ECA2
MCID: EPL132
MIFTS: 25

Epilepsy, Childhood Absence 2 (ECA2)

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 58 76 30 6
Epilepsy, Childhood Absence, Susceptibility to, 2 58 13 74
Eca2 58 76
Epilepsy, Childhood Absence, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
epilepsy, childhood absence 2:
Onset and clinical course childhood onset
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 607681
MeSH 45 D004832
MedGen 43 C1843244
UMLS 74 C1843244

Summaries for Epilepsy, Childhood Absence 2

UniProtKB/Swiss-Prot : 76 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 generalized epilepsy with febrile seizures plus, type 3, and has symptoms including absence seizures An important gene associated with Epilepsy, Childhood Absence 2 is GABRG2 (Gamma-Aminobutyric Acid Type A Receptor Gamma2 Subunit). The drugs Enalapril and Enalaprilat have been mentioned in the context of this disorder. Related phenotypes are generalized tonic-clonic seizures and eeg with polyspike wave complexes

Description from OMIM: 607681

Related Diseases for Epilepsy, Childhood Absence 2

Diseases in the Childhood Absence Epilepsy family:

Epilepsy, Childhood Absence 1 Epilepsy, Childhood Absence 2
Epilepsy, Childhood Absence 6 Epilepsy, Childhood Absence 5

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

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 generalized epilepsy with febrile seizures plus, type 3 11.2

Symptoms & Phenotypes for Epilepsy, Childhood Absence 2

Human phenotypes related to Epilepsy, Childhood Absence 2:

33 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 33 HP:0002069
2 eeg with polyspike wave complexes 33 HP:0002392
3 absence seizure 33 HP:0002121
4 febrile seizures 33 HP:0002373
5 eeg with spike-wave complexes (>3.5 hz) 33 HP:0010849

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
absence seizures
febrile seizures may occur
generalized tonic-clonic seizures (often develop in adolescence)
eeg shows 3-4-hz spike and multispike slow wave complexes

Clinical features from OMIM:

607681

UMLS symptoms related to Epilepsy, Childhood Absence 2:


absence seizures

Drugs & Therapeutics for Epilepsy, Childhood Absence 2

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

(showing 52, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Enalapril Approved, Vet_approved Phase 3 75847-73-3 40466924 5362032
2
Enalaprilat Approved Phase 3 76420-72-9 6917719
3
Hydralazine Approved Phase 3 86-54-4 3637
4
tannic acid Approved Phase 3 1401-55-4
5
Clonidine Approved Phase 3 4205-90-7 2803
6
Nitroprusside Approved, Investigational Phase 3 15078-28-1 11963622
7
Nicardipine Approved, Investigational Phase 3 55985-32-5 4474
8
Labetalol Approved Phase 3 36894-69-6 3869
9
Esmolol Approved Phase 3 103598-03-4, 81147-92-4 59768
10
Nitroglycerin Approved, Investigational Phase 3 55-63-0 4510
11
Phentolamine Approved Phase 3 50-60-2 5775
12
Glycerol Approved, Investigational Phase 3 56-81-5 753
13
Metoprolol Approved, Investigational Phase 3 37350-58-6, 51384-51-1 4171
14
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
15
Tenecteplase Approved Phase 3 191588-94-0
16
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
17 Urapidil Investigational Phase 3 34661-75-1
18 Fibrinolytic Agents Phase 3,Phase 2,Not Applicable
19 Tissue Plasminogen Activator Phase 3,Phase 2,Not Applicable
20 Plasminogen Phase 3,Phase 2,Not Applicable
21 HIV Protease Inhibitors Phase 3
22
protease inhibitors Phase 3
23 Sympathomimetics Phase 3
24 Adrenergic alpha-1 Receptor Antagonists Phase 3
25 Adrenergic alpha-Agonists Phase 3
26 Adrenergic Agonists Phase 3
27 Antihypertensive Agents Phase 3
28 Adrenergic beta-1 Receptor Antagonists Phase 3
29 Calcium, Dietary Phase 3
30 Angiotensin-Converting Enzyme Inhibitors Phase 3
31 Peripheral Nervous System Agents Phase 3
32 Adrenergic alpha-2 Receptor Agonists Phase 3
33 Analgesics Phase 3
34 Adrenergic beta-Antagonists Phase 3
35 Neurotransmitter Agents Phase 3
36 Adrenergic alpha-Antagonists Phase 3
37 Hormones Phase 3
38 Protective Agents Phase 3
39 Sympatholytics Phase 3
40 Adrenergic Antagonists Phase 3
41 Vasodilator Agents Phase 3
42 Autonomic Agents Phase 3
43 Adrenergic Agents Phase 3
44 Anti-Arrhythmia Agents Phase 3
45 Serotonin Receptor Agonists Phase 3
46 calcium channel blockers Phase 3
47 Serotonin Agents Phase 3
48
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
49
Lactitol Investigational Phase 2 585-88-6, 585-86-4 493591
50 Fingolimod Hydrochloride Phase 2
51 Immunosuppressive Agents Phase 2
52 Immunologic Factors Phase 2

