MCID: EPL132
MIFTS: 24

Epilepsy, Childhood Absence 2

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Childhood Absence 2

MalaCards integrated aliases for Epilepsy, Childhood Absence 2:

Name: Epilepsy, Childhood Absence 2 54 71 29
Epilepsy, Childhood Absence, Susceptibility to, 2 24 13 69
Eca2 24 71

Characteristics:

OMIM:

54
Miscellaneous:
genetic heterogeneity (see eca1, )
accounts for 5-15% of childhood epilepsies
seizures may remit in adolescence
seizures may persist into adulthood
high frequency of absence seizures (several per day)
onset in childhood (6-7 years)

Inheritance:
autosomal dominant


HPO:

32
epilepsy, childhood absence 2:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course childhood onset


Classifications:



Summaries for Epilepsy, Childhood Absence 2

UniProtKB/Swiss-Prot : 71 Epilepsy, childhood absence 2: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Some individuals manifest febrile seizures. Absence seizures may either remit or persist into adulthood.

MalaCards based summary : Epilepsy, Childhood Absence 2, also known as epilepsy, childhood absence, susceptibility to, 2, is related to epilepsy, generalized, with febrile seizures plus, type 3, and has symptoms including absence seizures, febrile seizures and generalized tonic-clonic seizures. An important gene associated with Epilepsy, Childhood Absence 2 is GABRG2 (Gamma-Aminobutyric Acid Type A Receptor Gamma2 Subunit). The drugs Ethosuximide and Lamotrigine have been mentioned in the context of this disorder.

Description from OMIM: 607681

Related Diseases for Epilepsy, Childhood Absence 2

Diseases in the Childhood Absence Epilepsy family:

Epilepsy, Childhood Absence 2 Epilepsy, Childhood Absence 5
Epilepsy, Childhood Absence 6

Diseases related to Epilepsy, Childhood Absence 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 epilepsy, generalized, with febrile seizures plus, type 3 10.9

Symptoms & Phenotypes for Epilepsy, Childhood Absence 2

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
eeg shows 3-4-hz spike and multispike slow wave complexes
febrile seizures may occur
generalized tonic-clonic seizures (often develop in adolescence)
absence seizures


Clinical features from OMIM:

607681

Human phenotypes related to Epilepsy, Childhood Absence 2:

32
id Description HPO Frequency HPO Source Accession
1 absence seizures 32 HP:0002121
2 febrile seizures 32 HP:0002373
3 generalized tonic-clonic seizures 32 HP:0002069
4 eeg with polyspike wave complexes 32 HP:0002392
5 eeg with spike-wave complexes (>3.5 hz) 32 HP:0010849

Drugs & Therapeutics for Epilepsy, Childhood Absence 2

Drugs for Epilepsy, Childhood Absence 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethosuximide Approved Phase 3 77-67-8 3291
2
Lamotrigine Approved, Investigational Phase 3,Phase 1 84057-84-1 3878
3
Valproic Acid Approved, Investigational Phase 3 99-66-1 3121
4
Lacosamide Approved Phase 3,Phase 2 860352-01-8, 175481-36-4 219078
5 Anticonvulsants Phase 3,Phase 2,Phase 1
6 Antimanic Agents Phase 3
7 calcium channel blockers Phase 3,Phase 2,Phase 1
8 Calcium, Dietary Phase 3,Phase 2,Phase 1
9 Central Nervous System Depressants Phase 3
10 Diuretics, Potassium Sparing Phase 3,Phase 1
11 Excitatory Amino Acid Antagonists Phase 3,Phase 1
12 Excitatory Amino Acids Phase 3,Phase 1
13 GABA Agents Phase 3
14 Neurotransmitter Agents Phase 3,Phase 1
15 Psychotropic Drugs Phase 3
16 Sodium Channel Blockers Phase 3,Phase 1
17 Tranquilizing Agents Phase 3
18 Pharmaceutical Solutions Phase 3,Phase 2
19
Topiramate Approved Phase 2 97240-79-4 5284627
20 Piracetam Approved Phase 2 7491-74-9
21
Verapamil Approved Phase 2 52-53-9 2520
22
Glycerol Approved, Investigational Phase 2 56-81-5 753
23 Etiracetam Investigational Phase 2 33996-58-6
24 Anti-Obesity Agents Phase 2
25 Neuroprotective Agents Phase 2
26 Protective Agents Phase 2
27 Nootropic Agents Phase 2
28 Anti-Arrhythmia Agents Phase 2
29 Vasodilator Agents Phase 2

