BFIC
MCID: BNG023
MIFTS: 44

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 75 53 59 15
Benign Familial Infantile Seizures 12 59
Bfie 12 59
Benign Familial Infantile Convulsions 59
Benign Familial Infantile Convulsion 12
Familial Benign Neonatal Epilepsy 72
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


External Ids:

Disease Ontology 12 DOID:0060169
ICD10 via Orphanet 34 G40.3
UMLS via Orphanet 73 C0220669
Orphanet 59 ORPHA306
UMLS 72 C0220669

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 Transmission across Chemical Synapses. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are seizures and reduced consciousness/confusion

Wikipedia : 75 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 Infectious Disease with Epilepsy
Inflammatory and Autoimmune Disease with Epilepsy Infantile Epilepsy Syndrome
Rare Epilepsy

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

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 convulsions, familial infantile, with paroxysmal choreoathetosis 33.6 SCN8A PRRT2
2 seizures, benign familial neonatal, 2 32.6 KCNQ3 KCNQ2
3 seizures, benign familial infantile, 3 32.2 SCN2A SCN1B KCNQ3 KCNQ2
4 focal epilepsy 30.7 SCN8A SCN2A CHRNA2
5 familial or sporadic hemiplegic migraine 30.7 PRRT2 ATP1A2
6 paroxysmal choreoathetosis 30.6 PRRT2 PNKD
7 visual epilepsy 30.5 SCN2A PRRT2 KCNQ2
8 episodic ataxia 30.5 SCN2A PRRT2 ATP1A2
9 benign neonatal seizures 30.4 SCN2A KCNQ3 KCNQ2
10 febrile seizures 30.2 STX1B SCN1B KCNQ2
11 epilepsy, idiopathic generalized 30.1 SCN2A SCN1B KCNQ3 KCNQ2
12 benign familial neonatal epilepsy 29.7 SCN2A PRRT2 KCNQ3 KCNQ2 GABRA6
13 generalized epilepsy with febrile seizures plus 29.0 STX1B SCN8A SCN2A SCN1B KCNQ3 KCNQ2
14 episodic kinesigenic dyskinesia 1 29.0 SNAP25 PRRT2 PRKD1 PNKD
15 epilepsy 28.3 STX1B SCN8A SCN2A SCN1B PRRT2 KCNQ3
16 seizures, benign familial infantile, 2 11.6
17 seizures, benign familial neonatal, 1 11.4
18 epilepsy, nocturnal frontal lobe, 4 11.3
19 seizures, benign familial infantile, 5 11.3
20 familial hemiplegic migraine 11.3
21 paroxysmal exertion-induced dyskinesia 11.3
22 scn2a related disorders 11.3
23 familial paroxysmal nonkinesigenic dyskinesia 10.5 PRRT2 PNKD
24 episodic kinesigenic dyskinesia 2 10.5 PRRT2 PNKD
25 early onset absence epilepsy 10.4 SCN1B PRRT2
26 infantile epilepsy syndrome 10.4
27 coffin-siris syndrome 4 10.3 SCN8A SCN2A
28 west syndrome 10.2 SCN8A SCN2A KCNQ2
29 infancy electroclinical syndrome 10.2 SCN2A SCN1B PRRT2 KCNQ2
30 early infantile epileptic encephalopathy 10.2 SCN8A SCN2A KCNQ2
31 neonatal period electroclinical syndrome 10.2 SCN8A SCN2A KCNQ3 KCNQ2
32 seizure disorder 10.2
33 epilepsy, nocturnal frontal lobe, 1 10.1 SCN1B KCNQ3 KCNQ2 CHRNA2
34 choreatic disease 10.1 PRRT2 PNKD
35 cyanosis, transient neonatal 10.1
36 paroxysmal dyskinesia 10.1
37 epilepsy, idiopathic generalized 10 10.1 SCN2A KCNQ3 GABRA6
38 prrt2-associated paroxysmal movement disorders 10.1
39 thyroid cancer, nonmedullary, 1 10.0
40 ataxia and polyneuropathy, adult-onset 10.0
41 body mass index quantitative trait locus 1 10.0
42 generalized epilepsy with febrile seizures plus, type 9 10.0
43 borderline personality disorder 10.0
44 avoidant personality disorder 10.0
45 personality disorder 10.0
46 constipation 10.0
47 thyroid gland papillary carcinoma 10.0
48 severe combined immunodeficiency 10.0
49 pseudobulbar affect 10.0
50 genetic epilepsy with febrile seizures plus 10.0

