BFIS3
MCID: SZR007
MIFTS: 45

Seizures, Benign Familial Infantile, 3 (BFIS3)

Categories: Eye diseases, Genetic diseases, Mental 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 72 29 13 6 70
Bfnis 57 20 58 72
Benign Familial Neonatal-Infantile Seizures 20 58 72
Seizures, Benign Familial Neonatal-Infantile 57 54
Bfis3 57 72
Bfic3 57 72
Seizures, Benign Familial Neonatal-Infantile; Bfnis 57
Convulsions, Benign Familial Infantile, 3; Bfic3 57
Benign Familial Neonatal-Infantile Epilepsy 72
Convulsions, Benign Familial Infantile, 3 57
Benign Familial Infantile Convulsions 3 72
Benign Familial Infantile Convulsions 20
Convulsions Benign Familial Neonatal 20
Epilepsy, Benign Neonatal-Infantile 20
Benign Neonatal-Infantile Epilepsy 58
Familial Benign Neonatal Epilepsy 70

Characteristics:

Orphanet epidemiological data:

58
benign familial neonatal-infantile seizures
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
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 in early childhood with no recurrence later in life


HPO:

31
seizures, benign familial infantile, 3:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 607745
OMIM Phenotypic Series 57 PS601764
MeSH 44 D020936
ICD10 via Orphanet 33 G40.4
UMLS via Orphanet 71 C0220669
Orphanet 58 ORPHA140927
MedGen 41 C1843140
UMLS 70 C0220669 C1843140

Summaries for Seizures, Benign Familial Infantile, 3

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 140927 Definition Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome 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.

MalaCards based summary : Seizures, Benign Familial Infantile, 3, also known as bfnis, is related to benign familial neonatal epilepsy and febrile seizures, 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 Neuropathic Pain-Signaling in Dorsal Horn Neurons and Neuroscience. Affiliated tissues include eye and brain, and related phenotypes are apnea and focal impaired awareness seizure

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). (607745) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 benign familial neonatal epilepsy 31.7 SCN2A KCNQ2
2 febrile seizures 30.1 SCN2A KCNQ2
3 benign neonatal seizures 30.0 SCN2A KCNQ2
4 seizure disorder 30.0 SCN2A KCNQ2 ATP1A2
5 benign familial infantile epilepsy 29.9 SCN2A KCNQ2 ATP1A2
6 early infantile epileptic encephalopathy 29.7 SCN2A KCNQ2 ATP1A2
7 epilepsy 29.4 SCN2A KCNQ2 ATP1A2
8 generalized epilepsy with febrile seizures plus 29.3 SCN2A KCNQ2 ATP1A2
9 epilepsy, idiopathic generalized 29.3 SCN2A KCNQ2 ATP1A2
10 migraine with or without aura 1 29.3 SCN2A KCNQ2 ATP1A2
11 seizures, benign familial neonatal, 2 11.5
12 seizures, benign familial neonatal, 3 11.5
13 seizures, benign familial infantile, 2 11.4
14 seizures, benign familial neonatal, 1 11.3
15 seizures, benign familial neonatal, autosomal recessive 11.3
16 myokymia with neonatal epilepsy 11.3
17 seizures, benign familial infantile, 5 11.3
18 convulsions, familial infantile, with paroxysmal choreoathetosis 11.3
19 episodic kinesigenic dyskinesia 1 11.3
20 seizures, benign familial infantile, 1 11.3
21 developmental and epileptic encephalopathy 11 10.3
22 focal epilepsy 10.3
23 kcnq2-related disorders 10.3
24 cyanosis, transient neonatal 10.2
25 paroxysmal choreoathetosis 10.2
26 paroxysmal dyskinesia 10.2
27 convulsions benign familial neonatal dominant form 10.1
28 infantile epilepsy syndrome 10.1
29 migraine, familial hemiplegic, 2 10.1
30 seizures, benign familial infantile, 4 10.1
31 vitamin b12 deficiency 10.1
32 familial hemiplegic migraine 10.1
33 migraine with aura 10.1
34 reflex epilepsy 10.1
35 atp1a3-related neurologic disorders 10.1
36 kcnq3-related disorders 10.1
37 prrt2-associated paroxysmal movement disorders 10.1
38 hypertonia 10.1
39 familial or sporadic hemiplegic migraine 10.1
40 argyria 10.1
41 partial motor epilepsy 9.9 SCN2A KCNQ2
42 early onset absence epilepsy 9.9 SCN2A KCNQ2
43 encephalopathy 9.9 SCN2A KCNQ2
44 landau-kleffner syndrome 9.9 SCN2A KCNQ2
45 adolescence-adult electroclinical syndrome 9.9 SCN2A KCNQ2
46 photosensitive epilepsy 9.9 SCN2A KCNQ2
47 childhood electroclinical syndrome 9.9 SCN2A KCNQ2
48 neonatal period electroclinical syndrome 9.9 SCN2A KCNQ2
49 lennox-gastaut syndrome 9.8 SCN2A KCNQ2
50 early myoclonic encephalopathy 9.8 SCN2A KCNQ2

