MCID: BNG006
MIFTS: 36

Benign Familial Neonatal Epilepsy

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Benign Familial Neonatal Epilepsy

MalaCards integrated aliases for Benign Familial Neonatal Epilepsy:

Name: Benign Familial Neonatal Epilepsy 12 53 59 15
Benign Familial Neonatal Convulsions 53 59
Benign Familial Neonatal Seizures 53 59
Bfns 53 59
Epilepsy Benign Neonatal Familial 76
Familial Benign Neonatal Epilepsy 73
Epilepsy, Benign Neonatal, 2 73
Familial Neonatal Seizures 12
Benign Familial Convulsion 73

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:14777
MeSH 44 D020936
SNOMED-CT 68 230410004 279953009
Orphanet 59 ORPHA1949
MESH via Orphanet 45 C535466 D020936
UMLS via Orphanet 74 C0220669 C2930911
ICD10 via Orphanet 34 G40.3

Summaries for Benign Familial Neonatal Epilepsy

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1949Disease definitionBenign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.EpidemiologyPrevalence is currently unknown since this disorder is possibly overlooked. About 100 families have been reported to date.Clinical descriptionSeizure onset is usually between the second and the eighth day of life, in otherwise healthy newborns. Seizures are mostly focal involving alternatively both sides of the body and apnea is frequently associated. Seizures can be isolated or in clusters, are generally brief and last 1-2 minutes. However, they can be very frequent, occurring up to 20 times a day, and may evolve into status epilepticus. Seizures can occur during wakefulness and/or sleep, and are of a mixed type, starting with tonic posture and apnea, and often progressing to clonic movements and motor automatisms. During the interictal period, neonates are neurologically normal, although some degree of sedation can be seen in response to anti-epileptic medications. Although most patients do receive antiepileptic treatment in the neonatal period, seizures have been shown to remit spontaneously after the first months of life, and are usually not seen after the first year of life. However, about 10 to 15% of patients have febrile or afebrile seizures later in childhood. Subsequent psychomotor development is normal.EtiologyBFNE is a genetically heterogeneous disorder due to mutations in the KCNQ2 (20q13.33) and KCNQ3 (8q24) genes that both code for voltage-gated potassium channel subunits. Mutations in KCNQ2 are also responsible for KCNQ2-related epileptic encephalopathy, a severe form of neonatal epilepsy.Diagnostic methodsElectroclinical events are suggestive of the disorder. Asymmetric tonic posturing associated with apnea and followed by focal or bilateral clonic jerking is the typical seizure type. In BFNE, neonates are neurologically normal and neurocognitive development is normal. Ictal electroencephalogram (EEG) may show focal interictal abnormalities, mainly over the central regions, but otherwise the EEG background is normal. The diagnosis is confirmed by genetic testing.Differential diagnosisDifferential diagnosis includes benign familial neonatal-infantile seizures and benign familial infantile epilepsy (see these terms).Antenatal diagnosisPrenatal diagnosis is possible if the disease-causing mutation has already been identified in the family.Genetic counselingTransmission is autosomal dominant with incomplete penetrance. Genetic counseling should be offered to affected families informing them of the 50% chance the offspring has of inheriting the disease-causing mutation and therefore being affected with the disorder. Rare cases are due to de novo mutations.Management and treatmentThe use of anticonvulsant therapy (e.g. phenobarbital, phenytoin, valproate, carbamazepine) is needed in most case to stop seizures in the neonatal period, particularly in cases with very frequent seizures or status epilepticus. Usually, patients require treatment for the first 6-12 months of life. However, it is important for clinicians and family to be aware that some patients require treatment beyond 12 months of age.PrognosisPrognosis is good. Seizures normally disappear during the first year of life and patients do not display any neurological sequelae. Later seizures have been reported, including occasional febrile seizures and idiopathic epilepsy syndromes in childhood, in particular rolandic epilepsy (see this term).Visit the Orphanet disease page for more resources.

MalaCards based summary : Benign Familial Neonatal Epilepsy, also known as benign familial neonatal convulsions, is related to benign neonatal seizures and seizures, benign familial infantile, 3, and has symptoms including cyanosis An important gene associated with Benign Familial Neonatal Epilepsy is KCNQ3 (Potassium Voltage-Gated Channel Subfamily Q Member 3), and among its related pathways/superpathways are Transmission across Chemical Synapses and Neuroscience. Related phenotypes are seizures and hypertonia

Wikipedia : 76 Benign familial neonatal seizures (BFNS), formerly called benign familial neonatal convulsions (BFNC),... more...

