MCID: BNG023
MIFTS: 43

Benign Familial Infantile Epilepsy

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Benign Familial Infantile Epilepsy

MalaCards integrated aliases for Benign Familial Infantile Epilepsy:

Name: Benign Familial Infantile Epilepsy 12 77 54 60 15
Benign Familial Infantile Seizures 12 60
Bfie 12 60
Benign Familial Infantile Convulsions 60
Benign Familial Infantile Convulsion 12
Familial Benign Neonatal Epilepsy 74
Bfic 12
Bfis 60

Characteristics:

Orphanet epidemiological data:

60
benign familial infantile epilepsy
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Benign Familial Infantile Epilepsy

Disease Ontology : 12 An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months.

MalaCards based summary : Benign Familial Infantile Epilepsy, also known as benign familial infantile seizures, is related to convulsions, familial infantile, with paroxysmal choreoathetosis and seizures, benign familial neonatal, 2, and has symptoms including cyanosis An important gene associated with Benign Familial Infantile Epilepsy is PRRT2 (Proline Rich Transmembrane Protein 2), and among its related pathways/superpathways are Developmental Biology and Cardiac conduction. Affiliated tissues include brain and eye, and related phenotypes are seizures and reduced consciousness/confusion

Wikipedia : 77 Benign familial infantile epilepsy (BFIE) is an epilepsy syndrome. Affected children, who have no other... more...

Related Diseases for Benign Familial Infantile Epilepsy

Diseases in the Epilepsy family:

Benign Familial Infantile Epilepsy Depdc5-Related Epilepsy
Kcnt1-Related Epilepsy

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 convulsions, familial infantile, with paroxysmal choreoathetosis 33.0 PRRT2 SCN8A
2 seizures, benign familial neonatal, 2 32.1 KCNQ2 KCNQ3
3 seizures, benign familial infantile, 3 31.8 KCNQ2 KCNQ3 SCN1B SCN2A
4 hemiplegic migraine 30.2 ATP1A2 PRRT2
5 febrile seizures 30.1 KCNQ2 SCN1B STX1B
6 episodic ataxia 30.0 ATP1A2 PRRT2 SCN2A
7 episodic kinesigenic dyskinesia 1 29.9 PRKD1 PRRT2
8 seizure disorder 29.9 KCNQ2 PNPO SCN2A
9 epilepsy 28.2 ATP1A2 CHRNA2 KCNQ2 KCNQ3 PNPO PRRT2
10 seizures, benign familial infantile, 1 11.7
11 seizures, benign familial infantile, 2 11.5
12 seizures, benign familial neonatal, 1 11.3
13 epilepsy, nocturnal frontal lobe, 4 11.2
14 seizures, benign familial infantile, 5 11.2
15 familial hemiplegic migraine 11.2
16 paroxysmal exertion-induced dyskinesia 11.2
17 scn2a related disorders 11.2
18 early onset absence epilepsy 10.2 PRRT2 SCN1B
19 coffin-siris syndrome 4 10.2 SCN2A SCN8A
20 benign neonatal seizures 10.1 KCNQ2 KCNQ3 SCN2A
21 focal epilepsy 10.1 CHRNA2 SCN2A SCN8A
22 familial or sporadic hemiplegic migraine 10.1 ATP1A2 PRRT2
23 west syndrome 10.1 KCNQ2 SCN2A SCN8A
24 early infantile epileptic encephalopathy 10.1 KCNQ2 SCN2A SCN8A
25 infancy electroclinical syndrome 10.0 KCNQ2 PRRT2 SCN1B SCN2A
26 ataxia and polyneuropathy, adult-onset 10.0
27 generalized epilepsy with febrile seizures plus, type 9 10.0
28 pelvic inflammatory disease 10.0
29 borderline personality disorder 10.0
30 personality disorder 10.0
31 thyroid cancer 10.0
32 constipation 10.0
33 epilepsy, idiopathic generalized 10 10.0 GABRA6 KCNQ3 SCN2A
34 migraine, familial hemiplegic, 2 10.0
35 vitamin b12 deficiency 10.0
36 epilepsy, idiopathic generalized 10.0 KCNQ2 KCNQ3 SCN1B SCN2A
37 epilepsy, nocturnal frontal lobe, 1 10.0 CHRNA2 KCNQ2 KCNQ3 SCN1B
38 paroxysmal choreoathetosis 9.9
39 gastroenteritis 9.9
40 long qt syndrome 9.9 KCNQ2 KCNQ3 SCN1B
41 benign epilepsy with centrotemporal spikes 9.9 KCNQ2 KCNQ3 PRRT2 SCN1B SCN2A
42 migraine with aura 9.8 ATP1A2 PRRT2
43 benign familial neonatal epilepsy 9.8 GABRA6 KCNQ2 KCNQ3 PRRT2 SCN2A
44 visual epilepsy 9.7 KCNQ2 PNPO PRRT2 SCN2A
45 generalized epilepsy with febrile seizures plus 9.6 KCNQ2 KCNQ3 SCN1B SCN2A SCN8A STX1B
46 neonatal period electroclinical syndrome 9.5 KCNQ2 KCNQ3 PNPO SCN2A SCN8A
47 epileptic encephalopathy, early infantile, 6 9.4 KCNQ2 KCNQ3 PNPO SCN1B SCN2A SCN8A

