MCID: SZR007
MIFTS: 46

Seizures, Benign Familial Infantile, 3

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Seizures, Benign Familial Infantile, 3

MalaCards integrated aliases for Seizures, Benign Familial Infantile, 3:

Name: Seizures, Benign Familial Infantile, 3 57 75 13 73
Benign Familial Neonatal-Infantile Seizures 53 59 75 29 6
Bfnis 57 53 59 75
Seizures, Benign Familial Neonatal-Infantile 57 55
Bfis3 57 75
Bfic3 57 75
Seizures, Benign Familial Neonatal-Infantile; Bfnis 57
Convulsions, Benign Familial Infantile, 3; Bfic3 57
Benign Familial Neonatal-Infantile Epilepsy 75
Convulsions, Benign Familial Infantile, 3 57
Benign Familial Infantile Convulsions 3 75
Benign Familial Infantile Convulsions 53
Convulsions Benign Familial Neonatal 53
Familial Benign Neonatal Convulsions 55
Epilepsy, Benign Neonatal-Infantile 53
Benign Neonatal-Infantile Epilepsy 59
Familial Benign Neonatal Epilepsy 73

Characteristics:

Orphanet epidemiological data:

59
benign familial neonatal-infantile seizures
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset ranges from 2 days to 7 months (most at 2-3 months)
seizures are easily controlled by medications
spontaneous resolution by 12 months of age with no recurrence later in life
see also benign familial infantile convulsions (bfic1, )
see also benign neonatal epilepsy (ebn1, )


HPO:

32
seizures, benign familial infantile, 3:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 607745
Orphanet 59 ORPHA140927
UMLS via Orphanet 74 C0220669
ICD10 via Orphanet 34 G40.4
MedGen 42 C1843140
MeSH 44 D020936
SNOMED-CT via HPO 69 263681008 119419001 3415004
UMLS 73 C1843140

Summaries for Seizures, Benign Familial Infantile, 3

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 140927Disease definitionBenign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsysyndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.Visit the Orphanet disease page for more resources.

MalaCards based summary : Seizures, Benign Familial Infantile, 3, also known as benign familial neonatal-infantile seizures, is related to benign familial infantile epilepsy and benign familial neonatal epilepsy, and has symptoms including cyanosis An important gene associated with Seizures, Benign Familial Infantile, 3 is SCN2A (Sodium Voltage-Gated Channel Alpha Subunit 2), and among its related pathways/superpathways are Developmental Biology and Circadian entrainment. Affiliated tissues include brain and eye, and related phenotypes are cyanosis and normal interictal eeg

OMIM : 57 Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986). For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764). BFIS1 has a slightly later onset than BFIS3, while benign neonatal seizures (see BFNS1, 121200) has a slightly earlier onset. (607745)

UniProtKB/Swiss-Prot : 75 Seizures, benign familial infantile, 3: A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS3 inheritance is autosomal dominant.

Related Diseases for Seizures, Benign Familial Infantile, 3

Diseases in the Seizure Disorder family:

Seizures, Benign Familial Infantile, 1 Seizures, Benign Familial Infantile, 2
Seizures, Benign Familial Infantile, 3 Seizures, Benign Familial Infantile, 4
Seizures, Benign Familial Infantile, 5 Scn1a-Related Seizure Disorders