Related Diseases for Benign Familial Neonatal Epilepsy

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 benign neonatal seizures 32.0 KCNQ2 KCNQ3 SCN2A
2 seizures, benign familial infantile, 3 32.0 KCNQ2 KCNQ3 SCN2A
3 epilepsy 30.0 KCNQ2 KCNQ3 TBC1D24
4 convulsions benign familial neonatal dominant form 11.6
5 seizures, benign familial neonatal, 1 11.2
6 seizures, benign familial neonatal, 2 11.2
7 kcnq2-related disorders 11.0
8 epileptic encephalopathy, early infantile, 1 10.4 KCNQ2 TBC1D24
9 epilepsy with generalized tonic-clonic seizures 10.3 SCN2A TBC1D24
10 childhood electroclinical syndrome 10.3 KCNQ2 TBC1D24
11 malignant migrating partial seizures of infancy 10.3 SCN2A TBC1D24
12 unverricht-lundborg syndrome 10.3 KCNQ3 TBC1D24
13 lennox-gastaut syndrome 10.1 KCNQ2 TBC1D24
14 seizure disorder 10.1 KCNQ2 SCN2A
15 episodic ataxia 9.8 PRRT2 SCN2A
16 neonatal period electroclinical syndrome 9.8 KCNQ2 KCNQ3 SCN2A TBC1D24
17 epileptic encephalopathy, early infantile, 6 9.8 KCNQ2 KCNQ3 SCN2A TBC1D24
18 generalized epilepsy with febrile seizures plus 9.8 KCNQ2 KCNQ3 SCN2A TBC1D24
19 infancy electroclinical syndrome 9.8 KCNQ2 PRRT2 SCN2A TBC1D24
20 optic nerve glioma 9.7 GFAP LOX
21 epilepsy, idiopathic generalized 9.7 KCNQ2 KCNQ3 SCN2A TBC1D24
22 epileptic encephalopathy, early infantile, 15 9.7 KCNQ2 KCNQ3 SCN2A STX1A
23 epilepsy, idiopathic generalized 10 9.6 GABRA6 KCNQ3 SCN2A TBC1D24
24 epilepsy, nocturnal frontal lobe, 1 9.6 CRH KCNQ2 KCNQ3
25 gangliocytoma 9.5 CRH GFAP
26 binswanger's disease 9.5 CRH GFAP
27 benign familial infantile epilepsy 9.5 GABRA6 KCNQ2 KCNQ3 PRRT2 SCN2A
28 benign epilepsy with centrotemporal spikes 9.4 KCNQ2 KCNQ3 PRRT2 SCN2A TBC1D24
29 west syndrome 9.1 CRH KCNQ2 SCN2A TBC1D24

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



Diseases related to Benign Familial Neonatal Epilepsy

Symptoms & Phenotypes for Benign Familial Neonatal Epilepsy

Human phenotypes related to Benign Familial Neonatal Epilepsy:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 hypertonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001276
3 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543

UMLS symptoms related to Benign Familial Neonatal Epilepsy:


cyanosis

MGI Mouse Phenotypes related to Benign Familial Neonatal Epilepsy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.61 CRH GABRA6 GFAP KCNQ2 KCNQ3 LOX
2 nervous system MP:0003631 9.28 CRH GABRA6 GFAP KCNQ2 KCNQ3 MLST8

Drugs & Therapeutics for Benign Familial Neonatal Epilepsy

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

Genetic Tests for Benign Familial Neonatal Epilepsy

Anatomical Context for Benign Familial Neonatal Epilepsy

Publications for Benign Familial Neonatal Epilepsy

Articles related to Benign Familial Neonatal Epilepsy:

# Title Authors Year
1
Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures. ( 27781029 )
2016
2
Potassium channel genes and benign familial neonatal epilepsy. ( 25194482 )
2014
3
Exacerbation of benign familial neonatal epilepsy induced by massive doses of phenobarbital and midazolam. ( 25079576 )
2014
4
In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission. ( 23065794 )
2012
5
Benign familial neonatal epilepsy with mutations in two potassium channel genes. ( 10226745 )
1999

