GEFSP2
MCID: GNR039
MIFTS: 47

Generalized Epilepsy with Febrile Seizures Plus, Type 2 (GEFSP2)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Generalized Epilepsy with Febrile Seizures Plus, Type 2

MalaCards integrated aliases for Generalized Epilepsy with Febrile Seizures Plus, Type 2:

Name: Generalized Epilepsy with Febrile Seizures Plus, Type 2 57 29 6 70
Febrile Seizures, Familial, 3a 57 72 29 6
Epilepsy, Generalized, with Febrile Seizures Plus, Type 2 57 13 39
Generalized Epilepsy with Febrile Seizures Plus 2 12 72 15
Gefsp2 57 12 72
Gefs+2 57 12 72
Generalised Epilepsy with Febrile Seizures Plus Type 2 12
Generalized Epilepsy with Febrile Seizures Plus Type 2 12
Generalised Epilepsy with Febrile Seizures Plus 2 12
Febrile Convulsions, Familial, 3a 70
Familial Febrile Convulsions 3 72
Gefs+, Type 2; Gefs+2 57
Gefs+, Type 2 57
Gefs+ Type 2 72
Feb3a 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
seizures recur in 33% of patients
between 2 and 7% of children will develop afebrile seizure disorders later in life
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:

31
generalized epilepsy with febrile seizures plus, type 2:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111294
OMIM® 57 604403
OMIM Phenotypic Series 57 PS121210 PS604233
UMLS 70 C1858673 C2751756

Summaries for Generalized Epilepsy with Febrile Seizures Plus, Type 2

UniProtKB/Swiss-Prot : 72 Febrile seizures, familial, 3A: 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 2: 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 2, also known as febrile seizures, familial, 3a, is related to genetic epilepsy with febrile seizures plus and generalized epilepsy with febrile seizures plus, type 7, and has symptoms including myoclonic seizures and absence seizures. An important gene associated with Generalized Epilepsy with Febrile Seizures Plus, Type 2 is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are G-Beta Gamma Signaling and Cardiac conduction. Related phenotypes are atonic seizure and bilateral tonic-clonic seizure

Disease Ontology : 12 A generalized epilepsy with febrile seizures plus that has material basis in heterozygous mutation in SCN1A on chromosome 2q24.3.

OMIM® : 57 Generalized epilepsy with febrile seizures plus, type 2 (GEFSP2) is an autosomal dominant neurologic disorder characterized by the onset of seizures associated with fever in the first months or years of life. Affected individuals continue to have various types of febrile and afebrile seizures later in life, including generalized tonic-clonic seizures (GTCS). Some patients may have offset of seizures in the first or second decades; rare patients may have mildly impaired intellectual development. In contrast, patients with isolated febrile seizures (FEB3A) have onset between ages 6 months and 4 years, show spontaneous remission by age 6 years, and have normal cognition. Mutations in the SCN1A gene thus cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 2, which represents a more severe phenotype (summary by Scheffer and Berkovic, 1997 and Mantegazza et al., 2005). 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. (604403) (Updated 05-Apr-2021)

Related Diseases for Generalized Epilepsy with Febrile Seizures Plus, Type 2

Diseases in the Generalized Epilepsy with Febrile Seizures Plus family:

Generalized Epilepsy with Febrile Seizures Plus, Type 1 Generalized Epilepsy with Febrile Seizures Plus, Type 2
Generalized Epilepsy with Febrile Seizures Plus, Type 4 Generalized Epilepsy with Febrile Seizures Plus, Type 6
Generalized Epilepsy with Febrile Seizures Plus, Type 8 Generalized Epilepsy with Febrile Seizures Plus, Type 7
Generalized Epilepsy with Febrile Seizures Plus, Type 9 Generalized Epilepsy with Febrile Seizures Plus, Type 10

