BFIC
MCID: BNG023
MIFTS: 45

Benign Familial Infantile Epilepsy (BFIC)

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 76 53 59 15
Benign Familial Infantile Seizures 12 59 13
Bfie 12 59
Benign Familial Infantile Convulsions 59
Benign Familial Infantile Convulsion 12
Familial Benign Neonatal Epilepsy 73
Bfic 12
Bfis 59

Characteristics:

Orphanet epidemiological data:

59
benign familial infantile epilepsy
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
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 episodic kinesigenic dyskinesia 1 and convulsions, familial infantile, with paroxysmal choreoathetosis, 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, eye and thyroid, and related phenotypes are seizures and muscular hypotonia

Wikipedia : 76 Benign familial infantile epilepsy (BFIE), also known as benign familial infantile seizures (BFIS) or... more...

Related Diseases for Benign Familial Infantile Epilepsy

Diseases in the Epilepsy family:

Benign Familial Infantile Epilepsy Depdc5-Related Epilepsy

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 episodic kinesigenic dyskinesia 1 32.3 PRKD1 PRRT2
2 convulsions, familial infantile, with paroxysmal choreoathetosis 32.3 PRRT2 SCN8A
3 seizures, benign familial neonatal, 2 31.9 KCNQ2 KCNQ3
4 seizures, benign familial infantile, 3 31.7 KCNQ2 KCNQ3 SCN1B SCN2A
5 hemiplegic migraine 30.1 ATP1A2 PRRT2
6 febrile seizures 30.0 KCNQ2 SCN1B STX1B
7 episodic ataxia 30.0 ATP1A2 PRRT2 SCN2A
8 seizure disorder 30.0 KCNQ2 PNPO SCN2A
9 epilepsy 29.0 ATP1A2 CHRNA2 KCNQ2 KCNQ3 PNPO PRRT2
10 seizures, benign familial infantile, 1 11.6
11 seizures, benign familial neonatal, 1 11.3
12 seizures, benign familial infantile, 2 11.2
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 11.1
17 scn2a related disorders 11.1
18 early onset absence epilepsy 10.1 PRRT2 SCN1B
19 coffin-siris syndrome 4 10.1 SCN2A SCN8A
20 benign neonatal seizures 10.1 KCNQ2 KCNQ3 SCN2A
21 familial or sporadic hemiplegic migraine 10.1 ATP1A2 PRRT2
22 focal epilepsy 10.1 CHRNA2 SCN2A SCN8A
23 west syndrome 10.1 KCNQ2 SCN2A SCN8A
24 early infantile epileptic encephalopathy 10.0 KCNQ2 SCN2A SCN8A
25 infancy electroclinical syndrome 10.0 KCNQ2 PRRT2 SCN1B SCN2A
26 pelvic inflammatory disease 10.0
27 borderline personality disorder 10.0
28 personality disorder 10.0
29 thyroid cancer 10.0
30 constipation 10.0
31 epilepsy, idiopathic generalized 10 10.0 GABRA6 KCNQ3 SCN2A
32 vitamin b12 deficiency 10.0
33 epilepsy, idiopathic generalized 10.0 KCNQ2 KCNQ3 SCN1B SCN2A
34 epilepsy, nocturnal frontal lobe, 1 10.0 CHRNA2 KCNQ2 KCNQ3 SCN1B
35 paroxysmal choreoathetosis 9.9
36 benign epilepsy with centrotemporal spikes 9.9 KCNQ2 KCNQ3 PRRT2 SCN1B SCN2A
37 benign familial neonatal epilepsy 9.8 GABRA6 KCNQ2 KCNQ3 PRRT2 SCN2A
38 long qt syndrome 9.8 KCNQ2 KCNQ3 SCN1B
39 visual epilepsy 9.8 KCNQ2 PNPO PRRT2 SCN2A
40 generalized epilepsy with febrile seizures plus 9.7 KCNQ2 KCNQ3 SCN1B SCN2A SCN8A STX1B
41 neonatal period electroclinical syndrome 9.7 KCNQ2 KCNQ3 PNPO SCN2A SCN8A
42 epileptic encephalopathy, early infantile, 6 9.6 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:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
3 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
4 dysphasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002357
5 hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0000738
6 dyskinesia 59 32 frequent (33%) Frequent (79-30%) HP:0100660
7 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
8 reduced consciousness/confusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0004372
9 fatigue 59 32 occasional (7.5%) Occasional (29-5%) HP:0012378
10 abnormality of vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000504
11 myoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001336
12 migraine 59 32 occasional (7.5%) Occasional (29-5%) HP:0002076
13 memory impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002354
14 deeply set eye 59 32 hallmark (90%) Very frequent (99-80%) HP:0000490
15 choreoathetosis 59 32 frequent (33%) Frequent (79-30%) HP:0001266
16 dysesthesia 59 32 frequent (33%) Frequent (79-30%) HP:0012534
17 abnormality of the eye 59 Very frequent (99-80%)
18 abnormality of movement 59 Very frequent (99-80%)

UMLS symptoms related to Benign Familial Infantile Epilepsy:


cyanosis

MGI Mouse Phenotypes related to Benign Familial Infantile Epilepsy:

46
# 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:

41
Brain, Eye, Thyroid

Publications for Benign Familial Infantile Epilepsy

Articles related to Benign Familial Infantile Epilepsy:

(show all 13)
# 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
A Novel Inherited Mutation of<i>SCN8A</i>in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing. ( 29263050 )
2017
4
Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE). ( 28566192 )
2017
5
[Phenotypes and PRRT2 mutation analysis in families with benign familial infantile epilepsy]. ( 25582463 )
2014
6
Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis. ( 24370076 )
2013
7
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. ( 22243967 )
2012
8
A novel genetic locus for benign familial infantile seizures maps to chromosome 1p36.12-p35.1. ( 18811698 )
2008
9
Benign familial infantile seizures. ( 15737697 )
2005
10
Clinical and genetic study on a new Chinese family with benign familial infantile seizures. ( 15804263 )
2005
11
Benign familial infantile seizures: further delineation of the syndrome. ( 12503648 )
2002
12
Benign familial infantile epilepsy. ( 8021777 )
1994
13
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 chemical synaptic transmission GO:0007268 9.65 CHRNA2 GABRA6 KCNQ2 KCNQ3 SCN1B
5 sodium ion transport GO:0006814 9.62 ATP1A2 SCN1B SCN2A SCN8A
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 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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