Interventional clinical trials:

(showing 6, show less)
# Name Status NCT ID Phase Drugs
1 Enhanced Control of Hypertension and Thrombolysis Stroke Study (ENCHANTED) Completed NCT01422616 Phase 3 Low-dose rtPA;Standard-dose rtPA
2 Alteplase-Tenecteplase Trial Evaluation for Stroke Thrombolysis Recruiting NCT02814409 Phase 3 Intravenous recombinant tissue plasminogen activator (rtPA) Alteplase;Intravenous Tenecteplase
3 Combinating Fingolimod With Alteplase Bridging With Mechanical Thrombectomy in Acute Ischemic Stroke Unknown status NCT02956200 Phase 2 Fingolimod
4 Outcome of Patients Treated by iv Rt-PA for Cerebral Ischaemia According to the Ratio Sc-tPA/Tc-tPA Completed NCT01614080
5 Pre-stroke Cognitive Status and Thrombolytic Therapy Completed NCT01713491
6 Pragmatic Ischaemic Stroke Thrombectomy Evaluation Terminated NCT01745692 Not Applicable Intravenous rtPA

Search NIH Clinical Center for Epilepsy, Childhood Absence 2

Genetic Tests for Epilepsy, Childhood Absence 2

Genetic tests related to Epilepsy, Childhood Absence 2:

# Genetic test Affiliating Genes
1 Epilepsy, Childhood Absence 2 30 GABRG2

Anatomical Context for Epilepsy, Childhood Absence 2

Publications for Epilepsy, Childhood Absence 2

Articles related to Epilepsy, Childhood Absence 2:

(showing 6, show less)
# Title Authors Year
1
Agonist-dependent endocytosis of γ-aminobutyric acid type A (GABAA) receptors revealed by a γ2(R43Q) epilepsy mutation. ( 23935098 )
2013
2
A gamma 2(R43Q) mutation, linked to epilepsy in humans, alters GABAA receptor assembly and modifies subunit composition on the cell surface. ( 17148443 )
2007
3
Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies. ( 16510738 )
2006
4
A GABAA receptor mutation linked to human epilepsy (gamma2R43Q) impairs cell surface expression of alphabetagamma receptors. ( 15342642 )
2004
5
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. ( 12117362 )
2002
6
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. ( 11326275 )
2001

Variations for Epilepsy, Childhood Absence 2

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

76 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 GABRG2 p.Arg82Gln VAR_014265 rs121909673

ClinVar genetic disease variations for Epilepsy, Childhood Absence 2:

6 (showing 93, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 GABRG2 NM_000816.3(GABRG2): c.245G> A (p.Arg82Gln) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs121909673 GRCh37 Chromosome 5, 161520971: 161520971
2 GABRG2 NM_000816.3(GABRG2): c.245G> A (p.Arg82Gln) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs121909673 GRCh38 Chromosome 5, 162093965: 162093965
3 GABRG2 NM_198903.2(GABRG2): c.889+2T> G single nucleotide variant Pathogenic,risk factor GRCh38 Chromosome 5, 162104028: 162104028
4 GABRG2 NM_198903.2(GABRG2): c.889+2T> G single nucleotide variant Pathogenic,risk factor GRCh37 Chromosome 5, 161531034: 161531034
5 GABRG2 NM_000816.3(GABRG2): c.354G> A (p.Ala118=) single nucleotide variant Benign/Likely benign rs61735412 GRCh37 Chromosome 5, 161524670: 161524670
6 GABRG2 NM_000816.3(GABRG2): c.354G> A (p.Ala118=) single nucleotide variant Benign/Likely benign rs61735412 GRCh38 Chromosome 5, 162097664: 162097664
7 GABRG2 NM_000816.3(GABRG2): c.717A> G (p.Gln239=) single nucleotide variant Benign/Likely benign rs78261481 GRCh37 Chromosome 5, 161530980: 161530980
8 GABRG2 NM_000816.3(GABRG2): c.717A> G (p.Gln239=) single nucleotide variant Benign/Likely benign rs78261481 GRCh38 Chromosome 5, 162103974: 162103974
9 GABRG2 NM_000816.3(GABRG2): c.360G> A (p.Thr120=) single nucleotide variant Benign rs77298346 GRCh38 Chromosome 5, 162097670: 162097670
10 GABRG2 NM_000816.3(GABRG2): c.360G> A (p.Thr120=) single nucleotide variant Benign rs77298346 GRCh37 Chromosome 5, 161524676: 161524676
11 GABRG2 NM_000816.3(GABRG2): c.316G> A (p.Ala106Thr) single nucleotide variant Pathogenic/Likely pathogenic rs796052505 GRCh37 Chromosome 5, 161522557: 161522557
12 GABRG2 NM_000816.3(GABRG2): c.316G> A (p.Ala106Thr) single nucleotide variant Pathogenic/Likely pathogenic rs796052505 GRCh38 Chromosome 5, 162095551: 162095551
13 GABRG2 NM_000816.3(GABRG2): c.967C> T (p.Arg323Trp) single nucleotide variant Uncertain significance rs796052510 GRCh38 Chromosome 5, 162149152: 162149152
14 GABRG2 NM_000816.3(GABRG2): c.967C> T (p.Arg323Trp) single nucleotide variant Uncertain significance rs796052510 GRCh37 Chromosome 5, 161576158: 161576158
15 GABRG2 NM_000816.3(GABRG2): c.1088G> A (p.Arg363Gln) single nucleotide variant Uncertain significance rs780199000 GRCh38 Chromosome 5, 162149273: 162149273
16 GABRG2 NM_000816.3(GABRG2): c.1088G> A (p.Arg363Gln) single nucleotide variant Uncertain significance rs780199000 GRCh37 Chromosome 5, 161576279: 161576279
17 GABRG2 NM_000816.3(GABRG2): c.1112A> C (p.Lys371Thr) single nucleotide variant Uncertain significance rs796052512 GRCh38 Chromosome 5, 162149297: 162149297
18 GABRG2 NM_000816.3(GABRG2): c.1112A> C (p.Lys371Thr) single nucleotide variant Uncertain significance rs796052512 GRCh37 Chromosome 5, 161576303: 161576303
19 GABRG2 NM_000816.3(GABRG2): c.1212C> T (p.Tyr404=) single nucleotide variant Benign/Likely benign rs749951528 GRCh38 Chromosome 5, 162153176: 162153176
20 GABRG2 NM_000816.3(GABRG2): c.1212C> T (p.Tyr404=) single nucleotide variant Benign/Likely benign rs749951528 GRCh37 Chromosome 5, 161580182: 161580182
21 GABRG2 NM_000816.3(GABRG2): c.1336C> T (p.Arg446Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs796052515 GRCh38 Chromosome 5, 162153300: 162153300
22 GABRG2 NM_000816.3(GABRG2): c.1336C> T (p.Arg446Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs796052515 GRCh37 Chromosome 5, 161580306: 161580306
