BFIS3
MCID: SZR007
MIFTS: 47

Seizures, Benign Familial Infantile, 3 (BFIS3)

Categories: Genetic diseases, Neuronal diseases, Rare 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

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 seizures, benign familial neonatal, 2, 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 apnea and cyanosis

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 44)
# Related Disease Score Top Affiliating Genes
1 benign familial infantile epilepsy 32.7 KCNQ2 KCNQ3 SCN1B SCN2A
2 seizures, benign familial neonatal, 2 32.4 KCNQ2 KCNQ3
3 benign familial neonatal epilepsy 32.0 KCNQ2 KCNQ3 SCN2A
4 benign neonatal seizures 31.6 KCNA1 KCNQ2 KCNQ3 SCN2A
5 convulsions benign familial neonatal dominant form 12.5
6 episodic kinesigenic dyskinesia 1 11.6
7 seizures, benign familial neonatal, 3 11.5
8 seizures, benign familial neonatal, 1 11.3
9 seizures, benign familial neonatal, autosomal recessive 11.3
10 myokymia with neonatal epilepsy 11.3
11 seizures, benign familial infantile, 2 11.3
12 seizures, benign familial infantile, 5 11.3
13 seizures, benign familial infantile, 1 11.3
14 convulsions, familial infantile, with paroxysmal choreoathetosis 11.2
15 infantile epileptic encephalopathy 10.1 SCN1A SCN2A
16 epilepsy with generalized tonic-clonic seizures 10.0 SCN1A SCN2A
17 vitamin b12 deficiency 10.0
18 familial hemiplegic migraine 10.0
19 hemiplegic migraine 10.0
20 malignant migrating partial seizures of infancy 10.0 SCN1A SCN2A
21 myoclonic epilepsy of infancy 10.0 GABRG2 SCN1A
22 childhood electroclinical syndrome 10.0 GABRG2 KCNQ3
23 generalized epilepsy with febrile seizures plus, type 1 9.9 SCN1A SCN1B
24 seizure disorder 9.9 KCNQ2 SCN1A SCN2A
25 visual epilepsy 9.9 KCNQ2 SCN1A SCN2A
26 adolescence-adult electroclinical syndrome 9.9 GABRG2 SCN1A
27 west syndrome 9.9 KCNQ2 SCN1A SCN2A
28 long qt syndrome 9.9 KCNQ2 KCNQ3 SCN1B
29 lennox-gastaut syndrome 9.8 GABRG2 SCN1A
30 childhood absence epilepsy 9.8 CHRNA4 GABRG2 SCN1B
31 neonatal period electroclinical syndrome 9.8 KCNQ2 KCNQ3 SCN1A SCN2A
32 early myoclonic encephalopathy 9.8 GABRG2 SCN1A SCN1B
33 episodic ataxia 9.8 KCNA1 SCN2A
34 benign epilepsy with centrotemporal spikes 9.6 GABRG2 KCNQ2 KCNQ3 SCN1B SCN2A
35 early infantile epileptic encephalopathy 9.6 KCNA1 KCNQ2 SCN1A SCN2A
36 infancy electroclinical syndrome 9.6 GABRG2 KCNQ2 SCN1A SCN1B SCN2A
37 febrile seizures 9.5 CHRNA4 GABRG2 KCNQ2 SCN1A SCN1B
38 generalized epilepsy with febrile seizures plus 9.4 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A
39 epileptic encephalopathy, early infantile, 6 9.4 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A
40 focal epilepsy 9.4 CHRNA4 GABRG2 KCNA1 SCN1A SCN2A
41 epilepsy, idiopathic generalized 10 9.3 CHRNA4 GABRG2 KCNA1 KCNQ3 SCN1A SCN2A
42 epilepsy 9.3 CHRNA4 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B
43 epilepsy, nocturnal frontal lobe, 1 9.1 CHRNA4 GABRG2 KCNA1 KCNQ2 KCNQ3 SCN1A
44 epilepsy, idiopathic generalized 9.0 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 (show all 6)
# Description HPO Frequency HPO Source Accession
1 apnea 32 HP:0002104
2 cyanosis 32 HP:0000961
3 focal seizures, afebril 32 HP:0040168
4 normal interictal eeg 32 HP:0002372
5 focal impaired awareness seizure 32 HP:0002384
6 generalized tonic-clonic seizures with focal onset 32 HP:0007334