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

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

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 apnea 31 HP:0002104
2 focal impaired awareness seizure 31 HP:0002384
3 cyanosis 31 HP:0000961
4 focal-onset seizure 31 HP:0007359
5 normal interictal eeg 31 HP:0002372
6 bilateral tonic-clonic seizure with focal onset 31 HP:0007334

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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


cyanosis

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.23 ATP1A2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-133 9.23 SCN2A
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-188 9.23 SCN2A
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.23 ATP1A2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.23 ATP1A2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.23 SCN2A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 9.23 SCN2A
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-9 9.23 SCN2A

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.8 ATP1A2 KCNQ2 SCN2A

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 Seizures, Benign Familial Infantile, 3 29 SCN2A

Anatomical Context for Seizures, Benign Familial Infantile, 3

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

40
Eye, Brain

Publications for Seizures, Benign Familial Infantile, 3

Articles related to Seizures, Benign Familial Infantile, 3:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. 61 57 6
15048894 2004
2
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 6 57
28379373 2017
3
Sodium-channel defects in benign familial neonatal-infantile seizures. 6 57
12243921 2002
4
Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity. 6 57
11326335 2001
5
A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. 57 6
11371648 2001
6
Benign familial neonatal seizures: clinical and electroencephalographic characteristics. 6 57
3508699 1986
7
Benign familial neonatal-infantile seizures. 6 57
6660252 1983
8
SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet. 6 61
29625812 2018
9
An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current. 61 6
23758435 2013
10
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 61 6
23360469 2013
11
Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures. 61 6
18479388 2008
12
Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures. 6 61
17021166 2006
13
Data on mutations and Clinical features in SCN1A or SCN2A gene. 6
30619928 2019
14
Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort. 6
29215089 2018
15
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 6
29100083 2017
16
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 6
29186148 2017
17
Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy. 6
27779742 2017
18
Genomic diagnosis for children with intellectual disability and/or developmental delay. 6
28554332 2017
19
SCN2A p.Ala263Val Variant a Phenotype of Neonatal Seizures Followed by Paroxysmal Ataxia in Toddlers. 6
28065826 2017
20
Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine. 6
27867041 2017
21
De novo genic mutations among a Chinese autism spectrum disorder cohort. 6
27824329 2016
22
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. 6
27781031 2016
23
Letter to the editor: confirming neonatal seizure and late onset ataxia in SCN2A Ala263Val. 6
27159988 2016
24
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 6
26993267 2016
25
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. 6
26645390 2016
26
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 6
26648591 2016
27
De novo R853Q mutation of SCN2A gene and West syndrome. 6
25772804 2015
28
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 6
26350204 2015
29
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. 6
26291284 2015
30
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 6
25818041 2015
31
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. 6
25937001 2015
32
De novo SCN2A splice site mutation in a boy with Autism spectrum disorder. 6
24650168 2014
33
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. 6
23935176 2013
34
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 6
23020937 2012
35
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 6
22495306 2012
36
SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. 6
20956790 2010
37
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. 6
20371507 2010
38
De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. 6
19786696 2009
39
Evidence of a third locus for benign familial convulsions. 57
8734025 1996
40
Searching for human epilepsy genes: a progress report. 57
8293192 1993
41
The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing. 61
29635106 2018
42
Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A. 61
27781028 2016
43
Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene. 61
24710820 2014
44
Clinical spectrum of SCN2A mutations. 61
22029951 2012
45
Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A. 61
21893419 2011
46
Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. 61
19783390 2009
47
A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1. 61
18479394 2008
48
Epileptic syndromes in infancy and childhood. 61
18317274 2008
49
A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel. 61
17467289 2007
50
SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. 61
17386050 2007

