BFNS
MCID: BNG006
MIFTS: 54

Benign Familial Neonatal Epilepsy (BFNS)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Benign Familial Neonatal Epilepsy

MalaCards integrated aliases for Benign Familial Neonatal Epilepsy:

Name: Benign Familial Neonatal Epilepsy 12 20 58 15
Benign Familial Neonatal Convulsions 20 58 6
Benign Familial Neonatal Seizures 20 58
Bfns 20 58
Familial Benign Neonatal Convulsions 54
Epilepsy Benign Neonatal Familial 73
Familial Benign Neonatal Epilepsy 70
Epilepsy, Benign Neonatal, 2 70
Familial Neonatal Seizures 12
Benign Familial Convulsion 70

Characteristics:

Orphanet epidemiological data:

58
benign familial neonatal epilepsy
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:14777
MeSH 44 D020936
SNOMED-CT 67 279953009
MESH via Orphanet 45 C535466 D020936
ICD10 via Orphanet 33 G40.3
UMLS via Orphanet 71 C0220669 C2930911
Orphanet 58 ORPHA1949
UMLS 70 C0220669 C1852581 C3889476

Summaries for Benign Familial Neonatal Epilepsy

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1949 Definition Benign 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. Epidemiology Prevalence is currently unknown since this disorder is possibly overlooked. About 100 families have been reported to date. Clinical description Seizure 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. Etiology BFNE 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 methods Electroclinical 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 diagnosis Differential diagnosis includes benign familial neonatal-infantile seizures and benign familial infantile epilepsy. Antenatal diagnosis Prenatal diagnosis is possible if the disease-causing mutation has already been identified in the family. Genetic counseling Transmission 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 treatment The use of anticonvulsant therapy (e.g. phenobarbital, phenytoin, valproate, carbamazepine) is needed in most cases 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. Prognosis Prognosis 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.

MalaCards based summary : Benign Familial Neonatal Epilepsy, also known as benign familial neonatal convulsions, is related to seizures, benign familial neonatal, 2 and kcnq2-related disorders, and has symptoms including cyanosis 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 Transmission across Chemical Synapses and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Fentanyl and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include cortex, and related phenotypes are focal eeg discharges with secondary generalization and focal tonic seizure

Wikipedia : 73 Benign familial neonatal seizures (BFNS), formerly called benign familial neonatal convulsions (BFNC),... more...

Related Diseases for Benign Familial Neonatal Epilepsy

Diseases in the Neonatal Epilepsy Syndrome family:

Benign Familial Neonatal Epilepsy

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

(show top 50) (show all 116)
# Related Disease Score Top Affiliating Genes
1 seizures, benign familial neonatal, 2 33.0 KCNQ3 KCNQ2
2 kcnq2-related disorders 32.3 KCNQ3 KCNQ2
3 seizures, benign familial infantile, 3 32.2 SCN2A KCNQ2
4 convulsions benign familial neonatal dominant form 30.7 KCNQ3 KCNQ2
5 reflex epilepsy 30.2 SCN2A SCN1A GABRG2 CHRNA4
6 febrile seizures 29.8 SCN8A SCN2A SCN1B SCN1A PRRT2 KCNQ2
7 developmental and epileptic encephalopathy 7 29.7 KCNQ3 KCNQ2 KCNB2
8 developmental and epileptic encephalopathy 1 29.7 STXBP1 SCN1A KCNQ2 KCNA2 CDKL5
9 epilepsy, nocturnal frontal lobe, 1 29.7 SCN1B SCN1A KCNQ3 KCNQ2 KCNA1 GABRG2
10 developmental and epileptic encephalopathy 29.6 STXBP1 SCN8A SCN1A KCNQ2 CDKL5
11 benign neonatal seizures 29.5 STXBP1 SCN8A SCN2A SCN1B SCN1A PCDH19
12 rett syndrome 29.5 STXBP1 SCN8A SCN1A CDKL5
13 ohtahara syndrome 29.3 STXBP1 SCN8A SCN2A SCN1A KCNQ2 CDKL5
14 encephalopathy 29.0 STXBP1 SCN8A SCN2A SCN1A PCDH19 KCNQ2
15 focal epilepsy 29.0 SCN8A SCN2A SCN1A KCNA1 GABRG2 CHRNA4
16 alacrima, achalasia, and mental retardation syndrome 28.6 STXBP1 SCN2A SCN1A KCNQ3 KCNQ2 KCNA2
17 epilepsy 27.9 STXBP1 SCN8A SCN2A SCN1B SCN1A PRRT2
18 autosomal dominant nocturnal frontal lobe epilepsy 27.6 STXBP1 SCN8A SCN2A SCN1B SCN1A PCDH19
19 west syndrome 27.5 STXBP1 SCN8A SCN2A SCN1B SCN1A PRRT2
20 seizure disorder 27.5 STXBP1 SCN8A SCN2A SCN1B SCN1A PRRT2
21 benign epilepsy with centrotemporal spikes 27.3 STXBP1 SCN8A SCN2A SCN1B SCN1A PRRT2
22 benign familial infantile epilepsy 27.2 STXBP1 SCN8A SCN2A SCN1B SCN1A PRRT2
23 early infantile epileptic encephalopathy 26.9 STXBP1 SCN8A SCN2A SCN1B SCN1A PRRT2
24 epilepsy, idiopathic generalized 26.8 STXBP1 SCN8A SCN2A SCN1B SCN1A PRRT2
25 seizures, benign familial infantile, 1 11.2
26 genetic epilepsy with febrile seizures plus 10.3 SCN2A SCN1A
27 verbal auditory agnosia 10.3 SCN1B GABRG2
28 hereditary episodic ataxia 10.3 SCN2A KCNA1
29 febrile infection-related epilepsy syndrome 10.3 SCN1A PCDH19
30 generalized epilepsy with febrile seizures plus, type 1 10.3 SCN1B SCN1A
31 febrile seizures, familial, 11 10.3 SCN1A GABRG2
32 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.3 KCNQ3 KCNQ2 CHRNA4
33 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 10.2 SCN2A PRRT2
34 paroxysmal choreoathetosis 10.2 PRRT2 PCDH19
35 febrile seizures, familial, 6 10.2 SCN1B SCN1A GABRG2
36 electroencephalogram, low-voltage 10.2
37 epilepsy, familial temporal lobe, 5 10.2 SCN1B SCN1A GABRG2
38 febrile seizures, familial, 8 10.2 SCN1B SCN1A GABRG2
39 febrile seizures, familial, 4 10.2 SCN1B SCN1A GABRG2
40 generalized epilepsy with febrile seizures plus, type 2 10.2 SCN1B SCN1A GABRG2
41 chromosome 16p11.2 deletion syndrome 10.2 PRRT2 PCDH19
42 migraine, familial hemiplegic, 1 10.2 SCN1A PRRT2 KCNA1
43 alzheimer disease 9 10.2 SCN1A KCNA1
44 familial hemiplegic migraine 10.2 SCN1A PRRT2 KCNA1
45 eastern equine encephalitis 10.1 KCNQ3 KCNQ2
46 status epilepticus 10.1 SCN1A PCDH19 KCNQ2
47 stxbp1 encephalopathy 10.1 STXBP1 CDKL5
48 migraine, familial hemiplegic, 2 10.1 SCN1A PRRT2
49 migraine with aura 10.1 SCN1A PRRT2 KCNA1
50 seizures, benign familial infantile, 5 10.1 SCN8A KCNQ3

