MCID: BNG006
MIFTS: 42

Benign Familial Neonatal Epilepsy

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 54 60 15
Benign Familial Neonatal Convulsions 54 60
Benign Familial Neonatal Seizures 54 60
Bfns 54 60
Epilepsy Benign Neonatal Familial 77
Familial Benign Neonatal Epilepsy 74
Epilepsy, Benign Neonatal, 2 74
Familial Neonatal Seizures 12
Benign Familial Convulsion 74

Characteristics:

Orphanet epidemiological data:

60
benign familial neonatal epilepsy
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:14777
MeSH 45 D020936
MESH via Orphanet 46 C535466 D020936
ICD10 via Orphanet 35 G40.3
UMLS via Orphanet 75 C0220669 C2930911
Orphanet 60 ORPHA1949

Summaries for Benign Familial Neonatal Epilepsy

NIH Rare Diseases : 54 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.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 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.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.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 seizures, benign familial neonatal, 2 and seizures, benign familial infantile, 3, 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 Developmental Biology and Transmission across Chemical Synapses. Affiliated tissues include brain and pituitary, and related phenotypes are seizures and hypertonia

Wikipedia : 77 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 30)
# Related Disease Score Top Affiliating Genes
1 seizures, benign familial neonatal, 2 33.3 KCNQ2 KCNQ3
2 seizures, benign familial infantile, 3 32.2 KCNQ2 KCNQ3 SCN2A
3 benign neonatal seizures 32.2 KCNQ2 KCNQ3 SCN2A
4 seizure disorder 30.0 KCNQ2 SCN2A
5 epilepsy 29.9 KCNQ2 KCNQ3 PRRT2 SCN2A SCN3A
6 benign epilepsy with centrotemporal spikes 29.8 KCNQ2 KCNQ3 PRRT2 SCN2A
7 west syndrome 29.5 CRH KCNQ2 SCN2A
8 seizures, benign familial neonatal, 1 12.0
9 convulsions benign familial neonatal dominant form 11.3
10 kcnq2-related disorders 11.2
11 seizures, benign familial infantile, 1 11.1
12 seizures, benign familial neonatal, autosomal recessive 11.1
13 deafness, autosomal dominant 16 10.1 SCN2A SCN3A
14 neonatal period electroclinical syndrome 10.1 KCNQ2 KCNQ3 SCN2A
15 epilepsy, idiopathic generalized 10.1 KCNQ2 KCNQ3 SCN2A
16 infancy electroclinical syndrome 10.1 KCNQ2 PRRT2 SCN2A
17 visual epilepsy 10.0 KCNQ2 PRRT2 SCN2A
18 epilepsy, idiopathic generalized 10 10.0 GABRA6 KCNQ3 SCN2A
19 epileptic encephalopathy, early infantile, 7 10.0
20 early infantile epileptic encephalopathy 9.9 KCNQ2 SCN2A SCN3A
21 epilepsy, focal, with speech disorder and with or without mental retardation 9.9
22 continuous spike-wave during slow sleep syndrome 9.9
23 episodic ataxia 9.9 PRRT2 SCN2A
24 generalized epilepsy with febrile seizures plus 9.9 KCNQ2 KCNQ3 SCN2A SCN3A
25 epileptic encephalopathy, early infantile, 6 9.9 KCNQ2 KCNQ3 SCN2A SCN3A
26 epilepsy, nocturnal frontal lobe, 1 9.8 CRH KCNQ2 KCNQ3
27 optic nerve glioma 9.7 GFAP LOX
28 benign familial infantile epilepsy 9.7 GABRA6 KCNQ2 KCNQ3 PRRT2 SCN2A
29 pituitary carcinoma 9.7 CRH GFAP
30 binswanger's disease 9.7 CRH GFAP

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:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 hypertonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001276
3 cognitive impairment 60 33 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 CRH GABRA6 GFAP KCNQ2 KCNQ3 LOX
2 growth/size/body region MP:0005378 9.86 CRH GFAP KCNQ2 KCNQ3 MLST8 SCN2A
3 homeostasis/metabolism MP:0005376 9.76 CRH GABRA6 GFAP KCNQ3 LOX SCN2A
4 mortality/aging MP:0010768 9.56 GFAP KCNQ2 KCNQ3 LOX MLST8 SCN2A
5 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