Variations for Seizures, Benign Familial Infantile, 3

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

6 (show top 50) (show all 630)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN2A NM_001040142.2(SCN2A):c.3988C>T (p.Leu1330Phe) SNV Pathogenic 12876 rs121917749 GRCh37: 2:166231210-166231210
GRCh38: 2:165374700-165374700
2 SCN2A NM_001040142.2(SCN2A):c.754A>G (p.Met252Val) SNV Pathogenic 29889 rs387906687 GRCh37: 2:166166889-166166889
GRCh38: 2:165310379-165310379
3 SCN2A NM_001040142.2(SCN2A):c.507del (p.Glu169fs) Deletion Pathogenic 801775 rs1574554892 GRCh37: 2:166165205-166165205
GRCh38: 2:165308695-165308695
4 SCN2A NM_001040142.2(SCN2A):c.3913dup (p.Leu1305fs) Duplication Pathogenic 976355 GRCh37: 2:166229795-166229796
GRCh38: 2:165373285-165373286
5 SCN2A NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln) SNV Pathogenic 12879 rs121917752 GRCh37: 2:166165924-166165924
GRCh38: 2:165309414-165309414
6 SCN2A NM_001040142.2(SCN2A):c.3007C>A (p.Leu1003Ile) SNV Pathogenic 12881 rs121917754 GRCh37: 2:166210789-166210789
GRCh38: 2:165354279-165354279
7 SCN2A NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val) SNV Pathogenic 410984 rs1060503101 GRCh37: 2:166245292-166245292
GRCh38: 2:165388782-165388782
8 SCN2A NM_001040142.2(SCN2A):c.1342C>T (p.Gln448Ter) SNV Pathogenic 464901 rs1553569054 GRCh37: 2:166170577-166170577
GRCh38: 2:165314067-165314067
9 SCN2A NM_001040142.2(SCN2A):c.4876C>T (p.Arg1626Ter) SNV Pathogenic 410985 rs1060503102 GRCh37: 2:166245192-166245192
GRCh38: 2:165388682-165388682
10 SCN2A NM_001040142.2(SCN2A):c.1198dup (p.Thr400fs) Duplication Pathogenic 410976 rs1553568927 GRCh37: 2:166170429-166170430
GRCh38: 2:165313919-165313920
11 SCN2A NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys) SNV Pathogenic 464912 rs1553463119 GRCh37: 2:166243470-166243470
GRCh38: 2:165386960-165386960
12 SCN2A NM_001040142.2(SCN2A):c.1529_1532AGAA[1] (p.Lys511fs) Microsatellite Pathogenic 533483 rs1553569662 GRCh37: 2:166172126-166172129
GRCh38: 2:165315616-165315619
13 SCN2A NM_001040142.2(SCN2A):c.3036del (p.Gly1013fs) Deletion Pathogenic 533484 rs1553583659 GRCh37: 2:166210816-166210816
GRCh38: 2:165354306-165354306
14 SCN2A NM_001040142.2(SCN2A):c.658A>G (p.Arg220Gly) SNV Pathogenic 567919 rs1559352550 GRCh37: 2:166165914-166165914
GRCh38: 2:165309404-165309404
15 SCN2A NM_001040142.2(SCN2A):c.4270dup (p.Trp1424fs) Duplication Pathogenic 533497 rs1553461662 GRCh37: 2:166234121-166234122
GRCh38: 2:165377611-165377612
16 SCN2A NM_001040142.2(SCN2A):c.5316del (p.Ile1772fs) Deletion Pathogenic 575820 rs1558886168 GRCh37: 2:166245632-166245632
GRCh38: 2:165389122-165389122
17 SCN2A NC_000002.12:g.(?_165365123)_(165389844_?)del Deletion Pathogenic 583829 GRCh37: 2:166221633-166246354
GRCh38: 2:165365123-165389844
18 SCN2A NM_001040142.2(SCN2A):c.1600A>T (p.Arg534Ter) SNV Pathogenic 620037 GRCh37: 2:166172197-166172197
GRCh38: 2:165315687-165315687
19 SCN2A NM_001040142.2(SCN2A):c.962_970+1del Deletion Pathogenic 579666 rs1559353540 GRCh37: 2:166167096-166167105
GRCh38: 2:165310586-165310595
20 SCN2A NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter) SNV Pathogenic 436662 rs1553579225 GRCh37: 2:166201068-166201068
GRCh38: 2:165344558-165344558
21 SCN2A NM_001040142.2(SCN2A):c.573G>T (p.Trp191Cys) SNV Pathogenic 643515 rs1553567381 GRCh37: 2:166165272-166165272
GRCh38: 2:165308762-165308762
22 SCN2A NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln) SNV Pathogenic 12879 rs121917752 GRCh37: 2:166165924-166165924
GRCh38: 2:165309414-165309414
23 SCN2A NM_001040142.2(SCN2A):c.4886G>T (p.Arg1629Leu) SNV Pathogenic 660961 rs796053157 GRCh37: 2:166245202-166245202
GRCh38: 2:165388692-165388692
24 SCN2A NM_001040142.2(SCN2A):c.4350T>G (p.Tyr1450Ter) SNV Pathogenic 665987 rs1574731232 GRCh37: 2:166237143-166237143
GRCh38: 2:165380633-165380633