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 CHRNA4 GABRG2 KCNA1 KCNQ2 KCNQ3 SCN1A
2 growth/size/body region MP:0005378 9.7 GABRG2 KCNA1 KCNQ2 KCNQ3 SCN1A SCN1B
3 mortality/aging MP:0010768 9.61 CHRNA4 GABRG2 KCNA1 KCNQ2 KCNQ3 SCN1A
4 nervous system MP:0003631 9.23 CHRNA4 GABRG2 KCNA1 KCNQ2 KCNQ3 SCN1A

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 rs105752041
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 496)
# 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_021007.2(SCN2A): c.2674G> A (p.Val892Ile) single nucleotide variant Pathogenic rs121917751 GRCh37 Chromosome 2, 166201176: 166201176
8 SCN2A NM_021007.2(SCN2A): c.2674G> A (p.Val892Ile) single nucleotide variant Pathogenic rs121917751 GRCh38 Chromosome 2, 165344666: 165344666
9 SCN2A NM_001040142.1(SCN2A): c.668G> A (p.Arg223Gln) single nucleotide variant Pathogenic rs121917752 GRCh37 Chromosome 2, 166165924: 166165924
10 SCN2A NM_001040142.1(SCN2A): c.668G> A (p.Arg223Gln) single nucleotide variant Pathogenic rs121917752 GRCh38 Chromosome 2, 165309414: 165309414
11 SCN2A NM_021007.2(SCN2A): c.3956G> A (p.Arg1319Gln) single nucleotide variant Pathogenic rs121917753 GRCh37 Chromosome 2, 166229841: 166229841
12 SCN2A NM_021007.2(SCN2A): c.3956G> A (p.Arg1319Gln) single nucleotide variant Pathogenic rs121917753 GRCh38 Chromosome 2, 165373331: 165373331
13 SCN2A NM_001040142.1(SCN2A): c.3007C> A (p.Leu1003Ile) single nucleotide variant Pathogenic rs121917754 GRCh37 Chromosome 2, 166210789: 166210789
14 SCN2A NM_001040142.1(SCN2A): c.3007C> A (p.Leu1003Ile) single nucleotide variant Pathogenic rs121917754 GRCh38 Chromosome 2, 165354279: 165354279
15 SCN2A NM_021007.2(SCN2A): c.3631G> A (p.Glu1211Lys) single nucleotide variant Pathogenic/Likely pathogenic rs387906684 GRCh37 Chromosome 2, 166223837: 166223837
16 SCN2A NM_021007.2(SCN2A): c.3631G> A (p.Glu1211Lys) single nucleotide variant Pathogenic/Likely pathogenic rs387906684 GRCh38 Chromosome 2, 165367327: 165367327
17 SCN2A NM_021007.2(SCN2A): c.788C> T (p.Ala263Val) single nucleotide variant Pathogenic rs387906686 GRCh37 Chromosome 2, 166166923: 166166923
18 SCN2A NM_021007.2(SCN2A): c.788C> T (p.Ala263Val) single nucleotide variant Pathogenic rs387906686 GRCh38 Chromosome 2, 165310413: 165310413
19 SCN2A NM_001040142.1(SCN2A): c.754A> G (p.Met252Val) single nucleotide variant Pathogenic rs387906687 GRCh37 Chromosome 2, 166166889: 166166889
20 SCN2A NM_001040142.1(SCN2A): c.754A> G (p.Met252Val) single nucleotide variant Pathogenic rs387906687 GRCh38 Chromosome 2, 165310379: 165310379
21 SCN2A NM_021007.2(SCN2A): c.1269G> A (p.Val423=) single nucleotide variant Conflicting interpretations of pathogenicity rs139815570 GRCh37 Chromosome 2, 166170504: 166170504
22 SCN2A NM_021007.2(SCN2A): c.1269G> A (p.Val423=) single nucleotide variant Conflicting interpretations of pathogenicity rs139815570 GRCh38 Chromosome 2, 165313994: 165313994
23 SCN2A NM_021007.2(SCN2A): c.1376A> C (p.Glu459Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs184769423 GRCh37 Chromosome 2, 166170611: 166170611
24 SCN2A NM_021007.2(SCN2A): c.1376A> C (p.Glu459Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs184769423 GRCh38 Chromosome 2, 165314101: 165314101
25 SCN2A NM_021007.2(SCN2A): c.4565G> C (p.Gly1522Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs147522594 GRCh37 Chromosome 2, 166243269: 166243269
26 SCN2A NM_021007.2(SCN2A): c.4565G> C (p.Gly1522Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs147522594 GRCh38 Chromosome 2, 165386759: 165386759