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:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 focal eeg discharges with secondary generalization 58 31 hallmark (90%) Very frequent (99-80%) HP:0011188
2 focal tonic seizure 31 hallmark (90%) HP:0011167
3 clonus 58 31 frequent (33%) Frequent (79-30%) HP:0002169
4 apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002104
5 limb myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0045084
6 focal clonic seizure 58 31 frequent (33%) Frequent (79-30%) HP:0002266
7 focal autonomic seizure 58 31 frequent (33%) Frequent (79-30%) HP:0011154
8 circumoral cyanosis 58 31 frequent (33%) Frequent (79-30%) HP:0032556
9 generalized tonic seizure 31 frequent (33%) HP:0010818
10 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
11 muscular hypotonia of the trunk 58 31 occasional (7.5%) Occasional (29-5%) HP:0008936
12 facial tics 58 31 occasional (7.5%) Occasional (29-5%) HP:0011468
13 simple febrile seizure 31 occasional (7.5%) HP:0011171
14 status epilepticus 58 31 very rare (1%) Very rare (<4-1%) HP:0002133
15 increased theta frequency activity in eeg 58 31 very rare (1%) Very rare (<4-1%) HP:0031535
16 focal-onset seizure 58 Very frequent (99-80%)
17 generalized tonic seizures 58 Frequent (79-30%)
18 focal tonic seizures 58 Very frequent (99-80%)
19 simple febrile seizures 58 Occasional (29-5%)

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 10.19 CDKL5 CHRNA4 GABRA1 GABRG2 KCNA1 KCNA2
2 growth/size/body region MP:0005378 9.93 GABRA1 GABRG2 KCNA1 KCNA2 KCNQ2 KCNQ3
3 mortality/aging MP:0010768 9.77 CHRNA4 GABRA1 GABRG2 KCNA1 KCNA2 KCNQ2
4 nervous system MP:0003631 9.55 CDKL5 CHRNA4 GABRA1 GABRG2 KCNA1 KCNA2

Drugs & Therapeutics for Benign Familial Neonatal Epilepsy

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
2
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
3
Naloxone Approved, Vet_approved 465-65-6 5284596
4 Narcotics
5 Anesthetics, General
6 Analgesics
7 Analgesics, Opioid
8 Anesthetics
9 Anesthetics, Intravenous
10 Anesthetics, Local
11 Narcotic Antagonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Influence Of Low Dose Intrathecal Naloxone On Bupivacaine - Fentanyl Spinal Anaesthesia For Lower Limb Orthopedic Surgery In Elderly Patients Completed NCT04673812 Bupivacaine-fentanyl

Search NIH Clinical Center for Benign Familial Neonatal Epilepsy

Genetic Tests for Benign Familial Neonatal Epilepsy

Anatomical Context for Benign Familial Neonatal Epilepsy

MalaCards organs/tissues related to Benign Familial Neonatal Epilepsy:

40
Cortex

Publications for Benign Familial Neonatal Epilepsy

Articles related to Benign Familial Neonatal Epilepsy:

(show top 50) (show all 234)
# Title Authors PMID Year
1
The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions. 61 6 54
20119593 2010
2
Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions. 54 6 61
19559753 2009
3
Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes. 6 54 61
19464834 2009
4
A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions. 6 54 61
18249525 2008
5
A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC). 54 6 61
18246739 2007
6
Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions. 61 54 6
17475800 2007
7
Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy. 61 54 6
16916607 2006
8
A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family. 6 54 61
15178210 2004
9
[A novel mutation of KCNQ2 gene in a Chinese family with benign familial neonatal convulsions]. 6 54 61
14669214 2003
10
KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. 6 54 61
14534157 2003
11
Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels. 6 61 54
11784811 2002
12
A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions. 61 6 54
10852552 2000
13
Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. 6 54 61
9872318 1998
14
Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 61 6
25959266 2015
15
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 6 61
25982755 2015
16
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A. 6 61
24375629 2014
17
Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case. 61 6
23146207 2013
18
Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation. 61 6
22169383 2012
19
A novel degradation signal derived from distal C-terminal frameshift mutations of KCNQ2 protein which cause neonatal epilepsy. 61 6
21937445 2011
20
Calmodulin regulates the trafficking of KCNQ2 potassium channels. 61 6
17993630 2008
21
Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy. 6 61
18006581 2008
22
Benign familial neonatal convulsions: always benign? 61 6
17129708 2007
23
Andreas Rett and benign familial neonatal convulsions revisited. 61 6
16966552 2006
24
A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years. 61 6
16686649 2006
25
Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions. 6 61
16260777 2006
26
Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC). 6 61
16235065 2005
27
De novo KCNQ2 mutations in patients with benign neonatal seizures. 61 6
15596769 2004
28
A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. 6 54
15249611 2004
29
A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes. 61 6
12847176 2003
30
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. 6 61
12742592 2003
31
Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. 61 6
11572947 2001
32
Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor. 6 61
11175290 2000
33
A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family. 6 61
10774989 2000
34
A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions. 6 61
10482260 1999
35
Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions. 61 6
10323247 1999
36
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. 6 61
9425900 1998
37
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. 6 61
9425895 1998
38
A potassium channel mutation in neonatal human epilepsy. 6 61
9430594 1998
39
Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20. 61 6
7980108 1994
40
Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity. 6 61
1859177 1991
41
Epilepsy-associated mutations in the voltage sensor of KCNQ3 affect voltage dependence of channel opening. 6
30578330 2019
42
Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP2-Dependent K+ Channel Gating. 6
29383681 2018
43
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. 6
29852413 2018
44
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. 6
29655203 2018
45
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 6
28628100 2017
46
Prevalence and architecture of de novo mutations in developmental disorders. 6
28135719 2017
47
Novel genetic causes for cerebral visual impairment. 6
26350515 2016
48
Functional analysis of potassium channels in Kv7.2 G271V mutant causing early onset familial epilepsy. 6
25960349 2015
49
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. 6
25046240 2015
50
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015