25 SCN2A NM_001040142.2(SCN2A):c.1530_1531del (p.Lys511fs) Deletion Pathogenic 848365 GRCh37: 2:166172126-166172127
GRCh38: 2:165315616-165315617
26 SCN2A NM_001040142.2(SCN2A):c.1019dup (p.Asn340fs) Duplication Pathogenic 848371 GRCh37: 2:166168581-166168582
GRCh38: 2:165312071-165312072
27 SCN2A NM_001040142.2(SCN2A):c.4389dup (p.Thr1464fs) Duplication Pathogenic 857716 GRCh37: 2:166237179-166237180
GRCh38: 2:165380669-165380670
28 SCN2A NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter) SNV Pathogenic 946767 GRCh37: 2:166166978-166166978
GRCh38: 2:165310468-165310468
29 SCN2A NM_001040142.2(SCN2A):c.1363A>T (p.Lys455Ter) SNV Pathogenic 955765 GRCh37: 2:166170598-166170598
GRCh38: 2:165314088-165314088
30 SCN2A NM_001040142.2(SCN2A):c.7C>T (p.Gln3Ter) SNV Pathogenic 962441 GRCh37: 2:166152340-166152340
GRCh38: 2:165295830-165295830
31 SCN2A NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp) SNV Pathogenic 410982 rs190111194 GRCh37: 2:166229840-166229840
GRCh38: 2:165373330-165373330
32 SCN2A NM_001040142.2(SCN2A):c.3374del (p.Glu1125fs) Deletion Pathogenic 130220 rs587780450 GRCh37: 2:166211156-166211156
GRCh38: 2:165354646-165354646
33 SCN2A NM_001040142.2(SCN2A):c.2877C>A (p.Cys959Ter) SNV Pathogenic 410979 rs746163041 GRCh37: 2:166201379-166201379
GRCh38: 2:165344869-165344869
34 SCN2A NM_001040142.2(SCN2A):c.4844_4845del (p.Ile1615fs) Deletion Pathogenic 650150 rs1574751309 GRCh37: 2:166245159-166245160
GRCh38: 2:165388649-165388650
35 SCN2A NM_001040142.2(SCN2A):c.2734_2735insTTGTGTCT (p.Cys912fs) Microsatellite Pathogenic 965048 GRCh37: 2:166201229-166201230
GRCh38: 2:165344719-165344720
36 SCN2A NM_001040142.2(SCN2A):c.4687C>G (p.Leu1563Val) SNV Pathogenic 12877 rs121917750 GRCh37: 2:166243391-166243391
GRCh38: 2:165386881-165386881
37 SCN2A NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) SNV Pathogenic 12878 rs121917751 GRCh37: 2:166201176-166201176
GRCh38: 2:165344666-165344666
38 SCN2A NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln) SNV Pathogenic 12880 GRCh37: 2:166229841-166229841
GRCh38: 2:165373331-165373331
39 SCN2A NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) SNV Pathogenic 29886 rs387906684 GRCh37: 2:166223837-166223837
GRCh38: 2:165367327-165367327
40 SCN2A NM_001040142.2(SCN2A):c.1147C>G (p.Gln383Glu) SNV Pathogenic 207050 rs796053178 GRCh37: 2:166170242-166170242
GRCh38: 2:165313732-165313732
41 SCN2A NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) SNV Pathogenic 419721 rs796053138 GRCh37: 2:166234155-166234155
GRCh38: 2:165377645-165377645
42 SCN2A NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter) SNV Pathogenic 207041 rs181327458 GRCh37: 2:166166958-166166958
GRCh38: 2:165310448-165310448
43 SCN2A NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys) SNV Pathogenic 207080 rs796053197 GRCh37: 2:166201311-166201311
GRCh38: 2:165344801-165344801
44 SCN2A NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) SNV Pathogenic 29886 rs387906684 GRCh37: 2:166223837-166223837
GRCh38: 2:165367327-165367327
45 SCN2A NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val) SNV Pathogenic 449147 GRCh37: 2:166165304-166165304
GRCh38: 2:165308794-165308794
46 SCN2A NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln) SNV Pathogenic 207017 rs796053155 GRCh37: 2:166245193-166245193
GRCh38: 2:165388683-165388683
47 SCN2A NM_001040142.2(SCN2A):c.2627A>G (p.Asn876Ser) SNV Pathogenic 449958 rs1553579282 GRCh37: 2:166201129-166201129
GRCh38: 2:165344619-165344619
48 SCN2A NM_001040142.2(SCN2A):c.781G>A (p.Val261Met) SNV Pathogenic 378927 rs1057520413 GRCh37: 2:166166916-166166916
GRCh38: 2:165310406-165310406
49 SCN2A NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) SNV Pathogenic 194555 rs794727152 GRCh37: 2:166198975-166198975
GRCh38: 2:165342465-165342465
50 SCN2A NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln) SNV Pathogenic 12880 GRCh37: 2:166229841-166229841
GRCh38: 2:165373331-165373331