MalaCards organs/tissues related to Benign Familial Neonatal Epilepsy:

42
Brain, Pituitary

Publications for Benign Familial Neonatal Epilepsy

Articles related to Benign Familial Neonatal Epilepsy:

(show top 50) (show all 55)
# Title Authors Year
1
A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome. ( 30782577 )
2019
2
Two Novel KCNQ2 Mutations in 2 Families With Benign Familial Neonatal Convulsions. ( 28503627 )
2017
3
Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures. ( 27781029 )
2016
4
Exacerbation of benign familial neonatal epilepsy induced by massive doses of phenobarbital and midazolam. ( 25079576 )
2014
5
Potassium channel genes and benign familial neonatal epilepsy. ( 25194482 )
2014
6
Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case. ( 23146207 )
2013
7
In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission. ( 23065794 )
2012
8
The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions. ( 20119593 )
2010
9
Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC). ( 19167866 )
2009
10
Benign familial neonatal convulsions: novel mutation in a newborn. ( 19380078 )
2009
11
Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions. ( 19453707 )
2009
12
Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions. ( 19559753 )
2009
13
Developmental changes in KCNQ2 and KCNQ3 expression in human brain: possible contribution to the age-dependent etiology of benign familial neonatal convulsions. ( 18166285 )
2008
14
A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions. ( 18249525 )
2008
15
Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization. ( 18483067 )
2008
16
Benign familial neonatal convulsions: A family with a rare disorder. ( 19966980 )
2008
17
Benign familial neonatal convulsions: always benign? ( 17129708 )
2007
18
Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions. ( 17475800 )
2007
19
A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC). ( 18246739 )
2007
20
Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions. ( 16260777 )
2006
21
Andreas Rett and benign familial neonatal convulsions revisited. ( 16966552 )
2006
22
Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC). ( 16235065 )
2005
23
A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family. ( 15178210 )
2004
24
KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. ( 14534157 )
2003
25
Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels. ( 11784811 )
2002
26
Benign familial neonatal convulsions. ( 11910141 )
2002
27
A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions. ( 10852552 )
2000
28
Novel K+ channel genes in benign familial neonatal convulsions. ( 10961643 )
2000
29
Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor. ( 11175290 )
2000
30
Benign familial neonatal convulsions followed by benign epilepsy with centrotemporal spikes in two siblings. ( 9924911 )
1999
31
Benign familial neonatal epilepsy with mutations in two potassium channel genes. ( 10226745 )
1999
32
Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions. ( 10323247 )
1999
33
Bilateral tonic-clonic epileptic seizures in non-benign familial neonatal convulsions. ( 9165519 )
1997
34
Benign familial neonatal convulsions: abnormal intrauterine movements, provocation by feeding and ICTAL EEG. ( 9530946 )
1997
35
Benign familial neonatal convulsions; psychosocial adjustment to the threat of recurrent seizures. ( 8902929 )
1996
36
Benign familial neonatal convulsions: confirmation of genetic heterogeneity and further evidence for a second locus on chromosome 8q. ( 7705837 )
1995
37
Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20. ( 7980108 )
1994
38
Neonate with benign familial neonatal convulsions: recorded generalized and focal seizures. ( 8024668 )
1994
39
Benign infantile familial convulsions are not an allelic form of the benign familial neonatal convulsions gene. ( 8154876 )
1994
40
Infantile spasms in one member of a family with benign familial neonatal convulsions. ( 8330571 )
1993
41
Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. ( 8102508 )
1993
42
Seizure characteristics in chromosome 20 benign familial neonatal convulsions. ( 8327138 )
1993
43
Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20. ( 1577466 )
1992
44
Benign familial neonatal convulsions: generalized epilepsy? ( 1622522 )
1992
45
Benign familial neonatal convulsions: clinical features of the propositus and comparison with the previously reported cases. ( 1853717 )
1991
46
Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity. ( 1859177 )
1991
47
Benign familial neonatal convulsions are epileptic. ( 1940136 )
1991
48
Benign familial neonatal convulsions linked to genetic markers on chromosome 20. ( 2918897 )
1989
49
Benign familial neonatal convulsions. ( 3804679 )
1986
50
Benign familial neonatal convulsions. ( 4055306 )
1985