27 SCN2A NM_021007.2(SCN2A): c.1035-3T> C single nucleotide variant Benign rs2121371 GRCh37 Chromosome 2, 166170127: 166170127
28 SCN2A NM_021007.2(SCN2A): c.1035-3T> C single nucleotide variant Benign rs2121371 GRCh38 Chromosome 2, 165313617: 165313617
29 SCN2A NM_021007.2(SCN2A): c.1785T> C (p.Asp595=) single nucleotide variant Benign/Likely benign rs141815642 GRCh37 Chromosome 2, 166179779: 166179779
30 SCN2A NM_021007.2(SCN2A): c.1785T> C (p.Asp595=) single nucleotide variant Benign/Likely benign rs141815642 GRCh38 Chromosome 2, 165323269: 165323269
31 SCN2A NM_021007.2(SCN2A): c.1842G> T (p.Pro614=) single nucleotide variant Benign/Likely benign rs114315466 GRCh37 Chromosome 2, 166179836: 166179836
32 SCN2A NM_021007.2(SCN2A): c.1842G> T (p.Pro614=) single nucleotide variant Benign/Likely benign rs114315466 GRCh38 Chromosome 2, 165323326: 165323326
33 SCN2A NM_021007.2(SCN2A): c.2723A> G (p.Lys908Arg) single nucleotide variant Benign/Likely benign rs2228980 GRCh37 Chromosome 2, 166201225: 166201225
34 SCN2A NM_021007.2(SCN2A): c.2723A> G (p.Lys908Arg) single nucleotide variant Benign/Likely benign rs2228980 GRCh38 Chromosome 2, 165344715: 165344715
35 SCN2A NM_001040142.1(SCN2A): c.3374delA (p.Glu1125Glyfs) deletion Pathogenic rs587780450 GRCh37 Chromosome 2, 166211156: 166211156
36 SCN2A NM_001040142.1(SCN2A): c.3374delA (p.Glu1125Glyfs) deletion Pathogenic rs587780450 GRCh38 Chromosome 2, 165354646: 165354646
37 SCN2A NM_021007.2(SCN2A): c.387-10G> A single nucleotide variant Benign rs2304015 GRCh37 Chromosome 2, 166164348: 166164348
38 SCN2A NM_021007.2(SCN2A): c.387-10G> A single nucleotide variant Benign rs2304015 GRCh38 Chromosome 2, 165307838: 165307838
39 SCN2A NM_021007.2(SCN2A): c.4914T> A (p.Arg1638=) single nucleotide variant Benign rs2060198 GRCh37 Chromosome 2, 166245230: 166245230
40 SCN2A NM_021007.2(SCN2A): c.4914T> A (p.Arg1638=) single nucleotide variant Benign rs2060198 GRCh38 Chromosome 2, 165388720: 165388720
41 SCN2A NM_021007.2(SCN2A): c.56G> A (p.Arg19Lys) single nucleotide variant Benign rs17183814 GRCh37 Chromosome 2, 166152389: 166152389
42 SCN2A NM_021007.2(SCN2A): c.56G> A (p.Arg19Lys) single nucleotide variant Benign rs17183814 GRCh38 Chromosome 2, 165295879: 165295879
43 SCN2A NM_021007.2(SCN2A): c.5910G> A (p.Thr1970=) single nucleotide variant Benign/Likely benign rs75057869 GRCh37 Chromosome 2, 166246226: 166246226
44 SCN2A NM_021007.2(SCN2A): c.5910G> A (p.Thr1970=) single nucleotide variant Benign/Likely benign rs75057869 GRCh38 Chromosome 2, 165389716: 165389716
45 SCN2A NM_021007.2(SCN2A): c.5919C> T (p.Pro1973=) single nucleotide variant Benign rs73025979 GRCh37 Chromosome 2, 166246235: 166246235
46 SCN2A NM_021007.2(SCN2A): c.5919C> T (p.Pro1973=) single nucleotide variant Benign rs73025979 GRCh38 Chromosome 2, 165389725: 165389725
47 SCN2A NM_021007.2(SCN2A): c.2955C> T (p.Ser985=) single nucleotide variant Conflicting interpretations of pathogenicity rs149859004 GRCh37 Chromosome 2, 166210737: 166210737
48 SCN2A NM_021007.2(SCN2A): c.2955C> T (p.Ser985=) single nucleotide variant Conflicting interpretations of pathogenicity rs149859004 GRCh38 Chromosome 2, 165354227: 165354227
49 SCN2A NM_021007.2(SCN2A): c.3213A> C (p.Gly1071=) single nucleotide variant Benign/Likely benign rs199997352 GRCh37 Chromosome 2, 166210995: 166210995
50 SCN2A NM_021007.2(SCN2A): c.3213A> C (p.Gly1071=) single nucleotide variant Benign/Likely benign rs199997352 GRCh38 Chromosome 2, 165354485: 165354485