Interventional clinical trials:

(show all 12)

id Name Status NCT ID Phase Drugs
1 Childhood Absence Epilepsy Rx PK-PD-Pharmacogenetics Study Completed NCT00088452 Phase 3 ethosuximide;lamotrigine;valproic acid
2 Clinical Study of Lamotrigine to Treat Newly Diagnosed Typical Absence Seizure in Children and Adolescents Completed NCT01431976 Phase 3 Lamictal
3 Safety and Efficacy of Lacosamide as Additional Therapy in Patients Suffering From Epileptic Tonic Clonic Seizures Enrolling by invitation NCT02408549 Phase 3 Lacosamide Tablet;Lasosamide Oral Solution
4 A Pilot Study of Topiramate in Childhood Absence Epilepsy Completed NCT00210574 Phase 2 topiramate
5 A Safety and Efficacy Follow-up Study With Levetiracetam in Children (4-17 Years Old) Suffering From Absence Seizures Completed NCT00545012 Phase 2 Levetiracetam
6 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 Lacosamide
7 Verapamil as Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2 Verapamil
8 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 Lacosamide
9 Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) Active, not recruiting NCT01993186 Phase 2 UX007 (triheptanoin);Placebo Oil
10 LAMICTAL (Lamotrigine) For The Treatment Of Absence Seizures Completed NCT00144872 Phase 1 Lamotrigine
11 Magnetoencephalography in Absence Seizures Completed NCT00884351
12 Longitudinal Early Epilepsy Study Recruiting NCT02954107

Search NIH Clinical Center for Epilepsy, Childhood Absence 2

Genetic Tests for Epilepsy, Childhood Absence 2

Genetic tests related to Epilepsy, Childhood Absence 2:

id Genetic test Affiliating Genes
1 Epilepsy, Childhood Absence 2 29
2 Epilepsy, Childhood Absence, Susceptibility to, 2 24 GABRG2

Anatomical Context for Epilepsy, Childhood Absence 2

Publications for Epilepsy, Childhood Absence 2

Variations for Epilepsy, Childhood Absence 2

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Childhood Absence 2:

71
id Symbol AA change Variation ID SNP ID
1 GABRG2 p.Arg82Gln VAR_014265 rs28933070

ClinVar genetic disease variations for Epilepsy, Childhood Absence 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GABRG2 NM_000816.3(GABRG2): c.245G> A (p.Arg82Gln) single nucleotide variant Pathogenic,risk factor rs121909673 GRCh37 Chromosome 5, 161520971: 161520971
2 GABRG2 GABRG2, IVS6DS, T-G, +2 single nucleotide variant Pathogenic,risk factor
3 GABRG2 NM_000816.3(GABRG2): c.530delG (p.Arg177Glnfs) deletion Pathogenic rs878854144 GRCh37 Chromosome 5, 161524846: 161524846
4 GABRG2 NM_000816.3(GABRG2): c.1025delG (p.Cys342Phefs) deletion Likely pathogenic rs1060501889 GRCh38 Chromosome 5, 162149210: 162149210

Expression for Epilepsy, Childhood Absence 2

Search GEO for disease gene expression data for Epilepsy, Childhood Absence 2.

Pathways for Epilepsy, Childhood Absence 2

GO Terms for Epilepsy, Childhood Absence 2

Sources for Epilepsy, Childhood Absence 2

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
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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