Variations for Benign Familial Neonatal Epilepsy

ClinVar genetic disease variations for Benign Familial Neonatal Epilepsy:

6 (show top 50) (show all 508)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ3 NM_004519.3(KCNQ3): c.1241A> G (p.Glu414Gly) single nucleotide variant Benign rs2303995 GRCh37 Chromosome 8, 133175736: 133175736
2 KCNQ3 NM_004519.3(KCNQ3): c.1241A> G (p.Glu414Gly) single nucleotide variant Benign rs2303995 GRCh38 Chromosome 8, 132163489: 132163489
3 KCNQ3 NM_004519.3(KCNQ3): c.1720C> T (p.Pro574Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs74582884 GRCh37 Chromosome 8, 133146616: 133146616
4 KCNQ3 NM_004519.3(KCNQ3): c.1720C> T (p.Pro574Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs74582884 GRCh38 Chromosome 8, 132134369: 132134369
5 KCNQ3 NM_004519.3(KCNQ3): c.2462A> G (p.Asn821Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs118192254 GRCh37 Chromosome 8, 133141666: 133141666
6 KCNQ3 NM_004519.3(KCNQ3): c.2462A> G (p.Asn821Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs118192254 GRCh38 Chromosome 8, 132129419: 132129419
7 KCNQ3 NM_004519.3(KCNQ3): c.988C> T (p.Arg330Cys) single nucleotide variant Pathogenic/Likely pathogenic rs118192251 GRCh37 Chromosome 8, 133186542: 133186542
8 KCNQ3 NM_004519.3(KCNQ3): c.988C> T (p.Arg330Cys) single nucleotide variant Pathogenic/Likely pathogenic rs118192251 GRCh38 Chromosome 8, 132174295: 132174295
9 KCNQ2 NM_172107.3(KCNQ2): c.346_348del (p.Lys116del) deletion Pathogenic rs118192192 GRCh37 Chromosome 20, 62078139: 62078141
10 KCNQ2 NM_172107.3(KCNQ2): c.346_348del (p.Lys116del) deletion Pathogenic rs118192192 GRCh38 Chromosome 20, 63446786: 63446788
11 KCNQ3 NM_004519.3(KCNQ3): c.1059C> T (p.Ser353=) single nucleotide variant Benign rs35413925 GRCh37 Chromosome 8, 133184926: 133184926
12 KCNQ3 NM_004519.3(KCNQ3): c.1059C> T (p.Ser353=) single nucleotide variant Benign rs35413925 GRCh38 Chromosome 8, 132172679: 132172679
13 KCNQ3 NM_004519.3(KCNQ3): c.1071C> G (p.Leu357=) single nucleotide variant Benign rs17575754 GRCh37 Chromosome 8, 133184914: 133184914
14 KCNQ3 NM_004519.3(KCNQ3): c.1071C> G (p.Leu357=) single nucleotide variant Benign rs17575754 GRCh38 Chromosome 8, 132172667: 132172667
15 KCNQ3 NM_004519.3(KCNQ3): c.1551C> T (p.Ala517=) single nucleotide variant Benign/Likely benign rs35538317 GRCh37 Chromosome 8, 133152340: 133152340
16 KCNQ3 NM_004519.3(KCNQ3): c.1551C> T (p.Ala517=) single nucleotide variant Benign/Likely benign rs35538317 GRCh38 Chromosome 8, 132140093: 132140093
17 KCNQ3 NM_004519.3(KCNQ3): c.660T> C (p.Asn220=) single nucleotide variant Benign rs41272389 GRCh37 Chromosome 8, 133192521: 133192521
18 KCNQ3 NM_004519.3(KCNQ3): c.660T> C (p.Asn220=) single nucleotide variant Benign rs41272389 GRCh38 Chromosome 8, 132180274: 132180274
19 KCNQ3 NM_004519.3(KCNQ3): c.732T> C (p.Gly244=) single nucleotide variant Benign rs41272387 GRCh37 Chromosome 8, 133192449: 133192449
20 KCNQ3 NM_004519.3(KCNQ3): c.732T> C (p.Gly244=) single nucleotide variant Benign rs41272387 GRCh38 Chromosome 8, 132180202: 132180202
21 KCNQ3 NM_004519.3(KCNQ3): c.948C> T (p.Thr316=) single nucleotide variant Benign/Likely benign rs142144538 GRCh37 Chromosome 8, 133186582: 133186582
22 KCNQ3 NM_004519.3(KCNQ3): c.948C> T (p.Thr316=) single nucleotide variant Benign/Likely benign rs142144538 GRCh38 Chromosome 8, 132174335: 132174335
23 KCNQ3 NM_004519.3(KCNQ3): c.1917C> T (p.Leu639=) single nucleotide variant Benign/Likely benign rs78731303 GRCh37 Chromosome 8, 133142211: 133142211
24 KCNQ3 NM_004519.3(KCNQ3): c.1917C> T (p.Leu639=) single nucleotide variant Benign/Likely benign rs78731303 GRCh38 Chromosome 8, 132129964: 132129964
25 KCNQ3 NM_004519.3(KCNQ3): c.2097C> T (p.Phe699=) single nucleotide variant Benign rs139678098 GRCh37 Chromosome 8, 133142031: 133142031