Graphical network of the top 20 diseases related to Benign Familial Infantile Epilepsy:



Diseases related to Benign Familial Infantile Epilepsy

Symptoms & Phenotypes for Benign Familial Infantile Epilepsy

Human phenotypes related to Benign Familial Infantile Epilepsy:

60 33 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 reduced consciousness/confusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0004372
3 abnormality of vision 60 33 hallmark (90%) Very frequent (99-80%) HP:0000504
4 myoclonus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001336
5 deeply set eye 60 33 hallmark (90%) Very frequent (99-80%) HP:0000490
6 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
7 dyskinesia 60 33 frequent (33%) Frequent (79-30%) HP:0100660
8 hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0001276
9 choreoathetosis 60 33 frequent (33%) Frequent (79-30%) HP:0001266
10 dysesthesia 60 33 frequent (33%) Frequent (79-30%) HP:0012534
11 nausea and vomiting 60 33 occasional (7.5%) Occasional (29-5%) HP:0002017
12 dysphasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002357
13 hallucinations 60 33 occasional (7.5%) Occasional (29-5%) HP:0000738
14 fatigue 60 33 occasional (7.5%) Occasional (29-5%) HP:0012378
15 migraine 60 33 occasional (7.5%) Occasional (29-5%) HP:0002076
16 memory impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002354
17 abnormality of the eye 60 Very frequent (99-80%)
18 abnormality of movement 60 Very frequent (99-80%)

UMLS symptoms related to Benign Familial Infantile Epilepsy:


cyanosis

MGI Mouse Phenotypes related to Benign Familial Infantile Epilepsy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 ATP1A2 CLCN6 GABRA6 KCNQ2 KCNQ3 PRRT2
2 nervous system MP:0003631 9.36 ATP1A2 CHRNA2 CLCN6 GABRA6 KCNQ2 KCNQ3

Drugs & Therapeutics for Benign Familial Infantile Epilepsy

Search Clinical Trials , NIH Clinical Center for Benign Familial Infantile Epilepsy

Genetic Tests for Benign Familial Infantile Epilepsy

Anatomical Context for Benign Familial Infantile Epilepsy

MalaCards organs/tissues related to Benign Familial Infantile Epilepsy:

42
Brain, Eye

Publications for Benign Familial Infantile Epilepsy

Articles related to Benign Familial Infantile Epilepsy:

(show all 21)
# Title Authors Year
1
A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures. ( 29167286 )
2018
2
A PRRT2 variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction with STX1B. ( 30009426 )
2018
3
Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE). ( 28566192 )
2017
4
A Novel Inherited Mutation of SCN8A in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing. ( 29263050 )
2017
5
Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy. ( 25847220 )
2015
6
Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene. ( 25060993 )
2014
7
[Phenotypes and PRRT2 mutation analysis in families with benign familial infantile epilepsy]. ( 25582463 )
2014
8
Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis. ( 24370076 )
2013
9
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. ( 22243967 )
2012
10
PRRT2 mutations are the major cause of benign familial infantile seizures. ( 22623405 )
2012
11
Two faces of the same coin: benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations. ( 22782515 )
2012
12
Mutation detection in candidate genes for benign familial infantile seizures on a novel locus. ( 20374090 )
2010
13
A novel genetic locus for benign familial infantile seizures maps to chromosome 1p36.12-p35.1. ( 18811698 )
2008
14
A novel SCN2A mutation in family with benign familial infantile seizures. ( 16417554 )
2006
15
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families. ( 16822249 )
2006
16
Benign familial infantile seizures. ( 15737697 )
2005
17
Clinical and genetic study on a new Chinese family with benign familial infantile seizures. ( 15804263 )
2005
18
No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures. ( 16026932 )
2005
19
Benign familial infantile seizures: further delineation of the syndrome. ( 12503648 )
2002
20
Benign familial infantile epilepsy. ( 8021777 )
1994
21
Benign familial infantile epilepsy. ( 8410514 )
1993

Variations for Benign Familial Infantile Epilepsy

Expression for Benign Familial Infantile Epilepsy

Search GEO for disease gene expression data for Benign Familial Infantile Epilepsy.