Diseases related to Seizures, Benign Familial Infantile, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 benign familial infantile epilepsy 32.0 KCNQ2 KCNQ3 SCN1B SCN2A
2 benign familial neonatal epilepsy 31.9 KCNQ2 KCNQ3 SCN2A
3 convulsions benign familial neonatal dominant form 12.4
4 seizures, benign familial neonatal, 2 11.3
5 seizures, benign familial neonatal, 3 11.3
6 seizures, benign familial neonatal, 1 11.2
7 seizures, benign familial infantile, 1 11.1
8 epilepsy with generalized tonic-clonic seizures 10.1 SCN1A SCN2A
9 benign neonatal seizures 10.1 KCNQ2 KCNQ3 SCN2A
10 malignant migrating partial seizures of infancy 10.1 SCN1A SCN2A
11 childhood electroclinical syndrome 10.0 GABRG2 KCNQ2
12 neuronitis 10.0
13 myoclonic epilepsy of infancy 9.9 GABRG2 SCN1A
14 generalized epilepsy with febrile seizures plus, type 1 9.9 SCN1A SCN1B
15 epileptic encephalopathy, early infantile, 9 9.9 KCNQ2 SCN1A
16 lennox-gastaut syndrome 9.8 KCNQ2 SCN1A
17 seizure disorder 9.8 KCNQ2 SCN1A SCN2A
18 adolescence-adult electroclinical syndrome 9.8 GABRG2 SCN1A
19 west syndrome 9.7 KCNQ2 SCN1A SCN2A
20 long qt syndrome 9.7 KCNQ2 KCNQ3 SCN1B
21 infantile epileptic encephalopathy 9.7 SCN1A SCN2A
22 central nervous system disease 9.6 CHRNA4 KCNQ2 SCN1A
23 childhood absence epilepsy 9.5 CHRNA4 GABRG2 SCN1B
24 neonatal period electroclinical syndrome 9.4 KCNQ2 KCNQ3 SCN1A SCN2A
25 epileptic encephalopathy, early infantile, 15 9.4 KCNQ2 KCNQ3 SCN1A SCN2A
26 early myoclonic encephalopathy 9.3 GABRG2 SCN1A SCN1B
27 episodic ataxia 9.2 KCNA1 SCN2A
28 benign epilepsy with centrotemporal spikes 8.9 GABRG2 KCNQ2 KCNQ3 SCN1B SCN2A
29 trehalase deficiency 8.6 KCNA1 KCNQ2 SCN1A SCN2A
30 infancy electroclinical syndrome 8.6 GABRG2 KCNQ2 SCN1A SCN1B SCN2A
31 febrile seizures 8.5 CHRNA4 GABRG2 KCNQ2 SCN1A SCN1B
32 epileptic encephalopathy, early infantile, 6 8.2 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A
33 generalized epilepsy with febrile seizures plus 8.2 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A
34 focal epilepsy 8.1 CHRNA4 GABRG2 KCNA1 SCN1A SCN2A
35 epilepsy 8.0 CHRNA4 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B
36 epilepsy, idiopathic generalized 10 7.7 CHRNA4 GABRG2 KCNA1 KCNQ3 SCN1A SCN2A
37 epilepsy, nocturnal frontal lobe, 1 7.1 CHRNA4 GABRG2 KCNA1 KCNQ2 KCNQ3 SCN1A
38 epilepsy, idiopathic generalized 6.7 CHRNA4 GABRG2 KCNA1 KCNQ2 KCNQ3 SCN1A

Graphical network of the top 20 diseases related to Seizures, Benign Familial Infantile, 3:



Diseases related to Seizures, Benign Familial Infantile, 3

Symptoms & Phenotypes for Seizures, Benign Familial Infantile, 3

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
cyanosis
apnea during seizure spells

Neurologic Central Nervous System:
normal interictal eeg
normal psychomotor development
seizures, partial, afebrile
secondary generalized tonic-clonic seizures may occur
seizures occur in clusters over 1 or several days
more

Clinical features from OMIM:

607745

Human phenotypes related to Seizures, Benign Familial Infantile, 3:

32
# Description HPO Frequency HPO Source Accession
1 cyanosis 32 HP:0000961
2 normal interictal eeg 32 HP:0002372
3 generalized tonic-clonic seizures with focal onset 32 HP:0007334
4 dialeptic seizures 32 HP:0011146
5 focal seizures, afebril 32 HP:0040168

UMLS symptoms related to Seizures, Benign Familial Infantile, 3:


cyanosis

MGI Mouse Phenotypes related to Seizures, Benign Familial Infantile, 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.86 KCNQ3 SCN1A SCN1B SCN2A CHRNA4 GABRG2
2 growth/size/body region MP:0005378 9.7 KCNQ3 SCN1A SCN1B SCN2A GABRG2 KCNA1
3 mortality/aging MP:0010768 9.61 KCNQ3 SCN1A SCN1B SCN2A CHRNA4 TACSTD2
4 nervous system MP:0003631 9.23 KCNQ3 SCN1A SCN1B SCN2A CHRNA4 GABRG2

Drugs & Therapeutics for Seizures, Benign Familial Infantile, 3

Search Clinical Trials , NIH Clinical Center for Seizures, Benign Familial Infantile, 3

Genetic Tests for Seizures, Benign Familial Infantile, 3

Genetic tests related to Seizures, Benign Familial Infantile, 3:

# Genetic test Affiliating Genes
1 Benign Familial Neonatal-Infantile Seizures 29 SCN2A

Anatomical Context for Seizures, Benign Familial Infantile, 3

MalaCards organs/tissues related to Seizures, Benign Familial Infantile, 3:

41
Brain, Eye

Publications for Seizures, Benign Familial Infantile, 3

Articles related to Seizures, Benign Familial Infantile, 3:

# Title Authors Year
1
Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures. ( 18479388 )
2008
2
SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. ( 17386050 )
2007
3
Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures. ( 17021166 )
2006
4
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. ( 15048894 )
2004
5
Sodium-channel defects in benign familial neonatal-infantile seizures. ( 12243921 )
2002
6
Benign familial neonatal-infantile seizures. ( 6660252 )
1983

Variations for Seizures, Benign Familial Infantile, 3

UniProtKB/Swiss-Prot genetic disease variations for Seizures, Benign Familial Infantile, 3:

75 (show all 13)
# Symbol AA change Variation ID SNP ID
1 SCN2A p.Arg188Trp VAR_029733 rs121917748
2 SCN2A p.Arg223Gln VAR_029734 rs121917752
3 SCN2A p.Val892Ile VAR_029737 rs121917751
4 SCN2A p.Leu1003Ile VAR_029738 rs121917754
5 SCN2A p.Arg1319Gln VAR_029739 rs121917753
6 SCN2A p.Leu1330Phe VAR_029740 rs121917749
7 SCN2A p.Leu1563Val VAR_029741 rs121917750
8 SCN2A p.Met252Val VAR_065176 rs387906687
9 SCN2A p.Val261Met VAR_065177
10 SCN2A p.Val208Glu VAR_072745
11 SCN2A p.Ala240Ser VAR_078455
12 SCN2A p.Asn1001Lys VAR_078468
13 SCN2A p.Tyr1589Cys VAR_078478

ClinVar genetic disease variations for Seizures, Benign Familial Infantile, 3:

6
(show top 50) (show all 372)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN2A NM_001040142.1(SCN2A): c.562C> T (p.Arg188Trp) single nucleotide variant Pathogenic rs121917748 GRCh37 Chromosome 2, 166165261: 166165261
2 SCN2A NM_001040142.1(SCN2A): c.562C> T (p.Arg188Trp) single nucleotide variant Pathogenic rs121917748 GRCh38 Chromosome 2, 165308751: 165308751
3 SCN2A NM_001040142.1(SCN2A): c.3988C> T (p.Leu1330Phe) single nucleotide variant Pathogenic rs121917749 GRCh37 Chromosome 2, 166231210: 166231210
4 SCN2A NM_001040142.1(SCN2A): c.3988C> T (p.Leu1330Phe) single nucleotide variant Pathogenic rs121917749 GRCh38 Chromosome 2, 165374700: 165374700
5 SCN2A NM_021007.2(SCN2A): c.4687C> G (p.Leu1563Val) single nucleotide variant Pathogenic rs121917750 GRCh37 Chromosome 2, 166243391: 166243391
6 SCN2A NM_021007.2(SCN2A): c.4687C> G (p.Leu1563Val) single nucleotide variant Pathogenic rs121917750 GRCh38 Chromosome 2, 165386881: 165386881
7 SCN2A NM_001040142.1(SCN2A): c.668G> A (p.Arg223Gln) single nucleotide variant Pathogenic rs121917752 GRCh37 Chromosome 2, 166165924: 166165924
8 SCN2A NM_001040142.1(SCN2A): c.668G> A (p.Arg223Gln) single nucleotide variant Pathogenic rs121917752 GRCh38 Chromosome 2, 165309414: 165309414
9 SCN2A NM_021007.2(SCN2A): c.3956G> A (p.Arg1319Gln) single nucleotide variant Pathogenic rs121917753 GRCh37 Chromosome 2, 166229841: 166229841
10 SCN2A NM_021007.2(SCN2A): c.3956G> A (p.Arg1319Gln) single nucleotide variant Pathogenic rs121917753 GRCh38 Chromosome 2, 165373331: 165373331
11 SCN2A NM_001040142.1(SCN2A): c.3007C> A (p.Leu1003Ile) single nucleotide variant Pathogenic rs121917754 GRCh37 Chromosome 2, 166210789: 166210789
12 SCN2A NM_001040142.1(SCN2A): c.3007C> A (p.Leu1003Ile) single nucleotide variant Pathogenic rs121917754 GRCh38 Chromosome 2, 165354279: 165354279
13 SCN2A NM_021007.2(SCN2A): c.3631G> A (p.Glu1211Lys) single nucleotide variant Pathogenic/Likely pathogenic rs387906684 GRCh37 Chromosome 2, 166223837: 166223837
14 SCN2A NM_021007.2(SCN2A): c.3631G> A (p.Glu1211Lys) single nucleotide variant Pathogenic/Likely pathogenic rs387906684 GRCh38 Chromosome 2, 165367327: 165367327
15 SCN2A NM_021007.2(SCN2A): c.788C> T (p.Ala263Val) single nucleotide variant Pathogenic rs387906686 GRCh37 Chromosome 2, 166166923: 166166923
16 SCN2A NM_021007.2(SCN2A): c.788C> T (p.Ala263Val) single nucleotide variant Pathogenic rs387906686 GRCh38 Chromosome 2, 165310413: 165310413
17 SCN2A NM_001040142.1(SCN2A): c.754A> G (p.Met252Val) single nucleotide variant Pathogenic rs387906687 GRCh37 Chromosome 2, 166166889: 166166889
18 SCN2A NM_001040142.1(SCN2A): c.754A> G (p.Met252Val) single nucleotide variant Pathogenic rs387906687 GRCh38 Chromosome 2, 165310379: 165310379
19 SCN2A NM_001040142.1(SCN2A): c.3374delA (p.Glu1125Glyfs) deletion Pathogenic rs587780450 GRCh37 Chromosome 2, 166211156: 166211156
20 SCN2A NM_001040142.1(SCN2A): c.3374delA (p.Glu1125Glyfs) deletion Pathogenic rs587780450 GRCh38 Chromosome 2, 165354646: 165354646
21 SCN2A NM_001040142.1(SCN2A): c.1178C> A (p.Thr393Lys) single nucleotide variant Likely pathogenic rs794727003 GRCh37 Chromosome 2, 166170413: 166170413
22 SCN2A NM_001040142.1(SCN2A): c.1178C> A (p.Thr393Lys) single nucleotide variant Likely pathogenic rs794727003 GRCh38 Chromosome 2, 165313903: 165313903
23 SCN2A NM_021007.2(SCN2A): c.2558G> A (p.Arg853Gln) single nucleotide variant Pathogenic/Likely pathogenic rs794727152 GRCh37 Chromosome 2, 166198975: 166198975
24 SCN2A NM_021007.2(SCN2A): c.2558G> A (p.Arg853Gln) single nucleotide variant Pathogenic/Likely pathogenic rs794727152 GRCh38 Chromosome 2, 165342465: 165342465
25 SCN2A NM_021007.2(SCN2A): c.5505C> T (p.Asn1835=) single nucleotide variant Conflicting interpretations of pathogenicity rs6706924 GRCh37 Chromosome 2, 166245821: 166245821
26 SCN2A NM_021007.2(SCN2A): c.5505C> T (p.Asn1835=) single nucleotide variant Conflicting interpretations of pathogenicity rs6706924 GRCh38 Chromosome 2, 165389311: 165389311
27 SCN2A NM_021007.2(SCN2A): c.5645G> A (p.Arg1882Gln) single nucleotide variant Pathogenic/Likely pathogenic rs794727444 GRCh37 Chromosome 2, 166245961: 166245961
28 SCN2A NM_021007.2(SCN2A): c.5645G> A (p.Arg1882Gln) single nucleotide variant Pathogenic/Likely pathogenic rs794727444 GRCh38 Chromosome 2, 165389451: 165389451
29 SCN2A NM_021007.2(SCN2A): c.82C> T (p.Arg28Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200884216 GRCh37 Chromosome 2, 166152415: 166152415
30 SCN2A NM_021007.2(SCN2A): c.82C> T (p.Arg28Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200884216 GRCh38 Chromosome 2, 165295905: 165295905
31 SCN2A NM_021007.2(SCN2A): c.100G> A (p.Ala34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144814658 GRCh37 Chromosome 2, 166152433: 166152433
32 SCN2A NM_021007.2(SCN2A): c.100G> A (p.Ala34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144814658 GRCh38 Chromosome 2, 165295923: 165295923
33 SCN2A NM_021007.2(SCN2A): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs181327458 GRCh38 Chromosome 2, 165310448: 165310448
34 SCN2A NM_021007.2(SCN2A): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs181327458 GRCh37 Chromosome 2, 166166958: 166166958
35 SCN2A NM_021007.2(SCN2A): c.952G> A (p.Glu318Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs149987700 GRCh37 Chromosome 2, 166167087: 166167087
36 SCN2A NM_021007.2(SCN2A): c.952G> A (p.Glu318Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs149987700 GRCh38 Chromosome 2, 165310577: 165310577
37 SCN2A NM_021007.2(SCN2A): c.1035-15C> G single nucleotide variant Uncertain significance rs761906987 GRCh38 Chromosome 2, 165313605: 165313605
38 SCN2A NM_021007.2(SCN2A): c.1035-15C> G single nucleotide variant Uncertain significance rs761906987 GRCh37 Chromosome 2, 166170115: 166170115
39 SCN2A NM_021007.2(SCN2A): c.1147C> G (p.Gln383Glu) single nucleotide variant Pathogenic rs796053178 GRCh38 Chromosome 2, 165313732: 165313732
40 SCN2A NM_021007.2(SCN2A): c.1147C> G (p.Gln383Glu) single nucleotide variant Pathogenic rs796053178 GRCh37 Chromosome 2, 166170242: 166170242
41 SCN2A NM_021007.2(SCN2A): c.1841C> T (p.Pro614Leu) single nucleotide variant Uncertain significance rs143734912 GRCh37 Chromosome 2, 166179835: 166179835
42 SCN2A NM_021007.2(SCN2A): c.1841C> T (p.Pro614Leu) single nucleotide variant Uncertain significance rs143734912 GRCh38 Chromosome 2, 165323325: 165323325
43 SCN2A NM_021007.2(SCN2A): c.1976G> A (p.Gly659Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs368887417 GRCh37 Chromosome 2, 166179970: 166179970
44 SCN2A NM_021007.2(SCN2A): c.1976G> A (p.Gly659Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs368887417 GRCh38 Chromosome 2, 165323460: 165323460
45 SCN2A NM_021007.2(SCN2A): c.1984A> G (p.Thr662Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs796053111 GRCh38 Chromosome 2, 165323468: 165323468
46 SCN2A NM_021007.2(SCN2A): c.1984A> G (p.Thr662Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs796053111 GRCh37 Chromosome 2, 166179978: 166179978
47 SCN2A NM_021007.2(SCN2A): c.2149+8A> G single nucleotide variant Benign rs199897920 GRCh38 Chromosome 2, 165326992: 165326992
48 SCN2A NM_021007.2(SCN2A): c.2149+8A> G single nucleotide variant Benign rs199897920 GRCh37 Chromosome 2, 166183502: 166183502
49 SCN2A NM_021007.2(SCN2A): c.2657T> C (p.Leu886Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs796053118 GRCh38 Chromosome 2, 165344649: 165344649
50 SCN2A NM_021007.2(SCN2A): c.2657T> C (p.Leu886Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs796053118 GRCh37 Chromosome 2, 166201159: 166201159