Variations for Benign Familial Neonatal Epilepsy

ClinVar genetic disease variations for Benign Familial Neonatal Epilepsy:

6 (show top 50) (show all 776)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNQ2 NM_172107.4(KCNQ2):c.851A>G (p.Tyr284Cys) SNV Pathogenic 7381 rs28939683 GRCh37: 20:62071027-62071027
GRCh38: 20:63439674-63439674
2 KCNQ2 KCNQ2, 1-BP DEL, 1846T Deletion Pathogenic 7384 GRCh37:
GRCh38:
3 KCNQ3 NM_004519.4(KCNQ3):c.929G>T (p.Gly310Val) SNV Pathogenic 7392 rs118192250 GRCh37: 8:133187704-133187704
GRCh38: 8:132175457-132175457
4 KCNQ3 NM_004519.4(KCNQ3):c.925T>C (p.Trp309Arg) SNV Pathogenic 21415 rs118192249 GRCh37: 8:133187708-133187708
GRCh38: 8:132175461-132175461
5 KCNQ3 NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) SNV Pathogenic 21417 rs118192251 GRCh37: 8:133186542-133186542
GRCh38: 8:132174295-132174295
6 KCNQ2 NM_172107.4(KCNQ2):c.881C>G (p.Ala294Gly) SNV Pathogenic 21805 rs118192211 GRCh37: 20:62070997-62070997
GRCh38: 20:63439644-63439644
7 KCNQ2 NM_172107.4(KCNQ2):c.775G>T (p.Asp259Tyr) SNV Pathogenic 219240 rs777257591 GRCh37: 20:62073800-62073800
GRCh38: 20:63442447-63442447
8 KCNQ2 NM_172107.4(KCNQ2):c.1764-2A>G SNV Pathogenic 21814 rs118192238 GRCh37: 20:62039891-62039891
GRCh38: 20:63408538-63408538
9 KCNQ2 NM_172107.4(KCNQ2):c.1764-6C>A SNV Pathogenic 21815 rs118192239 GRCh37: 20:62039895-62039895
GRCh38: 20:63408542-63408542
10 KCNQ2 nsv1197577 Deletion Pathogenic 42118 GRCh37: 20:62015806-62064474
GRCh38: 20:63384457-63433124
11 KCNQ2 NM_172107.2:c.1-?c.993+?del Deletion Pathogenic 369740 GRCh37:
GRCh38:
12 KCNQ2 NM_172107.4(KCNQ2):c.340A>G (p.Thr114Ala) SNV Pathogenic 369741 rs1057516076 GRCh37: 20:62078147-62078147
GRCh38: 20:63446794-63446794
13 KCNQ2 NM_172107.4(KCNQ2):c.460T>G (p.Tyr154Asp) SNV Pathogenic 369743 rs1057516078 GRCh37: 20:62076645-62076645
GRCh38: 20:63445292-63445292
14 KCNQ2 NM_172107.2(KCNQ2):c.297-?_1247+?del Deletion Pathogenic 369745 GRCh37:
GRCh38:
15 KCNQ2 NM_172107.4(KCNQ2):c.475G>A (p.Gly159Arg) SNV Pathogenic 369746 rs1057516080 GRCh37: 20:62076630-62076630
GRCh38: 20:63445277-63445277
16 KCNQ2 NM_172107.4(KCNQ2):c.476G>A (p.Gly159Glu) SNV Pathogenic 369747 rs1057516081 GRCh37: 20:62076629-62076629
GRCh38: 20:63445276-63445276
17 KCNQ2 NM_172107.2(KCNQ2):c.388-682_1118+?del Deletion Pathogenic 369749 GRCh37:
GRCh38:
18 KCNQ2 NM_172107.2(KCNQ2):c.388-?_1301+?del Deletion Pathogenic 369750 GRCh37:
GRCh38:
19 KCNQ2 NM_172107.4(KCNQ2):c.650C>A (p.Thr217Asn) SNV Pathogenic 369758 rs1057516090 GRCh37: 20:62076052-62076052
GRCh38: 20:63444699-63444699
20 KCNQ2 NM_172107.4(KCNQ2):c.928-1G>C SNV Pathogenic 369773 rs1057516102 GRCh37: 20:62070074-62070074
GRCh38: 20:63438721-63438721
21 KCNQ2 NM_172107.4(KCNQ2):c.1030T>C (p.Trp344Arg) SNV Pathogenic 369777 rs1057516105 GRCh37: 20:62065250-62065250
GRCh38: 20:63433897-63433897
22 KCNQ2 NM_172107.4(KCNQ2):c.1051C>G (p.Leu351Val) SNV Pathogenic 369778 rs1057516106 GRCh37: 20:62065229-62065229
GRCh38: 20:63433876-63433876
23 KCNQ2 NM_172107.4(KCNQ2):c.1051C>T (p.Leu351Phe) SNV Pathogenic 369779 rs1057516106 GRCh37: 20:62065229-62065229
GRCh38: 20:63433876-63433876
24 KCNQ2 NM_172107.4(KCNQ2):c.1054T>C (p.Ser352Pro) SNV Pathogenic 369781 rs1057516108 GRCh37: 20:62065226-62065226
GRCh38: 20:63433873-63433873
25 KCNQ2 NM_172107.4(KCNQ2):c.1073C>T (p.Ser358Phe) SNV Pathogenic 369783 rs1057516110 GRCh37: 20:62065207-62065207
GRCh38: 20:63433854-63433854
26 KCNQ2 NM_172107.4(KCNQ2):c.1085A>G (p.Tyr362Cys) SNV Pathogenic 369784 rs1057516111 GRCh37: 20:62065195-62065195
GRCh38: 20:63433842-63433842
27 KCNQ2 NM_172107.4(KCNQ2):c.1118+3A>G SNV Pathogenic 369785 rs1057516112 GRCh37: 20:62065159-62065159
GRCh38: 20:63433806-63433806
28 KCNQ2 NM_172107.4(KCNQ2):c.1126del (p.Thr376fs) Deletion Pathogenic 369786 rs1057516113 GRCh37: 20:62062715-62062715
GRCh38: 20:63431362-63431362
29 KCNQ2 NM_172107.2(KCNQ2):c.1119-?_*382del Deletion Pathogenic 369787 GRCh37:
GRCh38:
30 KCNQ2 NM_172107.4(KCNQ2):c.1193_1194AG[1] (p.Lys398_Ser399insTer) Microsatellite Pathogenic 369788 rs1057516114 GRCh37: 20:62059741-62059742
GRCh38: 20:63428388-63428389
31 KCNQ2 NM_172107.4(KCNQ2):c.1247+1G>A SNV Pathogenic 369791 rs1057516115 GRCh37: 20:62055529-62055529
GRCh38: 20:63424176-63424176
32 KCNQ2 NM_172107.4(KCNQ2):c.1418_1419del (p.Leu473fs) Deletion Pathogenic 369795 rs1057516117 GRCh37: 20:62046362-62046363
GRCh38: 20:63415009-63415010
33 KCNQ2 NC_000020.11:g.(?_63413450)_(63415126_?)del Deletion Pathogenic 369796 GRCh37:
GRCh38: 20:63413450-63415126
34 KCNQ2 NM_172107.4(KCNQ2):c.1609A>T (p.Lys537Ter) SNV Pathogenic 369799 rs1555853983 GRCh37: 20:62045463-62045463
