FEB8
MCID: GNR041
MIFTS: 24

Generalized Epilepsy with Febrile Seizures Plus, Type 3 (FEB8)

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 58 74
Generalized Epilepsy with Febrile Seizures Plus 3 76 30 6
Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 58 13
Febrile Seizures, Familial, 8 58 76
Familial Febrile Seizures 8 30 6
Gefsp3 58 76
Gefs+3 58 76
Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 ) 41
Familial Febrile Convulsions 8 76
Gefs+, Type 3; Gefs+3 58
Gefs+, Type 3 58
Gefs+ Type 3 76
Feb8 76

Characteristics:

OMIM:

58
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:

33
generalized epilepsy with febrile seizures plus, type 3:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Generalized Epilepsy with Febrile Seizures Plus, Type 3

UniProtKB/Swiss-Prot : 76 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 seizure

OMIM : 58 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

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

33
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 33 HP:0002069
2 absence seizure 33 HP:0002121
3 febrile seizures 33 HP:0002373
4 focal-onset seizure 33 HP:0007359
5 atonic seizures 33 HP:0010819

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
generalized tonic-clonic seizures
atonic seizures
absence seizures
seizures, generalized, associated with fever
afebrile seizures
more

Clinical features from OMIM:

611277

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 30 GABRG2
2 Generalized Epilepsy with Febrile Seizures Plus 3 30

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

Publications for Generalized Epilepsy with Febrile Seizures Plus, Type 3

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

(show all 12)
# Title Authors Year
1
De novo GABRG2 mutations associated with epileptic encephalopathies. ( 27864268 )
2017
2
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. ( 23708187 )
2013
3
Agonist-dependent endocytosis of γ-aminobutyric acid type A (GABAA) receptors revealed by a γ2(R43Q) epilepsy mutation. ( 23935098 )
2013
4
A gamma 2(R43Q) mutation, linked to epilepsy in humans, alters GABAA receptor assembly and modifies subunit composition on the cell surface. ( 17148443 )
2007
5
Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies. ( 16510738 )
2006
6
A novel GABRG2 mutation associated with febrile seizures. ( 16924025 )
2006
7
A GABAA receptor mutation linked to human epilepsy (gamma2R43Q) impairs cell surface expression of alphabetagamma receptors. ( 15342642 )
2004
8
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. ( 12117362 )
2002
9
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. ( 11748509 )
2002
10
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. ( 11326275 )
2001
11
First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. ( 11326274 )
2001
12
Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. ( 9894880 )
1999

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:

76
# 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 107)
# 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 NM_198903.2(GABRG2): c.889+2T> G single nucleotide variant Pathogenic,risk factor GRCh38 Chromosome 5, 162104028: 162104028
8 GABRG2 NM_198903.2(GABRG2): c.889+2T> G single nucleotide variant Pathogenic,risk factor GRCh37 Chromosome 5, 161531034: 161531034
9 GABRG2 NM_198903.2(GABRG2): c.529C> G (p.Arg177Gly) single nucleotide variant Pathogenic rs267606837 GRCh37 Chromosome 5, 161524845: 161524845
10 GABRG2 NM_198903.2(GABRG2): c.529C> G (p.Arg177Gly) single nucleotide variant Pathogenic rs267606837 GRCh38 Chromosome 5, 162097839: 162097839
11 GABRG2 NM_000816.3(GABRG2): c.968G> A (p.Arg323Gln) single nucleotide variant Pathogenic rs397514737 GRCh37 Chromosome 5, 161576159: 161576159
12 GABRG2 NM_000816.3(GABRG2): c.968G> A (p.Arg323Gln) single nucleotide variant Pathogenic rs397514737 GRCh38 Chromosome 5, 162149153: 162149153
13 GABRG2 NM_000816.3(GABRG2): c.588C> T (p.Asn196=) single nucleotide variant Benign rs211037 GRCh37 Chromosome 5, 161528280: 161528280
14 GABRG2 NM_000816.3(GABRG2): c.588C> T (p.Asn196=) single nucleotide variant Benign rs211037 GRCh38 Chromosome 5, 162101274: 162101274
15 GABRG2 NM_000816.3(GABRG2): c.315C> T (p.Asn105=) single nucleotide variant Benign rs11135176 GRCh37 Chromosome 5, 161522556: 161522556
16 GABRG2 NM_000816.3(GABRG2): c.315C> T (p.Asn105=) single nucleotide variant Benign rs11135176 GRCh38 Chromosome 5, 162095550: 162095550
17 GABRG2 NM_000816.3(GABRG2): c.354G> A (p.Ala118=) single nucleotide variant Benign/Likely benign rs61735412 GRCh37 Chromosome 5, 161524670: 161524670
18 GABRG2 NM_000816.3(GABRG2): c.354G> A (p.Ala118=) single nucleotide variant Benign/Likely benign rs61735412 GRCh38 Chromosome 5, 162097664: 162097664
19 GABRG2 NM_000816.3(GABRG2): c.717A> G (p.Gln239=) single nucleotide variant Benign/Likely benign rs78261481 GRCh37 Chromosome 5, 161530980: 161530980
20 GABRG2 NM_000816.3(GABRG2): c.717A> G (p.Gln239=) single nucleotide variant Benign/Likely benign rs78261481 GRCh38 Chromosome 5, 162103974: 162103974
21 GABRG2 NM_000816.3(GABRG2): c.360G> A (p.Thr120=) single nucleotide variant Benign rs77298346 GRCh38 Chromosome 5, 162097670: 162097670
22 GABRG2 NM_000816.3(GABRG2): c.360G> A (p.Thr120=) single nucleotide variant Benign rs77298346 GRCh37 Chromosome 5, 161524676: 161524676
23 GABRG2 NM_000816.3(GABRG2): c.316G> A (p.Ala106Thr) single nucleotide variant Pathogenic/Likely pathogenic rs796052505 GRCh37 Chromosome 5, 161522557: 161522557
24 GABRG2 NM_000816.3(GABRG2): c.316G> A (p.Ala106Thr) single nucleotide variant Pathogenic/Likely pathogenic rs796052505 GRCh38 Chromosome 5, 162095551: 162095551
25 GABRG2 NM_000816.3(GABRG2): c.967C> T (p.Arg323Trp) single nucleotide variant Uncertain significance rs796052510 GRCh38 Chromosome 5, 162149152: 162149152
26 GABRG2 NM_000816.3(GABRG2): c.967C> T (p.Arg323Trp) single nucleotide variant Uncertain significance rs796052510 GRCh37 Chromosome 5, 161576158: 161576158
27 GABRG2 NM_000816.3(GABRG2): c.1088G> A (p.Arg363Gln) single nucleotide variant Uncertain significance rs780199000 GRCh38 Chromosome 5, 162149273: 162149273
28 GABRG2 NM_000816.3(GABRG2): c.1088G> A (p.Arg363Gln) single nucleotide variant Uncertain significance rs780199000 GRCh37 Chromosome 5, 161576279: 161576279
29 GABRG2 NM_000816.3(GABRG2): c.1112A> C (p.Lys371Thr) single nucleotide variant Uncertain significance rs796052512 GRCh38 Chromosome 5, 162149297: 162149297
