MCID: GNR041
MIFTS: 21

Generalized Epilepsy with Febrile Seizures Plus, Type 3

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Generalized Epilepsy with Febrile Seizures Plus, Type 3

MalaCards integrated aliases for Generalized Epilepsy with Febrile Seizures Plus, Type 3:

Name: Generalized Epilepsy with Febrile Seizures Plus, Type 3 57 73
Generalized Epilepsy with Febrile Seizures Plus 3 75 29 6
Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 57 13
Febrile Seizures, Familial, 8 57 75
Familial Febrile Seizures 8 29 6
Gefsp3 57 75
Gefs+3 57 75
Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 ) 40
Familial Febrile Convulsions 8 75
Gefs+, Type 3; Gefs+3 57
Gefs+, Type 3 57
Gefs+ Type 3 75
Feb8 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset of febrile seizures typically between 6 months and 6 years of age
simple febrile seizures usually remit by age 6 years
some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+)


HPO:

32
generalized epilepsy with febrile seizures plus, type 3:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Generalized Epilepsy with Febrile Seizures Plus, Type 3

UniProtKB/Swiss-Prot : 75 Febrile seizures, familial, 8: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. Generalized epilepsy with febrile seizures plus 3: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.

MalaCards based summary : Generalized Epilepsy with Febrile Seizures Plus, Type 3, is also known as generalized epilepsy with febrile seizures plus 3, and has symptoms including absence seizures An important gene associated with Generalized Epilepsy with Febrile Seizures Plus, Type 3 is GABRG2 (Gamma-Aminobutyric Acid Type A Receptor Gamma2 Subunit). Related phenotypes are generalized tonic-clonic seizures and absence seizures

OMIM : 57 Mutations in the GABRG2 gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 3, which represents a more severe phenotype. Patients with isolated febrile seizures usually have onset in the first year of life and show spontaneous remission by age 6 years, whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by Singh et al., 1999). Mutation in the GABRG2 gene can also cause childhood absence epilepsy (ECA2; 607681). Mutations in certain genes can cause a phenotypic spectrum of overlap between the isolated febrile phenotype and the GEFS+ phenotype. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233. For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see 121210. (611277)

Related Diseases for Generalized Epilepsy with Febrile Seizures Plus, Type 3

Symptoms & Phenotypes for Generalized Epilepsy with Febrile Seizures Plus, Type 3

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures, generalized, associated with fever
generalized tonic-clonic seizures
afebrile seizures
absence seizures
partial seizures
more

Clinical features from OMIM:

611277

Human phenotypes related to Generalized Epilepsy with Febrile Seizures Plus, Type 3:

32
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 32 HP:0002069
2 absence seizures 32 HP:0002121
3 febrile seizures 32 HP:0002373
4 focal seizures 32 HP:0007359
5 atonic seizures 32 HP:0010819

UMLS symptoms related to Generalized Epilepsy with Febrile Seizures Plus, Type 3:


absence seizures

Drugs & Therapeutics for Generalized Epilepsy with Febrile Seizures Plus, Type 3

Search Clinical Trials , NIH Clinical Center for Generalized Epilepsy with Febrile Seizures Plus, Type 3

Genetic Tests for Generalized Epilepsy with Febrile Seizures Plus, Type 3

Genetic tests related to Generalized Epilepsy with Febrile Seizures Plus, Type 3:

# Genetic test Affiliating Genes
1 Familial Febrile Seizures 8 29 GABRG2
2 Generalized Epilepsy with Febrile Seizures Plus 3 29

Anatomical Context for Generalized Epilepsy with Febrile Seizures Plus, Type 3

Publications for Generalized Epilepsy with Febrile Seizures Plus, Type 3

Variations for Generalized Epilepsy with Febrile Seizures Plus, Type 3

UniProtKB/Swiss-Prot genetic disease variations for Generalized Epilepsy with Febrile Seizures Plus, Type 3:

75
# Symbol AA change Variation ID SNP ID
1 GABRG2 p.Arg82Gln VAR_014265 rs121909673
2 GABRG2 p.Lys328Met VAR_014266 rs121909672
3 GABRG2 p.Arg177Gly VAR_038602 rs267606837
4 GABRG2 p.Arg323Gln VAR_078620 rs397514737

ClinVar genetic disease variations for Generalized Epilepsy with Febrile Seizures Plus, Type 3:

6
(show top 50) (show all 74)
# Gene Variation Type Significance SNP ID Assembly Location
1 GABRG2 NM_198903.2(GABRG2): c.1103A> T (p.Lys368Met) single nucleotide variant Pathogenic rs121909672 GRCh37 Chromosome 5, 161576174: 161576174
2 GABRG2 NM_198903.2(GABRG2): c.1103A> T (p.Lys368Met) single nucleotide variant Pathogenic rs121909672 GRCh38 Chromosome 5, 162149168: 162149168
3 GABRG2 NM_000816.3(GABRG2): c.245G> A (p.Arg82Gln) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs121909673 GRCh37 Chromosome 5, 161520971: 161520971
4 GABRG2 NM_000816.3(GABRG2): c.245G> A (p.Arg82Gln) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs121909673 GRCh38 Chromosome 5, 162093965: 162093965
5 GABRG2 NM_198903.2(GABRG2): c.1312C> T (p.Gln438Ter) single nucleotide variant Pathogenic rs121909674 GRCh37 Chromosome 5, 161580138: 161580138
6 GABRG2 NM_198903.2(GABRG2): c.1312C> T (p.Gln438Ter) single nucleotide variant Pathogenic rs121909674 GRCh38 Chromosome 5, 162153132: 162153132
7 GABRG2 GABRG2, IVS6DS, T-G, +2 single nucleotide variant Pathogenic,risk factor
8 GABRG2 NM_198903.2(GABRG2): c.529C> G (p.Arg177Gly) single nucleotide variant Pathogenic rs267606837 GRCh37 Chromosome 5, 161524845: 161524845
9 GABRG2 NM_198903.2(GABRG2): c.529C> G (p.Arg177Gly) single nucleotide variant Pathogenic rs267606837 GRCh38 Chromosome 5, 162097839: 162097839
10 GABRG2 NM_000816.3(GABRG2): c.968G> A (p.Arg323Gln) single nucleotide variant Pathogenic rs397514737 GRCh37 Chromosome 5, 161576159: 161576159
11 GABRG2 NM_000816.3(GABRG2): c.968G> A (p.Arg323Gln) single nucleotide variant Pathogenic rs397514737 GRCh38 Chromosome 5, 162149153: 162149153
12 GABRG2 NM_000816.3(GABRG2): c.316G> A (p.Ala106Thr) single nucleotide variant Pathogenic/Likely pathogenic rs796052505 GRCh37 Chromosome 5, 161522557: 161522557
13 GABRG2 NM_000816.3(GABRG2): c.316G> A (p.Ala106Thr) single nucleotide variant Pathogenic/Likely pathogenic rs796052505 GRCh38 Chromosome 5, 162095551: 162095551
14 GABRG2 NM_000816.3(GABRG2): c.967C> T (p.Arg323Trp) single nucleotide variant Uncertain significance rs796052510 GRCh38 Chromosome 5, 162149152: 162149152
15 GABRG2 NM_000816.3(GABRG2): c.967C> T (p.Arg323Trp) single nucleotide variant Uncertain significance rs796052510 GRCh37 Chromosome 5, 161576158: 161576158
16 GABRG2 NM_000816.3(GABRG2): c.1088G> A (p.Arg363Gln) single nucleotide variant Uncertain significance rs780199000 GRCh38 Chromosome 5, 162149273: 162149273
17 GABRG2 NM_000816.3(GABRG2): c.1088G> A (p.Arg363Gln) single nucleotide variant Uncertain significance rs780199000 GRCh37 Chromosome 5, 161576279: 161576279
18 GABRG2 NM_000816.3(GABRG2): c.1212C> T (p.Tyr404=) single nucleotide variant Benign/Likely benign rs749951528 GRCh38 Chromosome 5, 162153176: 162153176
19 GABRG2 NM_000816.3(GABRG2): c.1212C> T (p.Tyr404=) single nucleotide variant Benign/Likely benign rs749951528 GRCh37 Chromosome 5, 161580182: 161580182
20 GABRG2 NM_000816.3(GABRG2): c.1336C> T (p.Arg446Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs796052515 GRCh38 Chromosome 5, 162153300: 162153300
21 GABRG2 NM_000816.3(GABRG2): c.1336C> T (p.Arg446Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs796052515 GRCh37 Chromosome 5, 161580306: 161580306
22 GABRG2 NM_000816.3(GABRG2): c.409T> C (p.Leu137=) single nucleotide variant Benign rs200828542 GRCh38 Chromosome 5, 162097719: 162097719
23 GABRG2 NM_000816.3(GABRG2): c.409T> C (p.Leu137=) single nucleotide variant Benign rs200828542 GRCh37 Chromosome 5, 161524725: 161524725
24 GABRG2 NM_000816.3(GABRG2): c.530delG (p.Arg177Glnfs) deletion Pathogenic rs878854144 GRCh38 Chromosome 5, 162097840: 162097840
25 GABRG2 NM_000816.3(GABRG2): c.530delG (p.Arg177Glnfs) deletion Pathogenic rs878854144 GRCh37 Chromosome 5, 161524846: 161524846
26 GABRG2 NM_000816.3(GABRG2): c.789T> G (p.Ser263=) single nucleotide variant Likely benign rs754514348 GRCh38 Chromosome 5, 162142183: 162142183