GRCh38: 20:63414110-63414110
35 KCNQ2 NM_172107.4(KCNQ2):c.1783C>T (p.Arg595Trp) SNV Pathogenic 369811 rs1555851550 GRCh37: 20:62039870-62039870
GRCh38: 20:63408517-63408517
36 KCNQ2 NM_172107.4(KCNQ2):c.1856_1886del (p.Met619fs) Deletion Pathogenic 369812 rs1555851445 GRCh37: 20:62039767-62039797
GRCh38: 20:63408414-63408444
37 KCNQ3 NM_004519.4(KCNQ3):c.895G>A (p.Glu299Lys) SNV Pathogenic 21413 rs118192247 GRCh37: 8:133187738-133187738
GRCh38: 8:132175491-132175491
38 KCNQ3 NM_004519.4(KCNQ3):c.914A>G (p.Asp305Gly) SNV Pathogenic 21414 rs118192248 GRCh37: 8:133187719-133187719
GRCh38: 8:132175472-132175472
39 KCNQ2 NM_172107.2:c.(1228_1230)del12 Deletion Pathogenic 39096 GRCh37:
GRCh38:
40 KCNQ2 NM_172107.4(KCNQ2):c.1016T>G (p.Leu339Arg) SNV Pathogenic 21755 rs118192217 GRCh37: 20:62069985-62069985
GRCh38: 20:63438632-63438632
41 KCNQ2 NM_172107.4(KCNQ2):c.1057C>G (p.Arg353Gly) SNV Pathogenic 21756 rs118192218 GRCh37: 20:62065223-62065223
GRCh38: 20:63433870-63433870
42 KCNQ2 NM_172107.4(KCNQ2):c.1217+2T>G SNV Pathogenic 21760 rs118192223 GRCh37: 20:62059718-62059718
GRCh38: 20:63428365-63428365
43 KCNQ2 NM_172107.4(KCNQ2):c.1288C>T (p.Pro430Ser) SNV Pathogenic 21761 rs118192224 GRCh37: 20:62050985-62050985
GRCh38: 20:63419632-63419632
44 KCNQ2 NM_172107.4(KCNQ2):c.1569_1581del (p.Cys523fs) Deletion Pathogenic 374999 rs1555854036 GRCh37: 20:62045491-62045503
GRCh38: 20:63414138-63414150
45 KCNQ2 NM_172107.4(KCNQ2):c.1764A>T (p.Arg588Ser) SNV Pathogenic 21770 rs118192237 GRCh37: 20:62039889-62039889
GRCh38: 20:63408536-63408536
46 KCNQ2 NM_172107.4(KCNQ2):c.1910T>G (p.Leu637Arg) SNV Pathogenic 21771 rs118192240 GRCh37: 20:62038706-62038706
GRCh38: 20:63407353-63407353
47 KCNQ2 NM_172107.4(KCNQ2):c.1930del (p.Tyr644fs) Deletion Pathogenic 21772 rs118192241 GRCh37: 20:62038686-62038686
GRCh38: 20:63407333-63407333
48 KCNQ2 NM_172107.4(KCNQ2):c.1956del (p.Thr653fs) Deletion Pathogenic 21773 rs118192242 GRCh37: 20:62038660-62038660
GRCh38: 20:63407307-63407307
49 KCNQ2 NM_172107.4(KCNQ2):c.2015del (p.Ser672fs) Deletion Pathogenic 21775 rs118192243 GRCh37: 20:62038601-62038601
GRCh38: 20:63407248-63407248
50 KCNQ2 NM_172107.4(KCNQ2):c.232del (p.Gln78fs) Deletion Pathogenic 21778 rs118192189 GRCh37: 20:62103585-62103585
GRCh38: 20:63472232-63472232