Copy number variations for Seizures, Benign Familial Infantile, 3 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 99622 16 27600000 38200000 Copy number Benign familial neonatal-infantile seizures
2 134790 2 107500000 169500000 Copy number SCN2A Benign familial neonatal-infantile seizures
3 156493 20 61445108 61479933 Deletion CHRNA4 Benign familial neonatal-infantile seizures
4 156505 20 61502012 61574437 Deletion KCNQ2 Benign familial neonatal-infantile seizures
5 264717 2 165804157 165957066 Deletion SCN2A Benign familial neonatal-infantile seizures
6 264718 2 165652275 165768823 Deletion SCN3A Benign familial neonatal-infantile seizures

Expression for Seizures, Benign Familial Infantile, 3

Search GEO for disease gene expression data for Seizures, Benign Familial Infantile, 3.

Pathways for Seizures, Benign Familial Infantile, 3

Pathways related to Seizures, Benign Familial Infantile, 3 according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A
2
Show member pathways
12.6 CHRNA4 KCNQ2 KCNQ3 SCN1A
3
Show member pathways
12.41 CHRNA4 GABRG2 KCNA1 KCNQ2 KCNQ3
4
Show member pathways
12.28 SCN1A SCN1B SCN2A
5 12.16 KCNQ2 SCN1A SCN1B SCN2A
6 11.94 KCNA1 KCNQ2 KCNQ3
7
Show member pathways
11.71 KCNA1 KCNQ2 KCNQ3
8
Show member pathways
11.45 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A
9
Show member pathways
11.31 SCN1A SCN1B SCN2A
10 11.26 KCNQ2 KCNQ3
11 11.06 CHRNA4 GABRG2
12 10.5 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A