Diseases related to Generalized Epilepsy with Febrile Seizures Plus, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 genetic epilepsy with febrile seizures plus 30.7 SCN9A SCN1A LOC102724058
2 generalized epilepsy with febrile seizures plus, type 7 30.6 TBC1D22A SCN9A SCN1B SCN1A LOC102724058 GABRG2
3 seizure disorder 30.6 SCN1B SCN1A LOC102724058 GABRG2
4 febrile seizures 29.8 SCN9A SCN1B SCN1A LOC102724058 GABRG2 GABRD
5 generalized epilepsy with febrile seizures plus 29.4 SCN9A SCN1B SCN1A SCN11A LOC102724058 GABRG2
6 early infantile epileptic encephalopathy 28.6 SLC9A6 SCN9A SCN1B SCN1A SCN11A LOC102724058
7 developmental and epileptic encephalopathy 10.4
8 ohtahara syndrome 10.4
9 megalencephaly, autosomal dominant 10.3 SCN1A LOC102724058
10 megalencephaly 10.3 SCN1A LOC102724058
11 scn1a seizure disorders 10.2 SCN1A LOC102724058
12 plagiocephaly 10.2 SCN1A LOC102724058
13 reflex epilepsy 10.2 SCN1A GABRG2
14 developmental and epileptic encephalopathy 13 10.2 SCN1B SCN1A
15 neuronal migration disorders 10.2 SCN1A LOC102724058
16 landau-kleffner syndrome 10.2 SCN1A GABRG2
17 hemimegalencephaly 10.2 SCN1A LOC102724058
18 verbal auditory agnosia 10.2 SCN1B GABRG2
19 juvenile absence epilepsy 10.2 SCN1A GABRG2
20 infancy electroclinical syndrome 10.2 SCN1B SCN1A
21 benign neonatal seizures 10.1 SCN1B SCN1A
22 sturge-weber syndrome 10.1 SCN1A GABRG2
23 long qt syndrome 3 10.1 SCN1B SCN1A
24 myoclonic epilepsy of infancy 10.1 SCN1A LOC102724058 GABRG2
25 malignant migrating partial seizures of infancy 10.1 SCN1A LOC102724058
26 generalized epilepsy with febrile seizures plus, type 1 10.1 SCN1B SCN1A LOC102724058
27 generalized epilepsy with febrile seizures plus, type 4 10.1 TBC1D22A GABRD
28 febrile seizures, familial, 2 10.1 SCN1B SCN1A GABRG2
29 leukoencephalopathy, hereditary diffuse, with spheroids 10.1 SCN1A LOC102724058
30 early onset absence epilepsy 10.1 SCN1B SCN1A GABRG2
31 epilepsy, nocturnal frontal lobe, 1 10.1 SCN1B SCN1A GABRG2
32 progressive familial heart block, type ia 10.1 SCN9A SCN1A
33 photosensitive epilepsy 10.0 SCN1B SCN1A GABRG2
34 benign familial neonatal epilepsy 10.0 SCN1B SCN1A GABRG2
35 unverricht-lundborg syndrome 10.0 SCN1B SCN1A GABRG2
36 polymicrogyria 10.0 SCN1A LOC102724058
37 hyperkalemic periodic paralysis 10.0 SCN9A SCN1A
38 familial hemiplegic migraine 10.0 SCN1A LOC102724058
39 causalgia 9.9 SCN9A SCN11A
40 episodic pain syndrome, familial, 2 9.9 SCN9A SCN11A
41 indifference to pain, congenital, autosomal recessive 9.9 SCN9A SCN11A
42 episodic pain syndrome, familial, 3 9.9 SCN9A SCN11A
43 migraine, familial hemiplegic, 3 9.9 SCN9A SCN1A LOC102724058
44 sodium channelopathy-related small fiber neuropathy 9.9 SCN9A SCN11A
45 paramyotonia congenita of von eulenburg 9.9 SCN9A SCN1B SCN1A
46 erythermalgia, primary 9.9 SCN9A SCN11A
47 focal epilepsy 9.9 SCN1A LOC102724058 GABRG2 GABRD
48 adolescence-adult electroclinical syndrome 9.8 SCN1B SCN1A GABRG2 GABRD
49 childhood electroclinical syndrome 9.8 SCN1B SCN1A GABRG2 GABRD
50 christianson syndrome 9.8 SLC9A9 SLC9A6

Graphical network of the top 20 diseases related to Generalized Epilepsy with Febrile Seizures Plus, Type 2:



Diseases related to Generalized Epilepsy with Febrile Seizures Plus, Type 2

Symptoms & Phenotypes for Generalized Epilepsy with Febrile Seizures Plus, Type 2