Copy number variations for Benign Familial Neonatal Epilepsy from CNVD:

7
# CNVD ID Chromosome 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

GO Terms for Benign Familial Neonatal Epilepsy

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.44 STXBP1 SCN8A SCN2A SCN1B SCN1A PRRT2
2 integral component of membrane GO:0016021 10.36 SCN8A SCN2A SCN1B SCN1A PRRT2 PCDH19
3 plasma membrane GO:0005886 10.19 STXBP1 SCN8A SCN2A SCN1B SCN1A PRRT2
4 cell projection GO:0042995 10.13 SCN8A SCN1B PRRT2 KCNB2 KCNA4 KCNA2
5 synapse GO:0045202 10.09 PRRT2 KCNQ3 KCNQ2 KCNA2 KCNA1 GABRG2
6 cell junction GO:0030054 10.07 SCN8A PRRT2 KCNA2 KCNA1 GABRG2 GABRA1
7 cytoplasmic vesicle GO:0031410 10.04 SCN8A PRRT2 KCNA1 GABRG2 GABRA1
8 dendrite GO:0030425 9.99 KCNB2 KCNA2 KCNA1 GABRG2 CHRNA4
9 neuronal cell body GO:0043025 9.94 SCN1A KCNB2 KCNA1 CHRNA4
10 integral component of plasma membrane GO:0005887 9.93 SCN2A SCN1B PCDH19 PCDH10 KCNQ3 KCNQ2
11 glutamatergic synapse GO:0098978 9.92 STXBP1 SCN2A KCNA1 CDKL5
12 postsynaptic membrane GO:0045211 9.88 PRRT2 GABRG2 GABRA1 CHRNA4
13 perikaryon GO:0043204 9.84 SCN1B KCNB2 KCNA2 KCNA1
14 postsynapse GO:0098794 9.81 STXBP1 GABRG2 GABRA1
15 voltage-gated potassium channel complex GO:0008076 9.8 KCNQ3 KCNQ2 KCNB2 KCNA4 KCNA2 KCNA1
16 presynaptic membrane GO:0042734 9.77 PRRT2 KCNA2 KCNA1
17 axon terminus GO:0043679 9.76 PRRT2 KCNA2 KCNA1
18 integral component of presynaptic membrane GO:0099056 9.74 SCN2A KCNA2 KCNA1
19 intercalated disc GO:0014704 9.73 SCN2A SCN1B SCN1A
20 T-tubule GO:0030315 9.72 SCN2A SCN1B SCN1A
21 axon initial segment GO:0043194 9.71 SCN8A SCN1A KCNQ3 KCNQ2
22 sodium channel complex GO:0034706 9.67 SCN2A SCN1B SCN1A
23 voltage-gated sodium channel complex GO:0001518 9.67 SCN8A SCN2A SCN1B SCN1A
24 axon GO:0030424 9.65 STXBP1 SCN8A SCN2A SCN1B SCN1A PRRT2
25 GABA-A receptor complex GO:1902711 9.63 GABRG2 GABRA1
26 calyx of Held GO:0044305 9.63 KCNA2 KCNA1
27 paranode region of axon GO:0033270 9.62 SCN2A KCNA1
28 juxtaparanode region of axon GO:0044224 9.61 KCNA2 KCNA1
29 potassium channel complex GO:0034705 9.61 KCNA2 KCNA1
30 node of Ranvier GO:0033268 9.1 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.97 SCN8A SCN2A SCN1A KCNQ3 KCNQ2 KCNB2
2 chemical synaptic transmission GO:0007268 9.93 KCNQ3 KCNQ2 KCNA1 GABRG2 GABRA1 CHRNA4
3 potassium ion transport GO:0006813 9.88 KCNQ3 KCNQ2 KCNB2 KCNA4 KCNA2 KCNA1
4 potassium ion transmembrane transport GO:0071805 9.85 KCNQ3 KCNQ2 KCNB2 KCNA4 KCNA2 KCNA1
5 ion transmembrane transport GO:0034220 9.85 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2
