MCID: BNG026
MIFTS: 39

Benign Neonatal Seizures

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Benign Neonatal Seizures

MalaCards integrated aliases for Benign Neonatal Seizures:

Name: Benign Neonatal Seizures 12 15
Benign Familial Neonatal Seizures 12 26 30 6
Benign Neonatal Epilepsy 26 6 74
Benign Neonatal Convulsions 12 26
Benign Familial Neonatal Convulsions 26
Benign Familial Neonatal Epilepsy 26
Familial Benign Neonatal Epilepsy 74
Epilepsy, Benign Neonatal, 2 74
Neonatal Convulsions Benign 56
Benign Familial Convulsion 74
Seizures, Benign Neonatal 56
Epilepsy, Benign Neonatal 45
Bfns 26

Classifications:



External Ids:

Disease Ontology 12 DOID:14264
MeSH 45 D020936
NCIt 51 C84593
SNOMED-CT 69 38281008

Summaries for Benign Neonatal Seizures

Genetics Home Reference : 26 Benign familial neonatal seizures (BFNS) is a condition characterized by recurrent seizures in newborn babies. The seizures begin around day 3 of life and usually go away within 1 to 4 months. The seizures can involve only one side of the brain (focal seizures) or both sides (generalized seizures). Many infants with this condition have generalized tonic-clonic seizures (also known as grand mal seizures). This type of seizure involves both sides of the brain and affects the entire body, causing muscle rigidity, convulsions, and loss of consciousness.

MalaCards based summary : Benign Neonatal Seizures, also known as benign familial neonatal seizures, is related to seizures, benign familial neonatal, 2 and benign familial neonatal epilepsy, and has symptoms including cyanosis An important gene associated with Benign Neonatal Seizures is KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2), and among its related pathways/superpathways are Circadian entrainment and Transmission across Chemical Synapses. Affiliated tissues include brain, and related phenotype is nervous system.

Disease Ontology : 12 A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has material basis in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion.

Wikipedia : 77 Benign neonatal seizures include two disorders benign idiopathic neonatal seizures and benign familial... more...

Related Diseases for Benign Neonatal Seizures

Diseases in the Benign Neonatal Seizures family:

Seizures, Benign Familial Neonatal, 1 Seizures, Benign Familial Neonatal, 2
Seizures, Benign Familial Neonatal, Autosomal Recessive Seizures, Benign Familial Neonatal, 3
Seizures Benign Familial Neonatal Recessive Form

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 seizures, benign familial neonatal, 2 33.2 KCNQ2 KCNQ3
2 benign familial neonatal epilepsy 32.9 KCNQ2 KCNQ3 SCN2A
3 benign familial infantile epilepsy 31.8 KCNQ2 KCNQ3 SCN2A
4 epilepsy, idiopathic generalized 31.1 CHRNA4 KCNQ2 KCNQ3 SCN2A
5 seizures, benign familial infantile, 3 31.0 CHRNA4 KCNQ2 KCNQ3 SCN2A
6 seizure disorder 30.0 KCNQ2 SCN2A
7 benign epilepsy with centrotemporal spikes 29.5 KCNQ2 KCNQ3 KCNQ5 SCN2A
8 epilepsy 29.2 CHRNA4 KCNQ2 KCNQ3 SCN2A
9 seizures, benign familial neonatal, 1 12.0
10 convulsions benign familial neonatal dominant form 11.3
11 seizures, benign familial neonatal, 3 11.3
12 myokymia with neonatal epilepsy 11.3
13 kcnq2-related disorders 11.2
14 seizures, benign familial infantile, 1 11.1
15 seizures, benign familial neonatal, autosomal recessive 11.1
16 infancy electroclinical syndrome 10.1 KCNQ2 SCN2A
17 febrile seizures 10.0 CHRNA4 KCNQ2
18 epileptic encephalopathy, early infantile, 7 10.0
19 west syndrome 10.0
20 autosomal dominant non-syndromic intellectual disability 10.0 KCNQ5 SCN2A
21 neonatal period electroclinical syndrome 9.9 KCNQ2 KCNQ3 SCN2A
22 generalized epilepsy with febrile seizures plus 9.9 KCNQ2 KCNQ3 SCN2A
23 visual epilepsy 9.9 KCNQ2 SCN2A
24 epileptic encephalopathy, early infantile, 6 9.9 KCNQ2 KCNQ3 SCN2A
25 epilepsy, focal, with speech disorder and with or without mental retardation 9.9
26 continuous spike-wave during slow sleep syndrome 9.9
27 long qt syndrome 1 9.9 KCNE2 KCNQ4
28 epilepsy, nocturnal frontal lobe, 1 9.9 CHRNA4 KCNQ2 KCNQ3
29 long qt syndrome 9.8 KCNE2 KCNQ2 KCNQ3
30 episodic ataxia 9.8 KCNA2 SCN2A
31 epilepsy, idiopathic generalized 10 9.7 CHRNA4 KCNQ3 SCN2A
32 focal epilepsy 9.7 CHRNA4 SCN2A