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

72 (show all 14)
# 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 rs155346311
14 SCN2A p.Lys908Glu VAR_081434 rs796053122

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

7
# CNVD ID Chromosome 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.85 SCN2A ATP1A2
2 11.69 SCN2A KCNQ2
3
Show member pathways
11.05 SCN2A KCNQ2
4 10.1 SCN2A KCNQ2

GO Terms for Seizures, Benign Familial Infantile, 3

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

# Name GO ID Score Top Affiliating Genes
1 intercalated disc GO:0014704 9.16 SCN2A ATP1A2
2 T-tubule GO:0030315 8.96 SCN2A ATP1A2
3 node of Ranvier GO:0033268 8.62 SCN2A KCNQ2

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

# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.43 SCN2A KCNQ2
2 potassium ion transport GO:0006813 9.4 KCNQ2 ATP1A2
3 potassium ion transmembrane transport GO:0071805 9.37 KCNQ2 ATP1A2
4 sodium ion transport GO:0006814 9.32 SCN2A ATP1A2
5 sodium ion transmembrane transport GO:0035725 9.26 SCN2A ATP1A2
6 cation transmembrane transport GO:0098655 9.16 SCN2A ATP1A2
7 ion transport GO:0006811 9.13 SCN2A KCNQ2 ATP1A2
8 ion transmembrane transport GO:0034220 8.8 SCN2A KCNQ2 ATP1A2

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

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 8.96 SCN2A KCNQ2
2 voltage-gated ion channel activity GO:0005244 8.62 SCN2A KCNQ2

Sources for Seizures, Benign Familial Infantile, 3

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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