Variations for Benign Familial Neonatal Epilepsy

ClinVar genetic disease variations for Benign Familial Neonatal Epilepsy:

6
(show top 50) (show all 442)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ3 NM_004519.3(KCNQ3): c.988C> T (p.Arg330Cys) single nucleotide variant Pathogenic/Likely pathogenic rs118192251 GRCh37 Chromosome 8, 133186542: 133186542
2 KCNQ3 NM_004519.3(KCNQ3): c.988C> T (p.Arg330Cys) single nucleotide variant Pathogenic/Likely pathogenic rs118192251 GRCh38 Chromosome 8, 132174295: 132174295
3 KCNQ3 NM_004519.3(KCNQ3): c.1564G> A (p.Val522Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143683496 GRCh37 Chromosome 8, 133152327: 133152327
4 KCNQ3 NM_004519.3(KCNQ3): c.1564G> A (p.Val522Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143683496 GRCh38 Chromosome 8, 132140080: 132140080
5 KCNQ3 NM_004519.3(KCNQ3): c.1994C> T (p.Ser665Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147173555 GRCh37 Chromosome 8, 133142134: 133142134
6 KCNQ3 NM_004519.3(KCNQ3): c.1994C> T (p.Ser665Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147173555 GRCh38 Chromosome 8, 132129887: 132129887
7 KCNQ3 NM_004519.3(KCNQ3): c.2391C> T (p.His797=) single nucleotide variant Conflicting interpretations of pathogenicity rs763446963 GRCh37 Chromosome 8, 133141737: 133141737
8 KCNQ3 NM_004519.3(KCNQ3): c.2391C> T (p.His797=) single nucleotide variant Conflicting interpretations of pathogenicity rs763446963 GRCh38 Chromosome 8, 132129490: 132129490
9 KCNQ3 NM_001204824.1(KCNQ3): c.2083G> T (p.Asp695Tyr) single nucleotide variant Uncertain significance rs530506549 GRCh37 Chromosome 8, 133141685: 133141685
10 KCNQ3 NM_001204824.1(KCNQ3): c.2083G> T (p.Asp695Tyr) single nucleotide variant Uncertain significance rs530506549 GRCh38 Chromosome 8, 132129438: 132129438
11 KCNQ3 NM_004519.3(KCNQ3): c.2383G> A (p.Val795Ile) single nucleotide variant Uncertain significance rs764544537 GRCh37 Chromosome 8, 133141745: 133141745
12 KCNQ3 NM_004519.3(KCNQ3): c.2383G> A (p.Val795Ile) single nucleotide variant Uncertain significance rs764544537 GRCh38 Chromosome 8, 132129498: 132129498
13 KCNQ3 NM_001204824.1(KCNQ3): c.1970G> A (p.Arg657Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201328910 GRCh37 Chromosome 8, 133141798: 133141798
14 KCNQ3 NM_001204824.1(KCNQ3): c.1970G> A (p.Arg657Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201328910 GRCh38 Chromosome 8, 132129551: 132129551
15 KCNQ3 NM_004519.3(KCNQ3): c.2263G> A (p.Asp755Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs150821246 GRCh37 Chromosome 8, 133141865: 133141865
16 KCNQ3 NM_004519.3(KCNQ3): c.2263G> A (p.Asp755Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs150821246 GRCh38 Chromosome 8, 132129618: 132129618
17 KCNQ3 NM_001204824.1(KCNQ3): c.1768T> C (p.Tyr590His) single nucleotide variant Uncertain significance rs181746838 GRCh37 Chromosome 8, 133142000: 133142000
18 KCNQ3 NM_001204824.1(KCNQ3): c.1768T> C (p.Tyr590His) single nucleotide variant Uncertain significance rs181746838 GRCh38 Chromosome 8, 132129753: 132129753
19 KCNQ3 NM_004519.3(KCNQ3): c.2071G> A (p.Gly691Ser) single nucleotide variant Likely benign rs747379988 GRCh37 Chromosome 8, 133142057: 133142057
20 KCNQ3 NM_004519.3(KCNQ3): c.2071G> A (p.Gly691Ser) single nucleotide variant Likely benign rs747379988 GRCh38 Chromosome 8, 132129810: 132129810
21 KCNQ3 NM_004519.3(KCNQ3): c.2005G> A (p.Ala669Thr) single nucleotide variant Uncertain significance rs201812160 GRCh37 Chromosome 8, 133142123: 133142123
22 KCNQ3 NM_004519.3(KCNQ3): c.2005G> A (p.Ala669Thr) single nucleotide variant Uncertain significance rs201812160 GRCh38 Chromosome 8, 132129876: 132129876
23 KCNQ3 NM_004519.3(KCNQ3): c.1958A> G (p.Gln653Arg) single nucleotide variant Benign/Likely benign rs554833870 GRCh37 Chromosome 8, 133142170: 133142170
24 KCNQ3 NM_004519.3(KCNQ3): c.1958A> G (p.Gln653Arg) single nucleotide variant Benign/Likely benign rs554833870 GRCh38 Chromosome 8, 132129923: 132129923