GO Terms for Seizures, Benign Familial Infantile, 3

Cellular components related to Seizures, Benign Familial Infantile, 3 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.87 CHRNA4 GABRG2 KCNA1 KCNQ2 KCNQ3 SCN2A
2 axon GO:0030424 9.8 GABRG2 KCNA1 SCN1A SCN2A
3 neuronal cell body GO:0043025 9.71 CHRNA4 KCNA1 SCN1A
4 voltage-gated potassium channel complex GO:0008076 9.65 KCNA1 KCNQ2 KCNQ3
5 intercalated disc GO:0014704 9.61 SCN1A SCN1B SCN2A
6 T-tubule GO:0030315 9.54 SCN1A SCN1B SCN2A
7 paranode region of axon GO:0033270 9.51 KCNA1 SCN2A
8 voltage-gated sodium channel complex GO:0001518 9.43 SCN1A SCN1B SCN2A
9 axon initial segment GO:0043194 9.33 KCNQ2 KCNQ3 SCN1A
10 sodium channel complex GO:0034706 9.13 SCN1A SCN1B SCN2A
11 node of Ranvier GO:0033268 9.02 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A
12 membrane GO:0016020 10.18 CHRNA4 GABRG2 KCNA1 KCNQ2 KCNQ3 SCN1A
13 integral component of membrane GO:0016021 10.11 CHRNA4 GABRG2 KCNA1 KCNQ2 KCNQ3 SCN1A
14 plasma membrane GO:0005886 10.06 CHRNA4 GABRG2 KCNA1 KCNQ2 KCNQ3 SCN1A

Biological processes related to Seizures, Benign Familial Infantile, 3 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.8 KCNA1 KCNQ2 KCNQ3 SCN1A SCN2A
2 potassium ion transport GO:0006813 9.71 KCNA1 KCNQ2 KCNQ3
3 potassium ion transmembrane transport GO:0071805 9.7 KCNA1 KCNQ2 KCNQ3
4 sodium ion transport GO:0006814 9.67 SCN1A SCN1B SCN2A
5 ion transmembrane transport GO:0034220 9.65 CHRNA4 GABRG2 KCNQ2 SCN1A SCN2A
6 chemical synaptic transmission GO:0007268 9.63 CHRNA4 GABRG2 KCNA1 KCNQ2 KCNQ3 SCN1B
7 regulation of membrane potential GO:0042391 9.62 CHRNA4 GABRG2 KCNA1 SCN1A
8 sodium ion transmembrane transport GO:0035725 9.61 SCN1A SCN1B SCN2A
9 nervous system process GO:0050877 9.58 CHRNA4 GABRG2
10 regulation of postsynaptic membrane potential GO:0060078 9.57 CHRNA4 GABRG2
11 membrane depolarization during action potential GO:0086010 9.56 SCN1A SCN2A
12 membrane depolarization GO:0051899 9.55 CHRNA4 SCN1B
13 neuronal action potential GO:0019228 9.54 KCNA1 SCN1A SCN2A
14 cardiac muscle cell action potential involved in contraction GO:0086002 9.51 SCN1A SCN1B
15 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.48 KCNA1 SCN1A
16 neuronal action potential propagation GO:0019227 9.46 SCN1A SCN1B
17 regulation of ion transmembrane transport GO:0034765 9.43 KCNA1 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A
18 ion transport GO:0006811 9.23 CHRNA4 GABRG2 KCNA1 KCNQ2 KCNQ3 SCN1A

Molecular functions related to Seizures, Benign Familial Infantile, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.58 KCNA1 KCNQ2 KCNQ3
2 voltage-gated potassium channel activity GO:0005249 9.54 KCNA1 KCNQ2 KCNQ3
3 sodium channel activity GO:0005272 9.5 SCN1A SCN1B SCN2A
4 cation channel activity GO:0005261 9.46 SCN1A SCN2A
5 extracellular ligand-gated ion channel activity GO:0005230 9.43 CHRNA4 GABRG2
6 delayed rectifier potassium channel activity GO:0005251 9.43 KCNA1 KCNQ2 KCNQ3
7 ion channel activity GO:0005216 9.35 CHRNA4 GABRG2 KCNA1 SCN1A SCN2A
8 voltage-gated sodium channel activity GO:0005248 9.33 SCN1A SCN1B SCN2A
9 voltage-gated ion channel activity GO:0005244 9.1 KCNA1 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A
10 protein binding GO:0005515 10.13 CHRNA4 GABRG2 KCNA1 KCNQ2 KCNQ3 SCN1A

Sources for Seizures, Benign Familial Infantile, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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