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 15)
# 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 9.81 GABRG2 KCNA1 SCN1A SCN2A
3 neuronal cell body GO:0043025 9.72 CHRNA4 KCNA1 SCN1A
4 voltage-gated potassium channel complex GO:0008076 9.67 KCNA1 KCNQ2 KCNQ3
5 integral component of presynaptic membrane GO:0099056 9.63 CHRNA4 KCNA1 SCN2A
6 intercalated disc GO:0014704 9.61 SCN1A SCN1B SCN2A
7 T-tubule GO:0030315 9.58 SCN1A SCN1B SCN2A
8 paranode region of axon GO:0033270 9.52 KCNA1 SCN2A
9 axon initial segment GO:0043194 9.43 KCNQ2 KCNQ3 SCN1A
10 voltage-gated sodium channel complex GO:0001518 9.33 SCN1A SCN1B SCN2A
11 sodium channel complex GO:0034706 9.13 SCN1A SCN1B SCN2A
12 node of Ranvier GO:0033268 9.02 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A
13 membrane GO:0016020 10.19 CHRNA4 GABRG2 KCNA1 KCNQ2 KCNQ3 SCN1A
14 integral component of membrane GO:0016021 10.13 CHRNA4 GABRG2 KCNA1 KCNQ2 KCNQ3 SCN1A
15 plasma membrane GO:0005886 10.02 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 9.83 KCNA1 KCNQ2 KCNQ3 SCN1A SCN2A
2 potassium ion transport GO:0006813 9.73 KCNA1 KCNQ2 KCNQ3
3 sodium ion transport GO:0006814 9.7 SCN1A SCN1B SCN2A
4 potassium ion transmembrane transport GO:0071805 9.69 KCNA1 KCNQ2 KCNQ3
5 ion transmembrane transport GO:0034220 9.65 CHRNA4 GABRG2 KCNQ2 SCN1A SCN2A
6 sodium ion transmembrane transport GO:0035725 9.63 SCN1A SCN1B SCN2A
7 chemical synaptic transmission GO:0007268 9.63 CHRNA4 GABRG2 KCNA1 KCNQ2 KCNQ3 SCN1B
8 regulation of membrane potential GO:0042391 9.62 CHRNA4 GABRG2 KCNA1 SCN1A
9 nervous system process GO:0050877 9.58 CHRNA4 GABRG2
10 regulation of postsynaptic membrane potential GO:0060078 9.58 CHRNA4 GABRG2 KCNA1
11 membrane depolarization GO:0051899 9.57 CHRNA4 SCN1B
12 cardiac muscle cell action potential involved in contraction GO:0086002 9.55 SCN1A SCN1B
13 membrane depolarization during action potential GO:0086010 9.54 SCN1A SCN2A
14 neuronal action potential GO:0019228 9.54 KCNA1 SCN1A SCN2A
15 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.49 KCNA1 SCN1A
16 neuronal action potential propagation GO:0019227 9.48 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 delayed rectifier potassium channel activity GO:0005251 9.5 KCNA1 KCNQ2 KCNQ3
4 extracellular ligand-gated ion channel activity GO:0005230 9.43 CHRNA4 GABRG2
5 sodium channel activity GO:0005272 9.43 SCN1A SCN1B SCN2A
6 ion channel activity GO:0005216 9.35 CHRNA4 GABRG2 KCNA1 SCN1A SCN2A
7 voltage-gated sodium channel activity GO:0005248 9.33 SCN1A SCN1B SCN2A
8 voltage-gated ion channel activity GO:0005244 9.1 KCNA1 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A

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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