25 KCNQ3 NM_004519.3(KCNQ3): c.1885G> C (p.Val629Leu) single nucleotide variant Uncertain significance rs185511111 GRCh37 Chromosome 8, 133142243: 133142243
26 KCNQ3 NM_004519.3(KCNQ3): c.1885G> C (p.Val629Leu) single nucleotide variant Uncertain significance rs185511111 GRCh38 Chromosome 8, 132129996: 132129996
27 KCNQ3 NM_001204824.1(KCNQ3): c.1147G> A (p.Gly383Arg) single nucleotide variant Uncertain significance rs773584143 GRCh38 Chromosome 8, 132140137: 132140137
28 KCNQ3 NM_001204824.1(KCNQ3): c.1147G> A (p.Gly383Arg) single nucleotide variant Uncertain significance rs773584143 GRCh37 Chromosome 8, 133152384: 133152384
29 KCNQ3 NM_004519.3(KCNQ3): c.1391T> C (p.Val464Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143664009 GRCh38 Chromosome 8, 132141203: 132141203
30 KCNQ3 NM_004519.3(KCNQ3): c.1391T> C (p.Val464Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143664009 GRCh37 Chromosome 8, 133153450: 133153450
31 KCNQ3 NM_001204824.1(KCNQ3): c.866C> G (p.Pro289Arg) single nucleotide variant Uncertain significance rs149272208 GRCh37 Chromosome 8, 133182590: 133182590
32 KCNQ3 NM_001204824.1(KCNQ3): c.866C> G (p.Pro289Arg) single nucleotide variant Uncertain significance rs149272208 GRCh38 Chromosome 8, 132170343: 132170343
33 KCNQ3 NM_004519.3(KCNQ3): c.1216G> A (p.Val406Ile) single nucleotide variant Uncertain significance rs144474368 GRCh38 Chromosome 8, 132170353: 132170353
34 KCNQ3 NM_004519.3(KCNQ3): c.1216G> A (p.Val406Ile) single nucleotide variant Uncertain significance rs144474368 GRCh37 Chromosome 8, 133182600: 133182600
35 KCNQ3 NM_001204824.1(KCNQ3): c.717G> A (p.Val239=) single nucleotide variant Conflicting interpretations of pathogenicity rs750375617 GRCh37 Chromosome 8, 133184908: 133184908
36 KCNQ3 NM_001204824.1(KCNQ3): c.717G> A (p.Val239=) single nucleotide variant Conflicting interpretations of pathogenicity rs750375617 GRCh38 Chromosome 8, 132172661: 132172661
37 KCNQ3 NM_001204824.1(KCNQ3): c.496G> A (p.Val166Ile) single nucleotide variant Uncertain significance rs549372035 GRCh38 Chromosome 8, 132175530: 132175530
38 KCNQ3 NM_001204824.1(KCNQ3): c.496G> A (p.Val166Ile) single nucleotide variant Uncertain significance rs549372035 GRCh37 Chromosome 8, 133187777: 133187777
39 KCNQ3 NM_004519.3(KCNQ3): c.225C> G (p.Asp75Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs138254004 GRCh38 Chromosome 8, 132480308: 132480308
40 KCNQ3 NM_004519.3(KCNQ3): c.225C> G (p.Asp75Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs138254004 GRCh37 Chromosome 8, 133492555: 133492555
41 KCNQ3 NM_004519.3(KCNQ3): c.2492G> A (p.Arg831Gln) single nucleotide variant Uncertain significance rs149004528 GRCh37 Chromosome 8, 133141636: 133141636
42 KCNQ3 NM_004519.3(KCNQ3): c.2492G> A (p.Arg831Gln) single nucleotide variant Uncertain significance rs149004528 GRCh38 Chromosome 8, 132129389: 132129389
43 KCNQ3 NM_004519.3(KCNQ3): c.2079G> A (p.Pro693=) single nucleotide variant Conflicting interpretations of pathogenicity rs145204452 GRCh37 Chromosome 8, 133142049: 133142049
44 KCNQ3 NM_004519.3(KCNQ3): c.2079G> A (p.Pro693=) single nucleotide variant Conflicting interpretations of pathogenicity rs145204452 GRCh38 Chromosome 8, 132129802: 132129802
45 KCNQ3 NM_004519.3(KCNQ3): c.*7689A> G single nucleotide variant Likely benign rs142621198 GRCh37 Chromosome 8, 133133820: 133133820
46 KCNQ3 NM_004519.3(KCNQ3): c.*7689A> G single nucleotide variant Likely benign rs142621198 GRCh38 Chromosome 8, 132121573: 132121573
47 KCNQ3 NM_004519.3(KCNQ3): c.*7512T> G single nucleotide variant Uncertain significance rs886062660 GRCh37 Chromosome 8, 133133997: 133133997
48 KCNQ3 NM_004519.3(KCNQ3): c.*7512T> G single nucleotide variant Uncertain significance rs886062660 GRCh38 Chromosome 8, 132121750: 132121750
49 KCNQ3 NM_004519.3(KCNQ3): c.*7506C> T single nucleotide variant Benign rs11785257 GRCh37 Chromosome 8, 133134003: 133134003
50 KCNQ3 NM_004519.3(KCNQ3): c.*7506C> T single nucleotide variant Benign rs11785257 GRCh38 Chromosome 8, 132121756: 132121756