Human phenotypes related to Generalized Epilepsy with Febrile Seizures Plus, Type 2:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 atonic seizure 31 HP:0010819
2 bilateral tonic-clonic seizure 31 HP:0002069
3 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373
4 generalized tonic seizure 31 HP:0010818
5 generalized myoclonic seizure 31 HP:0002123
6 generalized non-motor (absence) seizure 31 HP:0002121
7 focal hemiclonic seizure 31 HP:0006813

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
generalized tonic-clonic seizures
febrile seizures
hemiclonic seizures
myoclonic seizures
absence seizures
more

Clinical features from OMIM®:

604403 (Updated 05-Apr-2021)

UMLS symptoms related to Generalized Epilepsy with Febrile Seizures Plus, Type 2:


myoclonic seizures; absence seizures

MGI Mouse Phenotypes related to Generalized Epilepsy with Febrile Seizures Plus, Type 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.56 GABRD GABRG2 SCN11A SCN1A SCN1B SCN9A
2 nervous system MP:0003631 9.23 GABRD GABRG2 SCN11A SCN1A SCN1B SCN9A

Drugs & Therapeutics for Generalized Epilepsy with Febrile Seizures Plus, Type 2

Search Clinical Trials , NIH Clinical Center for Generalized Epilepsy with Febrile Seizures Plus, Type 2

Genetic Tests for Generalized Epilepsy with Febrile Seizures Plus, Type 2

Genetic tests related to Generalized Epilepsy with Febrile Seizures Plus, Type 2:

# Genetic test Affiliating Genes
1 Febrile Seizures, Familial, 3a 29
2 Generalized Epilepsy with Febrile Seizures Plus, Type 2 29 SCN1A

Anatomical Context for Generalized Epilepsy with Febrile Seizures Plus, Type 2

Publications for Generalized Epilepsy with Febrile Seizures Plus, Type 2

Articles related to Generalized Epilepsy with Febrile Seizures Plus, Type 2:

(show all 35)
# Title Authors PMID Year
1
A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures. 57 6
19289736 2009
2
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy. 6 57
16505326 2006
3
Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures. 57 6
16326807 2005
4
Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. 57 6
11524484 2001
5
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. 57 6
11254444 2001
6
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. 57 6
10742094 2000
7
Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33. 6 57
10521305 1999
8
A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. 6 57
10486327 1999
9
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. 57 6
9126059 1997
10
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 6
32238909 2020
11
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
12
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 6
23195492 2012
13
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. 6
22848613 2012
14
Genotype-phenotype associations in SCN1A-related epilepsies. 6
21248271 2011
15
Sodium channel SCN1A and epilepsy: mutations and mechanisms. 6
20831750 2010
16
Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene. 57
20484682 2010
17
Lack of replication of association between scn1a SNP and febrile seizures. 6
19949041 2009
18
Parental SCN1A mutation mosaicism in familial Dravet syndrome. 6
19673951 2009
19
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. 57
19522081 2009
20
SCN1A Seizure Disorders 6
20301494 2007
21
Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A. 6
17436242 2007
22
A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose. 6
17001291 2006
23
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. 6
16713920 2006
24
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. 6
16541393 2006
25
Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. 6
15805193 2005
26
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. 6
15087100 2004
27
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. 6
12566275 2003
28
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. 6
11756608 2001
29
Seizures in family members of patients with hippocampal sclerosis. 57
11723267 2001
30
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. 6
11254445 2001
31
A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2. 57
10677328 2000
32
A locus for febrile seizures (FEB3) maps to chromosome 2q23-24. 57
10514109 1999
33
A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures. 61
15715999 2005
34
Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels. 61
12535936 2003
35
Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. 61
11567038 2001

Variations for Generalized Epilepsy with Febrile Seizures Plus, Type 2

ClinVar genetic disease variations for Generalized Epilepsy with Febrile Seizures Plus, Type 2:

6 (show top 50) (show all 200)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4057G>C (p.Val1353Leu) SNV Pathogenic 12885 rs121917954 GRCh37: 2:166859209-166859209
GRCh38: 2:166002699-166002699
2 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4968C>G (p.Ile1656Met) SNV Pathogenic 12886 rs121917955 GRCh37: 2:166848817-166848817
GRCh38: 2:165992307-165992307
3 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3809A>C (p.Lys1270Thr) SNV Pathogenic 12891 rs121918626 GRCh37: 2:166868689-166868689
GRCh38: 2:166012179-166012179
4 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4283T>C (p.Val1428Ala) SNV Pathogenic 12892 rs121918627 GRCh37: 2:166858983-166858983
GRCh38: 2:166002473-166002473
5 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe) SNV Pathogenic 12895 rs121918630 GRCh37: 2:166850677-166850677
GRCh38: 2:165994167-165994167
6 SCN1A SCN1A, 1-BP DEL, 2528G Deletion Pathogenic 12898 GRCh37:
GRCh38:
7 SCN1A NM_001165963.4(SCN1A):c.2956_2957CT[1] (p.Phe987fs) Microsatellite Pathogenic 202180 rs794729207 GRCh37: 2:166893030-166893031
GRCh38: 2:166036518-166036519
8 SCN1A NM_006920.6(SCN1A):c.2383-1G>A SNV Pathogenic 522923 rs1553542421 GRCh37: 2:166896107-166896107
GRCh38: 2:166039597-166039597
9 SCN1A and overlap with 1 gene(s) NM_006920.6(SCN1A):c.2583_3173delinsAAGTTGGCAAAA (p.Trp862_Ile1058delinsSerTrpGlnAsn) Indel Pathogenic 690430 GRCh37: 2:166892781-166894616
GRCh38: 2:166036271-166038106
10 SCN1A NM_001165963.4(SCN1A):c.2295del (p.Met766fs) Deletion Pathogenic 813760 GRCh37: 2:166897861-166897861
GRCh38: 2:166041351-166041351
11 SCN1A NM_001165963.4(SCN1A):c.2879T>C (p.Met960Thr) SNV Pathogenic 813803 GRCh37: 2:166894353-166894353
GRCh38: 2:166037843-166037843
12 SCN1A , LOC102724058 NM_006920.6(SCN1A):c.3991G>T (p.Gly1331Ter) SNV Pathogenic 812186 GRCh37: 2:166859242-166859242
GRCh38: 2:166002732-166002732
13 SCN1A NM_001165963.4(SCN1A):c.36del (p.Asp12fs) Deletion Pathogenic 870591 GRCh37: 2:166930096-166930096
GRCh38: 2:166073586-166073586
14 SCN1A NM_001165963.4(SCN1A):c.3016del (p.Asp1006fs) Deletion Pathogenic 929414 GRCh37: 2:166892971-166892971
GRCh38: 2:166036461-166036461
15 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4331C>A (p.Ser1444Tyr) SNV Pathogenic 929415 GRCh37: 2:166856240-166856240
GRCh38: 2:165999730-165999730
16 SCN1A NM_001165963.4(SCN1A):c.1575_1581del (p.Glu526fs) Deletion Pathogenic 929417 GRCh37: 2:166901634-166901640
GRCh38: 2:166045124-166045130
17 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.5388T>A (p.Ser1796Arg) SNV Pathogenic 929425 GRCh37: 2:166848397-166848397
GRCh38: 2:165991887-165991887
18 SCN1A NM_001165963.4(SCN1A):c.986del (p.Gly329fs) Deletion Pathogenic 976439 GRCh37: 2:166905438-166905438
GRCh38: 2:166048928-166048928
19 SCN1A NM_001165963.4(SCN1A):c.1133del (p.Leu378fs) Deletion Pathogenic 977923 GRCh37: 2:166904174-166904174
GRCh38: 2:166047664-166047664
20 SCN1A NM_006920.6(SCN1A):c.842C>G (p.Pro281Arg) SNV Pathogenic 807675 rs796052964 GRCh37: 2:166908351-166908351
GRCh38: 2:166051841-166051841
21 SCN1A NM_001165963.4(SCN1A):c.563A>T (p.Asp188Val) SNV Pathogenic 12884 rs121917953 GRCh37: 2:166911187-166911187
GRCh38: 2:166054677-166054677
22 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3762T>A (p.Tyr1254Ter) SNV Pathogenic 861530 GRCh37: 2:166868736-166868736
GRCh38: 2:166012226-166012226
23 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val) SNV Pathogenic 68551 rs121917975 GRCh37: 2:166850875-166850875
GRCh38: 2:165994365-165994365
24 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His) SNV Pathogenic 12882 rs121918622 GRCh37: 2:166848842-166848842
GRCh38: 2:165992332-165992332
25 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.5797del (p.Arg1933fs) Deletion Pathogenic 130208 rs587780446 GRCh37: 2:166847988-166847988
GRCh38: 2:165991478-165991478