27 GABRG2 NM_000816.3(GABRG2): c.789T> G (p.Ser263=) single nucleotide variant Likely benign rs754514348 GRCh37 Chromosome 5, 161569189: 161569189
28 GABRG2 NM_000816.3(GABRG2): c.1296G> A (p.Gly432=) single nucleotide variant Conflicting interpretations of pathogenicity rs150727562 GRCh37 Chromosome 5, 161580266: 161580266
29 GABRG2 NM_000816.3(GABRG2): c.1296G> A (p.Gly432=) single nucleotide variant Conflicting interpretations of pathogenicity rs150727562 GRCh38 Chromosome 5, 162153260: 162153260
30 GABRG2 NM_000816.3(GABRG2): c.135C> T (p.Asp45=) single nucleotide variant Conflicting interpretations of pathogenicity rs375308385 GRCh37 Chromosome 5, 161520861: 161520861
31 GABRG2 NM_000816.3(GABRG2): c.135C> T (p.Asp45=) single nucleotide variant Conflicting interpretations of pathogenicity rs375308385 GRCh38 Chromosome 5, 162093855: 162093855
32 GABRG2 NM_000816.3(GABRG2): c.954C> T (p.Leu318=) single nucleotide variant Likely benign rs749531013 GRCh37 Chromosome 5, 161576145: 161576145
33 GABRG2 NM_000816.3(GABRG2): c.954C> T (p.Leu318=) single nucleotide variant Likely benign rs749531013 GRCh38 Chromosome 5, 162149139: 162149139
34 GABRG2 NM_000816.3(GABRG2): c.1230C> T (p.Asp410=) single nucleotide variant Benign/Likely benign rs113085352 GRCh37 Chromosome 5, 161580200: 161580200
35 GABRG2 NM_000816.3(GABRG2): c.1230C> T (p.Asp410=) single nucleotide variant Benign/Likely benign rs113085352 GRCh38 Chromosome 5, 162153194: 162153194
36 GABRG2 NC_000005.10: g.(?_162101235)_(162155539_?)dup duplication Uncertain significance GRCh38 Chromosome 5, 162101235: 162155539
37 GABRG2 NC_000005.10: g.(?_162101235)_(162155539_?)dup duplication Uncertain significance GRCh37 Chromosome 5, 161528241: 161582545
38 GABRG2 NM_000816.3(GABRG2): c.71C> A (p.Thr24Lys) single nucleotide variant Uncertain significance rs1060501891 GRCh37 Chromosome 5, 161495076: 161495076
39 GABRG2 NM_000816.3(GABRG2): c.71C> A (p.Thr24Lys) single nucleotide variant Uncertain significance rs1060501891 GRCh38 Chromosome 5, 162068070: 162068070
40 GABRG2 NM_000816.3(GABRG2): c.36A> T (p.Ser12=) single nucleotide variant Likely benign rs762058667 GRCh37 Chromosome 5, 161495041: 161495041
41 GABRG2 NM_000816.3(GABRG2): c.36A> T (p.Ser12=) single nucleotide variant Likely benign rs762058667 GRCh38 Chromosome 5, 162068035: 162068035
42 GABRG2 NM_000816.3(GABRG2): c.583C> A (p.His195Asn) single nucleotide variant Uncertain significance rs981863613 GRCh37 Chromosome 5, 161528275: 161528275
43 GABRG2 NM_000816.3(GABRG2): c.583C> A (p.His195Asn) single nucleotide variant Uncertain significance rs981863613 GRCh38 Chromosome 5, 162101269: 162101269
44 GABRG2 NM_000816.3(GABRG2): c.942A> G (p.Thr314=) single nucleotide variant Likely benign rs377502016 GRCh37 Chromosome 5, 161576133: 161576133
45 GABRG2 NM_000816.3(GABRG2): c.942A> G (p.Thr314=) single nucleotide variant Likely benign rs377502016 GRCh38 Chromosome 5, 162149127: 162149127
46 GABRG2 NM_000816.3(GABRG2): c.1025delG (p.Cys342Phefs) deletion Likely pathogenic rs1060501889 GRCh37 Chromosome 5, 161576216: 161576216
47 GABRG2 NM_000816.3(GABRG2): c.1025delG (p.Cys342Phefs) deletion Likely pathogenic rs1060501889 GRCh38 Chromosome 5, 162149210: 162149210
48 GABRG2 NM_000816.3(GABRG2): c.1171A> G (p.Met391Val) single nucleotide variant Likely benign rs753097258 GRCh37 Chromosome 5, 161580141: 161580141
49 GABRG2 NM_000816.3(GABRG2): c.1171A> G (p.Met391Val) single nucleotide variant Likely benign rs753097258 GRCh38 Chromosome 5, 162153135: 162153135
50 GABRG2 NM_000816.3(GABRG2): c.1007A> G (p.Asp336Gly) single nucleotide variant Uncertain significance rs1060501890 GRCh38 Chromosome 5, 162149192: 162149192

Expression for Generalized Epilepsy with Febrile Seizures Plus, Type 3

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