26 KCNQ3 NM_004519.3(KCNQ3): c.2097C> T (p.Phe699=) single nucleotide variant Benign rs139678098 GRCh38 Chromosome 8, 132129784: 132129784
27 KCNQ3 NM_004519.3(KCNQ3): c.2168G> A (p.Gly723Glu) single nucleotide variant Benign rs142149782 GRCh37 Chromosome 8, 133141960: 133141960
28 KCNQ3 NM_004519.3(KCNQ3): c.2168G> A (p.Gly723Glu) single nucleotide variant Benign rs142149782 GRCh38 Chromosome 8, 132129713: 132129713
29 KCNQ3 NM_004519.3(KCNQ3): c.2306C> A (p.Pro769His) single nucleotide variant Benign/Likely benign rs114095081 GRCh37 Chromosome 8, 133141822: 133141822
30 KCNQ3 NM_004519.3(KCNQ3): c.2306C> A (p.Pro769His) single nucleotide variant Benign/Likely benign rs114095081 GRCh38 Chromosome 8, 132129575: 132129575
31 KCNQ3 NM_004519.3(KCNQ3): c.2349G> A (p.Thr783=) single nucleotide variant Benign/Likely benign rs145063831 GRCh37 Chromosome 8, 133141779: 133141779
32 KCNQ3 NM_004519.3(KCNQ3): c.2349G> A (p.Thr783=) single nucleotide variant Benign/Likely benign rs145063831 GRCh38 Chromosome 8, 132129532: 132129532
33 KCNQ3 NM_004519.3(KCNQ3): c.1564G> A (p.Val522Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143683496 GRCh37 Chromosome 8, 133152327: 133152327
34 KCNQ3 NM_004519.3(KCNQ3): c.1564G> A (p.Val522Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143683496 GRCh38 Chromosome 8, 132140080: 132140080
35 KCNQ3 NM_004519.3(KCNQ3): c.1994C> T (p.Ser665Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147173555 GRCh37 Chromosome 8, 133142134: 133142134
36 KCNQ3 NM_004519.3(KCNQ3): c.1994C> T (p.Ser665Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147173555 GRCh38 Chromosome 8, 132129887: 132129887
37 KCNQ3 NM_004519.3(KCNQ3): c.2391C> T (p.His797=) single nucleotide variant Conflicting interpretations of pathogenicity rs763446963 GRCh37 Chromosome 8, 133141737: 133141737
38 KCNQ3 NM_004519.3(KCNQ3): c.2391C> T (p.His797=) single nucleotide variant Conflicting interpretations of pathogenicity rs763446963 GRCh38 Chromosome 8, 132129490: 132129490
39 KCNQ3 NM_001204824.1(KCNQ3): c.2083G> T (p.Asp695Tyr) single nucleotide variant Uncertain significance rs530506549 GRCh37 Chromosome 8, 133141685: 133141685
40 KCNQ3 NM_001204824.1(KCNQ3): c.2083G> T (p.Asp695Tyr) single nucleotide variant Uncertain significance rs530506549 GRCh38 Chromosome 8, 132129438: 132129438
41 KCNQ3 NM_004519.3(KCNQ3): c.2383G> A (p.Val795Ile) single nucleotide variant Uncertain significance rs764544537 GRCh37 Chromosome 8, 133141745: 133141745
42 KCNQ3 NM_004519.3(KCNQ3): c.2383G> A (p.Val795Ile) single nucleotide variant Uncertain significance rs764544537 GRCh38 Chromosome 8, 132129498: 132129498
43 KCNQ3 NM_001204824.1(KCNQ3): c.1970G> A (p.Arg657Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201328910 GRCh37 Chromosome 8, 133141798: 133141798
44 KCNQ3 NM_001204824.1(KCNQ3): c.1970G> A (p.Arg657Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201328910 GRCh38 Chromosome 8, 132129551: 132129551
45 KCNQ3 NM_004519.3(KCNQ3): c.2263G> A (p.Asp755Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs150821246 GRCh37 Chromosome 8, 133141865: 133141865
46 KCNQ3 NM_004519.3(KCNQ3): c.2263G> A (p.Asp755Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs150821246 GRCh38 Chromosome 8, 132129618: 132129618
47 KCNQ3 NM_001204824.1(KCNQ3): c.1768T> C (p.Tyr590His) single nucleotide variant Uncertain significance rs181746838 GRCh37 Chromosome 8, 133142000: 133142000
48 KCNQ3 NM_001204824.1(KCNQ3): c.1768T> C (p.Tyr590His) single nucleotide variant Uncertain significance rs181746838 GRCh38 Chromosome 8, 132129753: 132129753
49 KCNQ3 NM_004519.3(KCNQ3): c.2071G> A (p.Gly691Ser) single nucleotide variant Likely benign rs747379988 GRCh37 Chromosome 8, 133142057: 133142057
50 KCNQ3 NM_004519.3(KCNQ3): c.2071G> A (p.Gly691Ser) single nucleotide variant Likely benign rs747379988 GRCh38 Chromosome 8, 132129810: 132129810