26 SCN1A NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter) SNV Pathogenic 190225 rs786205214 GRCh37: 2:166897942-166897942
GRCh38: 2:166041432-166041432
27 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) SNV Pathogenic 68558 rs121917976 GRCh37: 2:166848851-166848851
GRCh38: 2:165992341-165992341
28 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) SNV Pathogenic 206837 rs139300715 GRCh37: 2:166852557-166852557
GRCh38: 2:165996047-165996047
29 SCN1A NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His) SNV Pathogenic 189869 rs794726718 GRCh37: 2:166894440-166894440
GRCh38: 2:166037930-166037930
30 SCN1A NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) SNV Pathogenic 68578 rs121917984 GRCh37: 2:166909379-166909379
GRCh38: 2:166052869-166052869
31 SCN1A NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr) SNV Pathogenic 12896 rs121918631 GRCh37: 2:166912960-166912960
GRCh38: 2:166056450-166056450
32 SCN1A NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter) SNV Pathogenic 189848 GRCh37: 2:166901591-166901591
GRCh38: 2:166045081-166045081
33 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4913T>A (p.Ile1638Asn) SNV Pathogenic 381568 GRCh37: 2:166848872-166848872
GRCh38: 2:165992362-165992362
34 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) SNV Pathogenic 206816 rs796053004 GRCh37: 2:166866246-166866246
GRCh38: 2:166009736-166009736
35 SCN1A NM_001165963.4(SCN1A):c.350T>C (p.Leu117Pro) SNV Pathogenic 423370 rs1064796384 GRCh37: 2:166915113-166915113
GRCh38: 2:166058603-166058603
36 SCN1A NM_006920.6(SCN1A):c.2556+1G>T SNV Pathogenic 372551 rs1057517849 GRCh37: 2:166895932-166895932
GRCh38: 2:166039422-166039422
37 SCN1A NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) SNV Pathogenic 265254 rs886039430 GRCh37: 2:166900520-166900520
GRCh38: 2:166044010-166044010
38 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) SNV Pathogenic 189896 rs794726739 GRCh37: 2:166848111-166848111
GRCh38: 2:165991601-165991601
39 SCN1A NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) SNV Pathogenic 189886 GRCh37: 2:166898844-166898844
GRCh38: 2:166042334-166042334
40 SCN1A NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His) SNV Pathogenic 68523 GRCh37: 2:166894395-166894395
GRCh38: 2:166037885-166037885
41 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3610T>C (p.Trp1204Arg) SNV Pathogenic 12887 rs121917930 GRCh37: 2:166870349-166870349
GRCh38: 2:166013839-166013839
42 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile) SNV Pathogenic 12894 rs121918629 GRCh37: 2:166848659-166848659
GRCh38: 2:165992149-165992149
43 SCN1A NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys) SNV Pathogenic 68604 rs121918775 GRCh37: 2:166894396-166894396
GRCh38: 2:166037886-166037886
44 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg) SNV Pathogenic 68631 rs121918789 GRCh37: 2:166856271-166856271
GRCh38: 2:165999761-165999761
45 SCN1A NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met) SNV Pathogenic 12883 rs121918623 GRCh37: 2:166894608-166894608
GRCh38: 2:166038098-166038098
46 SCN1A NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) SNV Pathogenic 93635 rs398123585 GRCh37: 2:166900385-166900385
GRCh38: 2:166043875-166043875
47 SCN1A NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) SNV Pathogenic 12889 rs121918624 GRCh37: 2:166909392-166909392
GRCh38: 2:166052882-166052882
48 SCN1A NM_006920.6(SCN1A):c.602+1G>A SNV Pathogenic 197187 GRCh37: 2:166911147-166911147
GRCh38: 2:166054637-166054637
49 SCN1A NM_006920.6(SCN1A):c.602+1G>A SNV Pathogenic 197187 GRCh37: 2:166911147-166911147
GRCh38: 2:166054637-166054637
50 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.5215C>T (p.Pro1739Ser) SNV Likely pathogenic 997960 GRCh37: 2:166848570-166848570
GRCh38: 2:165992060-165992060