23 GABRG2 NM_000816.3(GABRG2): c.409T> C (p.Leu137=) single nucleotide variant Benign rs200828542 GRCh38 Chromosome 5, 162097719: 162097719
24 GABRG2 NM_000816.3(GABRG2): c.409T> C (p.Leu137=) single nucleotide variant Benign rs200828542 GRCh37 Chromosome 5, 161524725: 161524725
25 GABRG2 NM_000816.3(GABRG2): c.530delG (p.Arg177Glnfs) deletion Pathogenic rs878854144 GRCh38 Chromosome 5, 162097840: 162097840
26 GABRG2 NM_000816.3(GABRG2): c.530delG (p.Arg177Glnfs) deletion Pathogenic rs878854144 GRCh37 Chromosome 5, 161524846: 161524846
27 GABRG2 NM_000816.3(GABRG2): c.789T> G (p.Ser263=) single nucleotide variant Likely benign rs754514348 GRCh38 Chromosome 5, 162142183: 162142183
28 GABRG2 NM_000816.3(GABRG2): c.789T> G (p.Ser263=) single nucleotide variant Likely benign rs754514348 GRCh37 Chromosome 5, 161569189: 161569189
29 GABRG2 NM_000816.3(GABRG2): c.691G> A (p.Asp231Asn) single nucleotide variant Uncertain significance rs773065895 GRCh37 Chromosome 5, 161530954: 161530954
30 GABRG2 NM_000816.3(GABRG2): c.691G> A (p.Asp231Asn) single nucleotide variant Uncertain significance rs773065895 GRCh38 Chromosome 5, 162103948: 162103948
31 GABRG2 NM_000816.3(GABRG2): c.1296G> A (p.Gly432=) single nucleotide variant Conflicting interpretations of pathogenicity rs150727562 GRCh37 Chromosome 5, 161580266: 161580266
32 GABRG2 NM_000816.3(GABRG2): c.1296G> A (p.Gly432=) single nucleotide variant Conflicting interpretations of pathogenicity rs150727562 GRCh38 Chromosome 5, 162153260: 162153260
33 GABRG2 NM_000816.3(GABRG2): c.135C> T (p.Asp45=) single nucleotide variant Conflicting interpretations of pathogenicity rs375308385 GRCh38 Chromosome 5, 162093855: 162093855
34 GABRG2 NM_000816.3(GABRG2): c.135C> T (p.Asp45=) single nucleotide variant Conflicting interpretations of pathogenicity rs375308385 GRCh37 Chromosome 5, 161520861: 161520861
35 GABRG2 NM_000816.3(GABRG2): c.954C> T (p.Leu318=) single nucleotide variant Likely benign rs749531013 GRCh37 Chromosome 5, 161576145: 161576145
36 GABRG2 NM_000816.3(GABRG2): c.954C> T (p.Leu318=) single nucleotide variant Likely benign rs749531013 GRCh38 Chromosome 5, 162149139: 162149139
37 GABRG2 NM_000816.3(GABRG2): c.1230C> T (p.Asp410=) single nucleotide variant Benign/Likely benign rs113085352 GRCh38 Chromosome 5, 162153194: 162153194
38 GABRG2 NM_000816.3(GABRG2): c.1230C> T (p.Asp410=) single nucleotide variant Benign/Likely benign rs113085352 GRCh37 Chromosome 5, 161580200: 161580200
39 GABRG2 NM_000816.3(GABRG2): c.269C> T (p.Thr90Met) single nucleotide variant Conflicting interpretations of pathogenicity rs1057520498 GRCh37 Chromosome 5, 161522510: 161522510
40 GABRG2 NM_000816.3(GABRG2): c.269C> T (p.Thr90Met) single nucleotide variant Conflicting interpretations of pathogenicity rs1057520498 GRCh38 Chromosome 5, 162095504: 162095504
41 GABRG2 NC_000005.10: g.(?_162101235)_(162155539_?)dup duplication Uncertain significance GRCh38 Chromosome 5, 162101235: 162155539
42 GABRG2 NC_000005.10: g.(?_162101235)_(162155539_?)dup duplication Uncertain significance GRCh37 Chromosome 5, 161528241: 161582545
43 GABRG2 NM_000816.3(GABRG2): c.71C> A (p.Thr24Lys) single nucleotide variant Uncertain significance rs1060501891 GRCh37 Chromosome 5, 161495076: 161495076
44 GABRG2 NM_000816.3(GABRG2): c.71C> A (p.Thr24Lys) single nucleotide variant Uncertain significance rs1060501891 GRCh38 Chromosome 5, 162068070: 162068070
45 GABRG2 NM_000816.3(GABRG2): c.36A> T (p.Ser12=) single nucleotide variant Likely benign rs762058667 GRCh37 Chromosome 5, 161495041: 161495041