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:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.77 GABRA6 KCNQ2 KCNQ3 SCN2A STX1A
2 axon GO:0030424 9.46 PRRT2 SCN2A SCN3A STX1A
3 integral component of presynaptic membrane GO:0099056 9.4 SCN2A STX1A
4 axon initial segment GO:0043194 9.32 KCNQ2 KCNQ3
5 voltage-gated sodium channel complex GO:0001518 9.26 SCN2A SCN3A
6 voltage-gated potassium channel complex GO:0008076 9.13 KCNQ2 KCNQ3 STX1A
7 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 transmembrane transport GO:0055085 9.73 KCNQ2 KCNQ3 SCN2A SCN3A
2 ion transport GO:0006811 9.65 GABRA6 KCNQ2 KCNQ3 SCN2A SCN3A
3 long-term synaptic potentiation GO:0060291 9.46 CRH GFAP
4 ion transmembrane transport GO:0034220 9.46 GABRA6 KCNQ2 SCN2A SCN3A
5 neuronal action potential GO:0019228 9.4 SCN2A SCN3A
6 membrane depolarization during action potential GO:0086010 9.37 SCN2A SCN3A
7 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 9.32 PRRT2 STX1A
8 chemical synaptic transmission GO:0007268 9.26 CRH GABRA6 KCNQ2 KCNQ3
9 regulation of ion transmembrane transport GO:0034765 8.92 KCNQ2 KCNQ3 SCN2A SCN3A

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel activity GO:0005249 9.37 KCNQ2 KCNQ3
2 ion channel activity GO:0005216 9.33 GABRA6 SCN2A SCN3A
3 delayed rectifier potassium channel activity GO:0005251 9.32 KCNQ2 KCNQ3
4 sodium channel activity GO:0005272 9.26 SCN2A SCN3A
5 voltage-gated sodium channel activity GO:0005248 8.96 SCN2A SCN3A
6 voltage-gated ion channel activity GO:0005244 8.92 KCNQ2 KCNQ3 SCN2A SCN3A

Sources for Benign Familial Neonatal Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
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