UniProtKB/Swiss-Prot genetic disease variations for Generalized Epilepsy with Febrile Seizures Plus, Type 2:

72 (show all 44)
# Symbol AA change Variation ID SNP ID
1 SCN1A p.Thr875Met VAR_010110 rs121918623
2 SCN1A p.Arg1648His VAR_010111 rs121918622
3 SCN1A p.Asp188Val VAR_014267 rs121917953
4 SCN1A p.Trp1204Arg VAR_014270 rs121917930
5 SCN1A p.Lys1270Thr VAR_014271 rs121918626
6 SCN1A p.Val1353Leu VAR_014272 rs121917954
7 SCN1A p.Ile1656Met VAR_014273 rs121917955
8 SCN1A p.Met145Thr VAR_025366 rs121918631
9 SCN1A p.Tyr790Cys VAR_029675 rs121918782
10 SCN1A p.Arg946His VAR_029683 rs121917971
11 SCN1A p.Val1428Ala VAR_029700 rs121918627
12 SCN1A p.Arg1657Cys VAR_029709 rs121918811
13 SCN1A p.Ala1685Val VAR_029715 rs121918744
14 SCN1A p.Met1852Thr VAR_029727 rs121918783
15 SCN1A p.Arg377Gln VAR_043354 rs121917957
16 SCN1A p.Met973Val VAR_043359 rs121917991
17 SCN1A p.Val1366Ile VAR_043364 rs121918805
18 SCN1A p.Asp1742Gly VAR_057998 rs121918812
19 SCN1A p.Val1857Leu VAR_057999 rs121918814
20 SCN1A p.Asp1866Tyr VAR_058000 rs121918815
21 SCN1A p.Arg27Thr VAR_064229 rs121917906
22 SCN1A p.Tyr388His VAR_064241 rs121918781
23 SCN1A p.Leu1309Phe VAR_064258 rs121918801
24 SCN1A p.Glu1795Lys VAR_064276 rs121918813
25 SCN1A p.Ser74Pro VAR_064295 rs121917931
26 SCN1A p.Arg859Cys VAR_064306 rs121918784
27 SCN1A p.Phe1687Ser VAR_064324 rs121917932
28 SCN1A p.Phe218Leu VAR_073457 rs970867558
29 SCN1A p.Thr254Ile VAR_073465
30 SCN1A p.Ser291Gly VAR_073472
31 SCN1A p.Arg859His VAR_073501 rs398123588
32 SCN1A p.Ile899Thr VAR_073508
33 SCN1A p.Asn935His VAR_073514
34 SCN1A p.Met960Thr VAR_073522
35 SCN1A p.Met976Ile VAR_073524
36 SCN1A p.Trp1204Ser VAR_073536
37 SCN1A p.Leu1230Phe VAR_073540
38 SCN1A p.Lys1249Asn VAR_073543
39 SCN1A p.Thr1250Met VAR_073544 rs140731963
40 SCN1A p.Asn1414Asp VAR_073571
41 SCN1A p.Arg1596His VAR_073604 rs575368466
42 SCN1A p.Pro1739Leu VAR_073632
43 SCN1A p.Phe1765Leu VAR_073635
44 SCN1A p.Ile1867Thr VAR_073653 rs113169177

Expression for Generalized Epilepsy with Febrile Seizures Plus, Type 2

Search GEO for disease gene expression data for Generalized Epilepsy with Febrile Seizures Plus, Type 2.

Pathways for Generalized Epilepsy with Febrile Seizures Plus, Type 2

Pathways related to Generalized Epilepsy with Febrile Seizures Plus, Type 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.63 SCN9A SCN1B SCN1A SCN11A
2
Show member pathways
12.43 SCN9A SCN1B SCN1A SCN11A
3
Show member pathways
12.21 SCN9A SCN1B SCN1A SCN11A
4 12.09 SCN9A SCN1B SCN1A SCN11A
5
Show member pathways
11.55 SCN9A SCN1B SCN1A SCN11A
6
Show member pathways
11.13 SCN9A SCN1B SCN1A SCN11A
7 11.03 GABRG2 GABRD
8 10.6 GABRG2 GABRD
9 10.4 SCN9A SCN1B SCN1A SCN11A