46 GABRG2 NM_000816.3(GABRG2): c.36A> T (p.Ser12=) single nucleotide variant Likely benign rs762058667 GRCh38 Chromosome 5, 162068035: 162068035
47 GABRG2 NM_000816.3(GABRG2): c.583C> A (p.His195Asn) single nucleotide variant Uncertain significance rs981863613 GRCh37 Chromosome 5, 161528275: 161528275
48 GABRG2 NM_000816.3(GABRG2): c.583C> A (p.His195Asn) single nucleotide variant Uncertain significance rs981863613 GRCh38 Chromosome 5, 162101269: 162101269
49 GABRG2 NM_000816.3(GABRG2): c.942A> G (p.Thr314=) single nucleotide variant Likely benign rs377502016 GRCh37 Chromosome 5, 161576133: 161576133
50 GABRG2 NM_000816.3(GABRG2): c.942A> G (p.Thr314=) single nucleotide variant Likely benign rs377502016 GRCh38 Chromosome 5, 162149127: 162149127
51 GABRG2 NM_000816.3(GABRG2): c.1025delG (p.Cys342Phefs) deletion Likely pathogenic rs1060501889 GRCh37 Chromosome 5, 161576216: 161576216
52 GABRG2 NM_000816.3(GABRG2): c.1025delG (p.Cys342Phefs) deletion Likely pathogenic rs1060501889 GRCh38 Chromosome 5, 162149210: 162149210
53 GABRG2 NM_000816.3(GABRG2): c.1171A> G (p.Met391Val) single nucleotide variant Likely benign rs753097258 GRCh37 Chromosome 5, 161580141: 161580141
54 GABRG2 NM_000816.3(GABRG2): c.1171A> G (p.Met391Val) single nucleotide variant Likely benign rs753097258 GRCh38 Chromosome 5, 162153135: 162153135
55 GABRG2 NM_000816.3(GABRG2): c.1007A> G (p.Asp336Gly) single nucleotide variant Uncertain significance rs1060501890 GRCh38 Chromosome 5, 162149192: 162149192
56 GABRG2 NM_000816.3(GABRG2): c.1007A> G (p.Asp336Gly) single nucleotide variant Uncertain significance rs1060501890 GRCh37 Chromosome 5, 161576198: 161576198
57 GABRG2 NM_000816.3(GABRG2): c.1061G> T (p.Gly354Val) single nucleotide variant Likely pathogenic rs1060501888 GRCh38 Chromosome 5, 162149246: 162149246
58 GABRG2 NM_000816.3(GABRG2): c.1061G> T (p.Gly354Val) single nucleotide variant Likely pathogenic rs1060501888 GRCh37 Chromosome 5, 161576252: 161576252
59 GABRG2 NC_000005.10: g.(?_162142144)_(162153388_?)del deletion Likely pathogenic GRCh38 Chromosome 5, 162142144: 162153388
60 GABRG2 NM_000816.3(GABRG2): c.770-7G> A single nucleotide variant Likely benign rs751069405 GRCh38 Chromosome 5, 162142157: 162142157
61 GABRG2 NM_000816.3(GABRG2): c.770-7G> A single nucleotide variant Likely benign rs751069405 GRCh37 Chromosome 5, 161569163: 161569163
62 GABRG2 NM_000816.3(GABRG2): c.365A> G (p.Tyr122Cys) single nucleotide variant Uncertain significance rs1554097875 GRCh37 Chromosome 5, 161524681: 161524681
63 GABRG2 NM_000816.3(GABRG2): c.365A> G (p.Tyr122Cys) single nucleotide variant Uncertain significance rs1554097875 GRCh38 Chromosome 5, 162097675: 162097675
64 GABRG2 NM_000816.3(GABRG2): c.608C> G (p.Ser203Cys) single nucleotide variant Uncertain significance rs1334273668 GRCh37 Chromosome 5, 161528300: 161528300
65 GABRG2 NM_000816.3(GABRG2): c.608C> G (p.Ser203Cys) single nucleotide variant Uncertain significance rs1334273668 GRCh38 Chromosome 5, 162101294: 162101294
66 GABRG2 NM_000816.3(GABRG2): c.1129-2A> G single nucleotide variant Likely pathogenic rs1554101185 GRCh37 Chromosome 5, 161580097: 161580097
67 GABRG2 NM_000816.3(GABRG2): c.1129-2A> G single nucleotide variant Likely pathogenic rs1554101185 GRCh38 Chromosome 5, 162153091: 162153091
68 GABRG2 NM_000816.3(GABRG2): c.817G> T (p.Gly273Ter) single nucleotide variant Pathogenic rs1469287853 GRCh38 Chromosome 5, 162142211: 162142211