Pathways for Benign Familial Infantile Epilepsy

Pathways related to Benign Familial Infantile Epilepsy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.06 KCNQ2 KCNQ3 SCN1B SCN2A SCN8A STX1B
2
Show member pathways
12.43 ATP1A2 SCN1B SCN2A SCN8A
3
Show member pathways
12.22 ATP1A2 CLCN6 PRKD1 SCN1B SCN2A SCN8A
4 12.16 KCNQ2 SCN1B SCN2A SCN8A
5 11.96 KCNQ2 KCNQ3 PRKD1
6
Show member pathways
11.45 KCNQ2 KCNQ3 SCN1B SCN2A SCN8A
7
Show member pathways
11.31 SCN1B SCN2A SCN8A
8 10.5 KCNQ2 KCNQ3 SCN1B SCN2A SCN8A

GO Terms for Benign Familial Infantile Epilepsy

Cellular components related to Benign Familial Infantile Epilepsy according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.8 ATP1A2 CHRNA2 GABRA6 PRRT2
2 axon GO:0030424 9.76 PRRT2 SCN2A SCN8A STX1B
3 intercalated disc GO:0014704 9.5 ATP1A2 SCN1B SCN2A
4 T-tubule GO:0030315 9.43 ATP1A2 SCN1B SCN2A
5 sodium channel complex GO:0034706 9.37 SCN1B SCN2A
6 axon initial segment GO:0043194 9.33 KCNQ2 KCNQ3 SCN8A
7 voltage-gated sodium channel complex GO:0001518 9.13 SCN1B SCN2A SCN8A
8 node of Ranvier GO:0033268 9.02 KCNQ2 KCNQ3 SCN1B SCN2A SCN8A
9 membrane GO:0016020 10.26 ATP1A2 CHRNA2 CLCN6 GABRA6 KCNQ2 KCNQ3
10 integral component of membrane GO:0016021 10.17 ATP1A2 CHRNA2 CLCN6 GABRA6 KCNQ2 KCNQ3
11 plasma membrane GO:0005886 10.14 ATP1A2 CHRNA2 GABRA6 KCNQ2 KCNQ3 PRKD1

Biological processes related to Benign Familial Infantile Epilepsy according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.84 KCNQ2 PRKD1 SCN2A SCN8A
2 transmembrane transport GO:0055085 9.83 CLCN6 KCNQ2 KCNQ3 SCN2A SCN8A
3 potassium ion transport GO:0006813 9.69 ATP1A2 KCNQ2 KCNQ3
4 sodium ion transport GO:0006814 9.62 ATP1A2 SCN1B SCN2A SCN8A
5 chemical synaptic transmission GO:0007268 9.56 CHRNA2 GABRA6 KCNQ2 KCNQ3
6 cardiac muscle contraction GO:0060048 9.55 ATP1A2 SCN1B
7 regulation of ion transmembrane transport GO:0034765 9.55 KCNQ2 KCNQ3 SCN1B SCN2A SCN8A
8 sodium ion transmembrane transport GO:0035725 9.54 SCN1B SCN2A SCN8A
9 neuronal action potential GO:0019228 9.52 SCN2A SCN8A
10 membrane depolarization during action potential GO:0086010 9.49 SCN2A SCN8A
11 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 9.48 PRRT2 STX1B
12 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.46 ATP1A2 SCN1B
13 ion transmembrane transport GO:0034220 9.43 CHRNA2 CLCN6 GABRA6 KCNQ2 SCN2A SCN8A
14 locomotion GO:0040011 9.4 ATP1A2 SCN1B
15 ion transport GO:0006811 9.28 ATP1A2 CHRNA2 CLCN6 GABRA6 KCNQ2 KCNQ3

Molecular functions related to Benign Familial Infantile Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.56 CHRNA2 GABRA6 SCN2A SCN8A
2 sodium channel activity GO:0005272 9.33 SCN1B SCN2A SCN8A
3 delayed rectifier potassium channel activity GO:0005251 9.32 KCNQ2 KCNQ3
4 voltage-gated sodium channel activity GO:0005248 9.13 SCN1B SCN2A SCN8A
5 voltage-gated ion channel activity GO:0005244 9.02 KCNQ2 KCNQ3 SCN1B SCN2A SCN8A

Sources for Benign Familial Infantile Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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