GO Terms for Generalized Epilepsy with Febrile Seizures Plus, Type 2

Cellular components related to Generalized Epilepsy with Febrile Seizures Plus, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.01 SLC9A9 SLC9A6 SCN9A SCN1B SCN1A SCN11A
2 plasma membrane GO:0005886 9.97 SLC9A9 SLC9A6 SCN9A SCN1B SCN1A SCN11A
3 chloride channel complex GO:0034707 9.48 GABRG2 GABRD
4 intercalated disc GO:0014704 9.46 SCN1B SCN1A
5 T-tubule GO:0030315 9.43 SCN1B SCN1A
6 axon GO:0030424 9.43 SCN9A SCN1B SCN1A SCN11A GABRG2 GABRD
7 GABA-A receptor complex GO:1902711 9.32 GABRG2 GABRD
8 node of Ranvier GO:0033268 9.26 SCN1B SCN1A
9 sodium channel complex GO:0034706 9.16 SCN1B SCN1A
10 voltage-gated sodium channel complex GO:0001518 8.92 SCN9A SCN1B SCN1A SCN11A

Biological processes related to Generalized Epilepsy with Febrile Seizures Plus, Type 2 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.83 SLC9A9 SLC9A6 SCN9A SCN1A SCN11A
2 ion transport GO:0006811 9.76 SLC9A9 SLC9A6 SCN9A SCN1B SCN1A SCN11A
3 ion transmembrane transport GO:0034220 9.72 SCN9A SCN1B SCN1A GABRG2 GABRD
4 regulation of ion transmembrane transport GO:0034765 9.71 SCN9A SCN1B SCN1A SCN11A
5 regulation of membrane potential GO:0042391 9.65 SCN1A GABRG2 GABRD
6 anion transmembrane transport GO:0098656 9.57 SLC9A9 SLC9A6
7 nervous system process GO:0050877 9.56 GABRG2 GABRD
8 regulation of postsynaptic membrane potential GO:0060078 9.55 GABRG2 GABRD
9 regulation of intracellular pH GO:0051453 9.54 SLC9A9 SLC9A6
10 neuronal action potential GO:0019228 9.54 SCN9A SCN1A SCN11A
11 sodium ion import across plasma membrane GO:0098719 9.52 SLC9A9 SLC9A6
12 regulation of pH GO:0006885 9.51 SLC9A9 SLC9A6
13 cardiac muscle cell action potential involved in contraction GO:0086002 9.49 SCN1B SCN1A
14 neuronal action potential propagation GO:0019227 9.46 SCN1B SCN1A
15 membrane depolarization during action potential GO:0086010 9.43 SCN9A SCN1A SCN11A
16 sodium ion transport GO:0006814 9.43 SLC9A9 SLC9A6 SCN9A SCN1B SCN1A SCN11A
17 sodium ion transmembrane transport GO:0035725 9.1 SLC9A9 SLC9A6 SCN9A SCN1B SCN1A SCN11A

Molecular functions related to Generalized Epilepsy with Febrile Seizures Plus, Type 2 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.56 SCN9A SCN1B SCN1A SCN11A
2 ion channel activity GO:0005216 9.55 SCN9A SCN1A SCN11A GABRG2 GABRD
3 antiporter activity GO:0015297 9.51 SLC9A9 SLC9A6
4 cation channel activity GO:0005261 9.5 SCN9A SCN1A SCN11A
5 extracellular ligand-gated ion channel activity GO:0005230 9.49 GABRG2 GABRD
6 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.48 GABRG2 GABRD
7 GABA-A receptor activity GO:0004890 9.46 GABRG2 GABRD
8 solute:proton antiporter activity GO:0015299 9.43 SLC9A9 SLC9A6
9 sodium:proton antiporter activity GO:0015385 9.4 SLC9A9 SLC9A6
10 potassium:proton antiporter activity GO:0015386 9.37 SLC9A9 SLC9A6
11 sodium channel activity GO:0005272 9.26 SCN9A SCN1B SCN1A SCN11A
12 voltage-gated sodium channel activity GO:0005248 8.92 SCN9A SCN1B SCN1A SCN11A

Sources for Generalized Epilepsy with Febrile Seizures Plus, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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