic seizures 56 Very frequent (99-80%)
6 generalized seizures 56 Very frequent (99-80%)
7 eeg with polyspike wave complexes 56 Very frequent (99-80%)
8 abnormality of the mouth 56 Frequent (79-30%)
9 febrile seizures 56 Occasional (29-5%)
10 eeg with spike-wave complexes (>3.5 hz) 32 HP:0010849
11 generalized tonic-clonic seizures on awakening 32 HP:0007193

UMLS symptoms related to Epilepsy, Juvenile Absence 1:


seizures, absence attacks

Drugs & Therapeutics for Epilepsy, Juvenile Absence 1

Drugs for Epilepsy, Juvenile Absence 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamotrigine Approved, Investigational Phase 3,Phase 1 84057-84-1 3878
2
Valproic Acid Approved, Investigational Phase 3,Phase 1 99-66-1 3121
3
Ethosuximide Approved Phase 3 77-67-8 3291
4
Lacosamide Approved Phase 3,Phase 2 860352-01-8, 175481-36-4 219078
5 calcium channel blockers Phase 3,Phase 2,Phase 1
6 GABA Agents Phase 3,Phase 1
7 Sodium Channel Blockers Phase 3,Phase 1
8 Neurotransmitter Agents Phase 3,Phase 1
9 Tranquilizing Agents Phase 3,Phase 1
10 Diuretics, Potassium Sparing Phase 3,Phase 1
11 Pharmaceutical Solutions Phase 3,Phase 2
12 Excitatory Amino Acid Antagonists Phase 3,Phase 1
13 Excitatory Amino Acids Phase 3,Phase 1
14 Anticonvulsants Phase 3,Phase 2,Phase 1
15 Psychotropic Drugs Phase 3,Phase 1
16 Antimanic Agents Phase 3,Phase 1
17 Calcium, Dietary Phase 3,Phase 2,Phase 1
18 Central Nervous System Depressants Phase 3,Phase 1
19
Verapamil Approved Phase 2 52-53-9 2520
20
Glycerol Approved, Experimental Phase 2 56-81-5 753
21 Vasodilator Agents Phase 2
22 Anti-Arrhythmia Agents Phase 2
23 Protective Agents Phase 2
24 Convulsants

Interventional clinical trials:

(show all 13)
id Name Status NCT ID Phase
1 Clinical Study of Lamotrigine to Treat Newly Diagnosed Typical Absence Seizure in Children and Adolescents Completed NCT01431976 Phase 3
2 Childhood Absence Epilepsy Rx PK-PD-Pharmacogenetics Study Completed NCT00088452 Phase 3
3 Safety and Efficacy of Lacosamide as Additional Therapy in Patients Suffering From Epileptic Tonic Clonic Seizures Enrolling by invitation NCT02408549 Phase 3
4 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3
5 Open-Label Study to Assess Lacosamide Safety as Add-on Therapy for Primary Generalized Tonic-Clonic Seizures in Subjects With Epilepsy Completed NCT01118949 Phase 2
6 Open-Label Extension Study to Assess the Safety and Seizure Frequency Associated With Lacosamide for Primary Generalized Tonic-Clonic Seizures in Subjects With Epilepsy Completed NCT01118962 Phase 2
7 Verapamil as Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2
8 Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) Active, not recruiting NCT01993186 Phase 2
9 LAMICTAL (Lamotrigine) For The Treatment Of Absence Seizures Completed NCT00144872 Phase 1
10 Molecular Signature of Valproic Acid in Breast Cancer With Functional Imaging Assessment - a Pilot Terminated NCT01007695 Phase 1
11 Tonicity Monitor For Epilepsy and Hypertonic Disorders Unknown status NCT02110589
12 Magnetoencephalography in Absence Seizures Completed NCT00884351
13 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Epilepsy, Juvenile Absence 1

Genetic Tests for Epilepsy, Juvenile Absence 1

Genetic tests related to Epilepsy, Juvenile Absence 1:

id Genetic test Affiliating Genes
1 Epilepsy, Juvenile Absence, Susceptibility to, 1 24 EFHC1

Anatomical Context for Epilepsy, Juvenile Absence 1

MalaCards organs/tissues related to Epilepsy, Juvenile Absence 1:

39
Eye

Publications for Epilepsy, Juvenile Absence 1

Variations for Epilepsy, Juvenile Absence 1

ClinVar genetic disease variations for Epilepsy, Juvenile Absence 1:

6
id 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.520A> G (p.Ile174Val) single nucleotide variant risk factor rs137852779 GRCh37 Chromosome 6, 52303336: 52303336
3 EFHC1 NM_018100.3(EFHC1): c.776G> A (p.Cys259Tyr) single nucleotide variant risk factor rs137852780 GRCh37 Chromosome 6, 52318945: 52318945

Expression for Epilepsy, Juvenile Absence 1

Search GEO for disease gene expression data for Epilepsy, Juvenile Absence 1.

Pathways for Epilepsy, Juvenile Absence 1

GO Terms for Epilepsy, Juvenile Absence 1

Sources for Epilepsy, Juvenile Absence 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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