Copy number variations for Benign Familial Neonatal Epilepsy from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 155270 20 54400000 62435964 Copy number KCNQ2 benign familial neonatal convulsions
2 232536 8 117700000 146274826 Copy number KCNQ3 benign familial neonatal convulsions

Expression for Benign Familial Neonatal Epilepsy

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

Pathways for Benign Familial Neonatal Epilepsy

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 GABRA6 KCNQ2 KCNQ3 STX1A
2 11.79 GFAP KCNQ2 SCN2A STX1A
3
Show member pathways
11.43 KCNQ2 KCNQ3 SCN2A
4 11.09 KCNQ2 KCNQ3
5 10.28 KCNQ2 KCNQ3 SCN2A

GO Terms for Benign Familial Neonatal Epilepsy

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

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.65 GABRA6 KCNQ2 KCNQ3 SCN2A STX1A
2 cell junction GO:0030054 9.62 GABRA6 PRRT2 STX1A TBC1D24
3 axon initial segment GO:0043194 9.16 KCNQ2 KCNQ3
4 voltage-gated potassium channel complex GO:0008076 9.13 KCNQ2 KCNQ3 STX1A
5 node of Ranvier GO:0033268 8.8 KCNQ2 KCNQ3 SCN2A

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.56 GABRA6 KCNQ2 KCNQ3 SCN2A
2 ion transmembrane transport GO:0034220 9.54 GABRA6 KCNQ2 SCN2A
3 regulation of ion transmembrane transport GO:0034765 9.33 KCNQ2 KCNQ3 SCN2A
4 long-term synaptic potentiation GO:0060291 9.32 CRH GFAP
5 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 8.96 PRRT2 STX1A
6 chemical synaptic transmission GO:0007268 8.92 CRH GABRA6 KCNQ2 KCNQ3

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

# Name GO ID Score Top Affiliating Genes
1 delayed rectifier potassium channel activity GO:0005251 8.96 KCNQ2 KCNQ3
2 voltage-gated ion channel activity GO:0005244 8.8 KCNQ2 KCNQ3 SCN2A

Sources for Benign Familial Neonatal 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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