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 reduced consciousness/confusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0004372
3 abnormality of vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000504
4 myoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001336
5 deeply set eye 59 32 hallmark (90%) Very frequent (99-80%) HP:0000490
6 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
7 dyskinesia 59 32 frequent (33%) Frequent (79-30%) HP:0100660
8 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
9 choreoathetosis 59 32 frequent (33%) Frequent (79-30%) HP:0001266
10 dysesthesia 59 32 frequent (33%) Frequent (79-30%) HP:0012534
11 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
12 dysphasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002357
13 hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0000738
14 fatigue 59 32 occasional (7.5%) Occasional (29-5%) HP:0012378
15 memory impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002354
16 migraine 59 32 occasional (7.5%) Occasional (29-5%) HP:0002076
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 9.97 ATP1A2 CLCN6 GABRA6 KCNQ2 KCNQ3 LGI4
2 mortality/aging MP:0010768 9.7 ATP1A2 KCNQ2 KCNQ3 LGI4 PRKD1 RHBDF2
3 nervous system MP:0003631 9.5 ATP1A2 CHRNA2 CLCN6 GABRA6 KCNQ2 KCNQ3

Drugs & Therapeutics for Benign Familial Infantile Epilepsy

Drugs for Benign Familial Infantile Epilepsy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3 Neurotransmitter Agents Phase 4
4 Central Nervous System Stimulants Phase 4
5 Lisdexamfetamine Dimesylate Phase 4
6 Neurotransmitter Uptake Inhibitors Phase 4
7 Dopamine Agents Phase 4
8 Dopamine Uptake Inhibitors Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatments for Fathers With Attention Deficit/Hyperactivity Disorder (ADHD) and Their At-Risk Children (Fathers Too) Completed NCT02675400 Phase 4 Vyvanse;Methylphenidate

Search 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

Publications for Benign Familial Infantile Epilepsy

Articles related to Benign Familial Infantile Epilepsy:

(show all 46)
# Title Authors PMID Year
1
PRRT2-Associated Paroxysmal Movement Disorders 38 71
29334453 2018
2
Autosomal dominant SCN8A mutation with an unusually mild phenotype. 38 71
27210545 2016
3
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. 38 71
22243967 2012
4
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. 71
26677014 2016
5
PRRT2 and hemiplegic migraine: a complex association. 71
24928127 2014
6
PRRT2 mutations are the major cause of benign familial infantile seizures. 71
22623405 2012
7
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. 71
22744660 2012
8
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. 71
22399141 2012
9
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. 71
22120146 2011
10
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. 71
22101681 2011
11
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 71
20298421 2010
12
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. 71
20371507 2010
13
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. 71
15048894 2004
14
Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. 71
12953268 2003
15
Sodium-channel defects in benign familial neonatal-infantile seizures. 71
12243921 2002
16
Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity. 71
11326335 2001
17
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. 71
11371648 2001
18
Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome. 71
9579893 1997
19
Benign familial neonatal seizures: clinical and electroencephalographic characteristics. 71
3508699 1986
20
Benign familial neonatal-infantile seizures. 71
6660252 1983
21
Paroxysmal and cognitive phenotypes in Prrt2 mutant mice. 38
30884140 2019
22
Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies. 38
31193310 2019
23
[Phenotype study of SCN2A gene related epilepsy]. 38
29996185 2018
24
Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort. 38
29215089 2018
25
A Novel Inherited Mutation of SCN8A in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing. 38
29263050 2017
26
[PRRT2 mutation and infantile convulsions]. 38
28870817 2017
27
Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE). 38
28566192 2017
28
A Novel Truncation Mutation of the PRRT2 Gene Resulting in a 16-Amino-Acid Protein Causes Self-inducible Paroxysmal Kinesigenic Dyskinesia. 38
30713971 2017
29
A female patient with a hot spot mutation of PRRT2 gene suffering from several types of epileptic seizures in infancy. 38
30010281 2016
30
The evolving spectrum of PRRT2-associated paroxysmal diseases. 38
26598493 2015
31
[Progress in molecular genetics of benign familial infantile epilepsy]. 38
26182513 2015
32
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures. 38
25794116 2015
33
PRRT2 mutations are related to febrile seizures in epileptic patients. 38
25522171 2014
34
[Phenotypes and PRRT2 mutation analysis in families with benign familial infantile epilepsy]. 38
25582463 2014
35
Re-evaluation of PRRT2 mutations in paroxysmal disorders. 38
24609974 2014
36
KCNQ3-Related Disorders 38
24851285 2014
37
Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis. 38
24370076 2013
38
Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis. 38
23073245 2013
39
Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies. 38
23566103 2013
40
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy. 38
23343561 2013
41
PRRT2 mutations cause hemiplegic migraine. 38
23077016 2012
42
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. 38
23077018 2012
43
Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. 38
22845787 2012
44
Familial Paroxysmal Kinesigenic Dyskinesia 38
20301633 2005
45
Benign familial infantile epilepsy. 38
8021777 1994
46
Benign familial infantile epilepsy. 38
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