30 GABRG2 NM_000816.3(GABRG2): c.1112A> C (p.Lys371Thr) single nucleotide variant Uncertain significance rs796052512 GRCh37 Chromosome 5, 161576303: 161576303
31 GABRG2 NM_000816.3(GABRG2): c.1212C> T (p.Tyr404=) single nucleotide variant Benign/Likely benign rs749951528 GRCh38 Chromosome 5, 162153176: 162153176
32 GABRG2 NM_000816.3(GABRG2): c.1212C> T (p.Tyr404=) single nucleotide variant Benign/Likely benign rs749951528 GRCh37 Chromosome 5, 161580182: 161580182
33 GABRG2 NM_000816.3(GABRG2): c.1336C> T (p.Arg446Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs796052515 GRCh38 Chromosome 5, 162153300: 162153300
34 GABRG2 NM_000816.3(GABRG2): c.1336C> T (p.Arg446Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs796052515 GRCh37 Chromosome 5, 161580306: 161580306
35 GABRG2 NM_000816.3(GABRG2): c.409T> C (p.Leu137=) single nucleotide variant Benign rs200828542 GRCh38 Chromosome 5, 162097719: 162097719
36 GABRG2 NM_000816.3(GABRG2): c.409T> C (p.Leu137=) single nucleotide variant Benign rs200828542 GRCh37 Chromosome 5, 161524725: 161524725
37 GABRG2 NM_000816.3(GABRG2): c.530delG (p.Arg177Glnfs) deletion Pathogenic rs878854144 GRCh38 Chromosome 5, 162097840: 162097840
38 GABRG2 NM_000816.3(GABRG2): c.530delG (p.Arg177Glnfs) deletion Pathogenic rs878854144 GRCh37 Chromosome 5, 161524846: 161524846
39 GABRG2 NM_000816.3(GABRG2): c.789T> G (p.Ser263=) single nucleotide variant Likely benign rs754514348 GRCh38 Chromosome 5, 162142183: 162142183
40 GABRG2 NM_000816.3(GABRG2): c.789T> G (p.Ser263=) single nucleotide variant Likely benign rs754514348 GRCh37 Chromosome 5, 161569189: 161569189
41 GABRG2 NM_000816.3(GABRG2): c.691G> A (p.Asp231Asn) single nucleotide variant Uncertain significance rs773065895 GRCh37 Chromosome 5, 161530954: 161530954
42 GABRG2 NM_000816.3(GABRG2): c.691G> A (p.Asp231Asn) single nucleotide variant Uncertain significance rs773065895 GRCh38 Chromosome 5, 162103948: 162103948
43 GABRG2 NM_000816.3(GABRG2): c.1296G> A (p.Gly432=) single nucleotide variant Conflicting interpretations of pathogenicity rs150727562 GRCh37 Chromosome 5, 161580266: 161580266
44 GABRG2 NM_000816.3(GABRG2): c.1296G> A (p.Gly432=) single nucleotide variant Conflicting interpretations of pathogenicity rs150727562 GRCh38 Chromosome 5, 162153260: 162153260
45 GABRG2 NM_000816.3(GABRG2): c.135C> T (p.Asp45=) single nucleotide variant Conflicting interpretations of pathogenicity rs375308385 GRCh38 Chromosome 5, 162093855: 162093855
46 GABRG2 NM_000816.3(GABRG2): c.135C> T (p.Asp45=) single nucleotide variant Conflicting interpretations of pathogenicity rs375308385 GRCh37 Chromosome 5, 161520861: 161520861
47 GABRG2 NM_000816.3(GABRG2): c.954C> T (p.Leu318=) single nucleotide variant Likely benign rs749531013 GRCh37 Chromosome 5, 161576145: 161576145
48 GABRG2 NM_000816.3(GABRG2): c.954C> T (p.Leu318=) single nucleotide variant Likely benign rs749531013 GRCh38 Chromosome 5, 162149139: 162149139
49 GABRG2 NM_000816.3(GABRG2): c.1230C> T (p.Asp410=) single nucleotide variant Benign/Likely benign rs113085352 GRCh38 Chromosome 5, 162153194: 162153194
50 GABRG2 NM_000816.3(GABRG2): c.1230C> T (p.Asp410=) single nucleotide variant Benign/Likely benign rs113085352 GRCh37 Chromosome 5, 161580200: 161580200

Expression for Generalized Epilepsy with Febrile Seizures Plus, Type 3

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Pathways for Generalized Epilepsy with Febrile Seizures Plus, Type 3

GO Terms for Generalized Epilepsy with Febrile Seizures Plus, Type 3

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