MCID: BNG006
MIFTS: 33

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 50 56 14
Benign Familial Neonatal Convulsions 50 56
Benign Familial Neonatal Seizures 50 56
Bfns 50 56
Familial Benign Neonatal Epilepsy 69
Epilepsy, Benign Neonatal, 2 69
Familial Neonatal Seizures 12
Benign Familial Convulsion 69

Characteristics:

Orphanet epidemiological data:

56
benign familial neonatal epilepsy
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:14777
MeSH 42 D020936
SNOMED-CT 64 230410004 279953009
Orphanet 56 ORPHA1949
MESH via Orphanet 43 C535466 D020936
UMLS via Orphanet 70 C0220669 C2930911
ICD10 via Orphanet 34 G40.3
UMLS 69 C0220669

Summaries for Benign Familial Neonatal Epilepsy

NIH Rare Diseases : 50 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. last updated: 7/20/2015

MalaCards based summary : Benign Familial Neonatal Epilepsy, also known as benign familial neonatal convulsions, is related to kcnq3-related benign familial neonatal epilepsy and kcnq2-related benign familial neonatal epilepsy, and has symptoms including cognitive impairment, seizures and hypertonia. An important gene associated with Benign Familial Neonatal Epilepsy is KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2), and among its related pathways/superpathways are Neuroscience and L1CAM interactions. Related phenotypes are behavior/neurological and nervous system

Related Diseases for Benign Familial Neonatal Epilepsy

Diseases in the Benign Familial Neonatal Epilepsy family:

Kcnq3-Related Benign Familial Neonatal Epilepsy Kcnq2-Related Benign Familial Neonatal Epilepsy

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

(show all 31)
id Related Disease Score Top Affiliating Genes
1 kcnq3-related benign familial neonatal epilepsy 12.0
2 kcnq2-related benign familial neonatal epilepsy 12.0
3 seizures, benign neonatal, type 2 11.1
4 seizures, benign neonatal, 1 11.1
5 benign neonatal seizures 11.0
6 kcnq2-related disorders 10.9
7 epidermolysis bullosa simplex with muscular dystrophy 10.5 KCNQ2 KCNQ3
8 mental retardation, x-linked 29 and others 10.3 KCNQ2 TBC1D24
9 3-methylcrotonyl-coa carboxylase deficiency 10.2 KCNQ3 TBC1D24
10 man1b1-cdg 10.2 SCN2A TBC1D24
11 early onset absence epilepsy 10.2 KCNQ2 TBC1D24
12 childhood malignant schwannoma 10.2 SCN2A TBC1D24
13 glans penis cancer 10.2 KCNQ2 PRRT2
14 epileptic encephalopathy, early infantile, 15 10.1 KCNQ2 SCN2A
15 adult choroid plexus cancer 10.1 KCNQ3 TBC1D24
16 histrionic personality disorder 10.1 KCNQ2 KCNQ3 PRRT2
17 suppurative cholangitis 10.1 KCNQ2 KCNQ3 SCN2A
18 epilepsy 10.1
19 spinocerebellar degeneration 10.0 KCNQ2 PRRT2 SCN2A
20 bone cancer 10.0 KCNQ2 KCNQ3 SCN2A
21 babesiosis 10.0 PRRT2 SCN2A
22 epilepsy, generalized, with febrile seizures plus, type 5 9.9 KCNQ3 SCN2A TBC1D24
23 autosomal dominant nonsyndromic deafness 9.8 KCNQ2 TBC1D24
24 juvenile absence epilepsy 9.7 KCNQ2 KCNQ3 PRRT2 SCN2A
25 childhood electroclinical syndrome 9.7 KCNQ2 KCNQ3 SCN2A TBC1D24
26 deafness, autosomal recessive 65 9.7 CRH KCNQ2 KCNQ3
27 erythermalgia, primary 9.7 KCNQ2 KCNQ3 SCN2A TBC1D24
28 gaba aminotransferase deficiency 9.6 KCNQ2 KCNQ3 SCN2A TBC1D24
29 adolescence-adult electroclinical syndrome 9.6 KCNQ2 PRRT2 SCN2A TBC1D24
30 peyronie's disease 9.2 CRH KCNQ2 SCN2A TBC1D24
31 gingival disease 6.8 CRH KCNQ2 KCNQ3 LOX MLST8 PRRT2

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:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cognitive impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0100543
2 seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 hypertonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001276

UMLS symptoms related to Benign Familial Neonatal Epilepsy:


cyanosis, seizures, focal

MGI Mouse Phenotypes related to Benign Familial Neonatal Epilepsy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.5 CRH KCNQ2 KCNQ3 LOX PRRT2 SCN2A
2 nervous system MP:0003631 9.17 CRH KCNQ2 KCNQ3 MLST8 PRRT2 SCN2A

Drugs & Therapeutics for Benign Familial Neonatal Epilepsy

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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:

id 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
id 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 KCNQ2 NM_172107.3(KCNQ2): c.346_348delAAG (p.Lys116del) deletion Pathogenic rs118192192 GRCh37 Chromosome 20, 62078139: 62078141

Copy number variations for Benign Familial Neonatal Epilepsy from CNVD:

7
id 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:

id Super pathways Score Top Affiliating Genes
1 11.84 KCNQ2 SCN2A STX1A
2
Show member pathways
11.23 KCNQ2 KCNQ3 SCN2A
3 11.02 KCNQ2 KCNQ3
4 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:

id Name GO ID Score Top Affiliating Genes
1 axon initial segment GO:0043194 9.16 KCNQ2 KCNQ3
2 voltage-gated potassium channel complex GO:0008076 9.13 KCNQ2 KCNQ3 STX1A
3 node of Ranvier GO:0033268 8.8 KCNQ2 KCNQ3 SCN2A

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

id Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.13 CRH KCNQ2 KCNQ3
2 regulation of ion transmembrane transport GO:0034765 8.8 KCNQ2 KCNQ3 SCN2A

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

id Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.16 KCNQ2 KCNQ3
2 voltage-gated potassium channel activity GO:0005249 8.96 KCNQ2 KCNQ3
3 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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