6 sodium ion transport GO:0006814 9.84 SCN8A SCN2A SCN1B SCN1A
7 protein homooligomerization GO:0051260 9.83 KCNB2 KCNA4 KCNA2 KCNA1
8 regulation of membrane potential GO:0042391 9.83 SCN1A KCNA1 GABRG2 GABRA1 CHRNA4
9 sodium ion transmembrane transport GO:0035725 9.81 SCN8A SCN2A SCN1B SCN1A
10 regulation of postsynaptic membrane potential GO:0060078 9.78 KCNA1 GABRG2 GABRA1 CHRNA4
11 cation transmembrane transport GO:0098655 9.75 SCN8A SCN2A SCN1A
12 nervous system process GO:0050877 9.72 GABRG2 GABRA1 CHRNA4
13 membrane depolarization during action potential GO:0086010 9.67 SCN8A SCN2A SCN1A
14 neuronal action potential GO:0019228 9.65 SCN8A SCN2A SCN1A KCNA2 KCNA1
15 regulation of ion transmembrane transport GO:0034765 9.65 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2
16 membrane depolarization GO:0051899 9.62 SCN1B CHRNA4
17 action potential GO:0001508 9.62 SCN1A CHRNA4
18 cardiac muscle cell action potential involved in contraction GO:0086002 9.61 SCN1B SCN1A
19 synaptic transmission, GABAergic GO:0051932 9.61 GABRG2 GABRA1
20 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.6 SCN1A KCNA1
21 neuromuscular process controlling posture GO:0050884 9.59 SCN1A PRRT2
22 inhibitory synapse assembly GO:1904862 9.58 GABRG2 GABRA1
23 cellular response to histamine GO:0071420 9.57 GABRG2 GABRA1
24 neuronal action potential propagation GO:0019227 9.56 SCN1B SCN1A
25 ion transport GO:0006811 9.44 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.8 KCNQ3 KCNQ2 KCNB2 KCNA4 KCNA2 KCNA1
2 voltage-gated potassium channel activity GO:0005249 9.73 KCNQ3 KCNQ2 KCNB2 KCNA4 KCNA2 KCNA1
3 sodium channel activity GO:0005272 9.71 SCN8A SCN2A SCN1B SCN1A
4 voltage-gated sodium channel activity GO:0005248 9.67 SCN8A SCN2A SCN1B SCN1A
5 neurotransmitter receptor activity GO:0030594 9.65 GABRG2 GABRA1 CHRNA4
6 voltage-gated ion channel activity GO:0005244 9.65 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2
7 cation channel activity GO:0005261 9.63 SCN8A SCN2A SCN1A
8 delayed rectifier potassium channel activity GO:0005251 9.63 KCNQ3 KCNQ2 KCNB2 KCNA4 KCNA2 KCNA1
9 extracellular ligand-gated ion channel activity GO:0005230 9.61 GABRG2 GABRA1 CHRNA4
10 GABA-A receptor activity GO:0004890 9.54 GABRG2 GABRA1
11 GABA-gated chloride ion channel activity GO:0022851 9.52 GABRG2 GABRA1
12 benzodiazepine receptor activity GO:0008503 9.51 GABRG2 GABRA1
13 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.49 GABRG2 GABRA1
14 ion channel activity GO:0005216 9.4 SCN8A SCN2A SCN1A KCNQ3 KCNQ2 KCNB2

Sources for Benign Familial Neonatal Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....