GO Terms for Benign Familial Infantile Epilepsy

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.91 SNAP25 PRRT2 GABRA6 CHRNA2 ATP1A2
2 neuron projection GO:0043005 9.85 SNAP25 GABRA6 CHRNA2 ATP1A2
3 axon GO:0030424 9.77 STX1B SNAP25 SCN8A SCN2A PRRT2
4 synaptic vesicle GO:0008021 9.71 STX1B SNAP25 PRRT2
5 voltage-gated potassium channel complex GO:0008076 9.67 SNAP25 KCNQ3 KCNQ2
6 presynaptic membrane GO:0042734 9.65 STX1B SNAP25 PRRT2
7 intercalated disc GO:0014704 9.58 SCN2A SCN1B ATP1A2
8 T-tubule GO:0030315 9.5 SCN2A SCN1B ATP1A2
9 sodium channel complex GO:0034706 9.46 SCN2A SCN1B
10 axon initial segment GO:0043194 9.33 SCN8A KCNQ3 KCNQ2
11 voltage-gated sodium channel complex GO:0001518 9.13 SCN8A SCN2A SCN1B
12 node of Ranvier GO:0033268 9.02 SCN8A SCN2A SCN1B KCNQ3 KCNQ2
13 membrane GO:0016020 10.31 STX1B SNAP25 SCN8A SCN2A SCN1B RHBDF2
14 integral component of membrane GO:0016021 10.3 STX1B SCN8A SCN2A SCN1B RHBDF2 PRRT2
15 plasma membrane GO:0005886 10.07 STX1B SNAP25 SCN8A SCN2A SCN1B RHBDF2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.93 SCN8A SCN2A KCNQ3 KCNQ2 CLCN6
2 potassium ion transport GO:0006813 9.75 KCNQ3 KCNQ2 ATP1A2
3 potassium ion transmembrane transport GO:0071805 9.74 SNAP25 KCNQ3 KCNQ2
4 sodium ion transmembrane transport GO:0035725 9.67 SCN8A SCN2A SCN1B
5 sodium ion transport GO:0006814 9.67 SCN8A SCN2A SCN1B ATP1A2
6 regulation of ion transmembrane transport GO:0034765 9.65 SCN8A SCN2A SCN1B KCNQ3 KCNQ2
7 myelination GO:0042552 9.61 SCN8A SCN2A LGI4
8 vesicle fusion GO:0006906 9.59 STX1B SNAP25
9 neuronal action potential GO:0019228 9.58 SCN8A SCN2A
10 membrane depolarization during action potential GO:0086010 9.56 SCN8A SCN2A
11 neuromuscular process controlling posture GO:0050884 9.55 PRRT2 PNKD
12 ion transmembrane transport GO:0034220 9.55 SCN8A SCN2A GABRA6 CLCN6 CHRNA2
13 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.52 SCN1B ATP1A2
14 synaptic vesicle docking GO:0016081 9.51 STX1B SNAP25
15 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 9.5 STX1B SNAP25 PRRT2
16 neurotransmitter uptake GO:0001504 9.48 SNAP25 ATP1A2
17 locomotion GO:0040011 9.46 SCN1B ATP1A2
18 exocytic insertion of neurotransmitter receptor to postsynaptic membrane GO:0098967 9.4 STX1B SNAP25
19 chemical synaptic transmission GO:0007268 9.35 SNAP25 KCNQ3 KCNQ2 GABRA6 CHRNA2
20 ion transport GO:0006811 9.28 SCN8A SCN2A SCN1B KCNQ3 KCNQ2 GABRA6

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 SCN8A SCN2A GABRA6 CHRNA2
2 voltage-gated potassium channel activity GO:0005249 9.5 SNAP25 KCNQ3 KCNQ2
3 delayed rectifier potassium channel activity GO:0005251 9.43 KCNQ3 KCNQ2
4 SNAP receptor activity GO:0005484 9.4 STX1B SNAP25
5 syntaxin-1 binding GO:0017075 9.37 SNAP25 PRRT2
6 sodium channel activity GO:0005272 9.33 SCN8A SCN2A SCN1B
7 voltage-gated sodium channel activity GO:0005248 9.13 SCN8A SCN2A SCN1B
8 voltage-gated ion channel activity GO:0005244 9.02 SCN8A SCN2A SCN1B KCNQ3 KCNQ2

Sources for Benign Familial Infantile Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....