69 GABRG2 NM_000816.3(GABRG2): c.817G> T (p.Gly273Ter) single nucleotide variant Pathogenic rs1469287853 GRCh37 Chromosome 5, 161569217: 161569217
70 GABRG2 NM_000816.3(GABRG2): c.927C> G (p.Ile309Met) single nucleotide variant Uncertain significance rs1554100910 GRCh37 Chromosome 5, 161576118: 161576118
71 GABRG2 NM_000816.3(GABRG2): c.927C> G (p.Ile309Met) single nucleotide variant Uncertain significance rs1554100910 GRCh38 Chromosome 5, 162149112: 162149112
72 GABRG2 NM_000816.3(GABRG2): c.84G> C (p.Leu28=) single nucleotide variant Likely benign rs1554096092 GRCh38 Chromosome 5, 162068083: 162068083
73 GABRG2 NM_000816.3(GABRG2): c.84G> C (p.Leu28=) single nucleotide variant Likely benign rs1554096092 GRCh37 Chromosome 5, 161495089: 161495089
74 GABRG2 NM_000816.3(GABRG2): c.677_681delCTGTT (p.Ser226Terfs) deletion Pathogenic rs1554098222 GRCh38 Chromosome 5, 162103934: 162103938
75 GABRG2 NM_000816.3(GABRG2): c.677_681delCTGTT (p.Ser226Terfs) deletion Pathogenic rs1554098222 GRCh37 Chromosome 5, 161530940: 161530944
76 GABRG2 NM_000816.3(GABRG2): c.1129-8C> T single nucleotide variant Likely benign rs771660227 GRCh38 Chromosome 5, 162153085: 162153085
77 GABRG2 NM_000816.3(GABRG2): c.1129-8C> T single nucleotide variant Likely benign rs771660227 GRCh37 Chromosome 5, 161580091: 161580091
78 GABRG2 NM_000816.3(GABRG2): c.17T> C (p.Ile6Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 162068016: 162068016
79 GABRG2 NM_000816.3(GABRG2): c.17T> C (p.Ile6Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 161495022: 161495022
80 GABRG2 NM_000816.3(GABRG2): c.191G> A (p.Gly64Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 162093911: 162093911
81 GABRG2 NM_000816.3(GABRG2): c.191G> A (p.Gly64Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 161520917: 161520917
82 GABRG2 NM_000816.3(GABRG2): c.579A> G (p.Gln193=) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 161528271: 161528271
83 GABRG2 NM_000816.3(GABRG2): c.579A> G (p.Gln193=) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 162101265: 162101265
84 GABRG2 NM_000816.3(GABRG2): c.952C> G (p.Leu318Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 162149137: 162149137
85 GABRG2 NM_000816.3(GABRG2): c.952C> G (p.Leu318Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 161576143: 161576143
86 GABRG2 NM_000816.3(GABRG2): c.353C> T (p.Ala118Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 162097663: 162097663
87 GABRG2 NM_000816.3(GABRG2): c.353C> T (p.Ala118Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 161524669: 161524669
88 GABRG2 NM_000816.3(GABRG2): c.530G> A (p.Arg177Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 162097840: 162097840
89 GABRG2 NM_000816.3(GABRG2): c.530G> A (p.Arg177Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 161524846: 161524846
90 GABRG2 NM_000816.3(GABRG2): c.644G> C (p.Arg215Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 161530907: 161530907
91 GABRG2 NM_000816.3(GABRG2): c.644G> C (p.Arg215Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 162103901: 162103901
92 GABRG2 NM_198903.2(GABRG2): c.810C> A (p.Gly270=) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 161530953: 161530953
93 GABRG2 NM_198903.2(GABRG2): c.810C> A (p.Gly270=) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 162103947: 162103947

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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