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



Diseases related to Benign Neonatal Seizures

Symptoms & Phenotypes for Benign Neonatal Seizures

UMLS symptoms related to Benign Neonatal Seizures:


cyanosis

MGI Mouse Phenotypes related to Benign Neonatal Seizures:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.17 CHRNA4 KCNA2 KCNQ2 KCNQ3 KCNQ4 KCNQ5

Drugs & Therapeutics for Benign Neonatal Seizures

Search Clinical Trials , NIH Clinical Center for Benign Neonatal Seizures

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: epilepsy, benign neonatal

Genetic Tests for Benign Neonatal Seizures

Genetic tests related to Benign Neonatal Seizures:

# Genetic test Affiliating Genes
1 Benign Familial Neonatal Seizures 30

Anatomical Context for Benign Neonatal Seizures

MalaCards organs/tissues related to Benign Neonatal Seizures:

42
Brain

Publications for Benign Neonatal Seizures

Articles related to Benign Neonatal Seizures:

(show all 18)
# Title Authors Year
1
A KCNQ2 E515D mutation associated with benign familial neonatal seizures and continuous spike and waves during slow-wave sleep syndrome in Taiwan. ( 28038823 )
2017
2
Novel KCNQ2 mutation in a large Emirati family with benign familial neonatal seizures. ( 23290024 )
2013
3
Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures. ( 25667822 )
2013
4
KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2. ( 22884718 )
2012
5
Neutralization of a unique, negatively-charged residue in the voltage sensor of K V 7.2 subunits in a sporadic case of benign familial neonatal seizures. ( 19344764 )
2009
6
Novel mutation in KCNQ2 causing benign familial neonatal seizures. ( 19818940 )
2009
7
Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures. ( 19822871 )
2009
8
Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. ( 17675531 )
2007
9
Correlating the clinical and genetic features of benign familial neonatal seizures (BFNS) with the functional consequences of underlying mutations. ( 18698150 )
2007
10
De novo KCNQ2 mutations in patients with benign neonatal seizures. ( 15596769 )
2004
11
Benign Familial Neonatal Seizures. ( 1288252 )
1992
12
An autosomal recessive form of benign familial neonatal seizures. ( 1778008 )
1991
13
Benign neonatal seizures. ( 2211994 )
1990
14
Autosomal dominant benign neonatal seizures. ( 3189416 )
1988
15
Benign familial neonatal seizures: clinical and electroencephalographic characteristics. ( 3508699 )
1986
16
The syndrome of benign familial neonatal seizures. ( 4048807 )
1985
17
Dominant benign neonatal seizures. ( 7439556 )
1980
18
Benign familial neonatal seizures. ( 7350900 )
1980

Variations for Benign Neonatal Seizures

ClinVar genetic disease variations for Benign Neonatal Seizures:

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

Copy number variations for Benign Neonatal Seizures 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 Neonatal Seizures

Search GEO for disease gene expression data for Benign Neonatal Seizures.

Pathways for Benign Neonatal Seizures

GO Terms for Benign Neonatal Seizures

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.97 CHRNA4 KCNA2 KCNE2 KCNQ2 KCNQ3 KCNQ4
2 plasma membrane GO:0005886 9.92 CHRNA4 KCNA2 KCNE2 KCNQ2 KCNQ3 KCNQ4
3 integral component of plasma membrane GO:0005887 9.63 CHRNA4 KCNA2 KCNQ2 KCNQ3 KCNQ5 SCN2A
4 integral component of presynaptic membrane GO:0099056 9.43 CHRNA4 KCNA2 SCN2A
5 axon initial segment GO:0043194 9.4 KCNQ2 KCNQ3
6 node of Ranvier GO:0033268 9.13 KCNQ2 KCNQ3 SCN2A
7 voltage-gated potassium channel complex GO:0008076 9.1 KCNA2 KCNE2 KCNQ2 KCNQ3 KCNQ4 KCNQ5
8 membrane GO:0016020 10.03 CHRNA4 KCNA2 KCNE2 KCNQ2 KCNQ3 KCNQ4

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.8 KCNA2 KCNQ2 KCNQ3 KCNQ4 KCNQ5 SCN2A
2 potassium ion transport GO:0006813 9.73 KCNA2 KCNE2 KCNQ2 KCNQ3 KCNQ4 KCNQ5
3 ion transmembrane transport GO:0034220 9.63 CHRNA4 KCNQ2 SCN2A
4 potassium ion transmembrane transport GO:0071805 9.63 KCNA2 KCNE2 KCNQ2 KCNQ3 KCNQ4 KCNQ5
5 chemical synaptic transmission GO:0007268 9.61 CHRNA4 KCNQ2 KCNQ3
6 ion transport GO:0006811 9.56 CHRNA4 KCNA2 KCNE2 KCNQ2 KCNQ3 KCNQ4
7 sensory perception of pain GO:0019233 9.48 CHRNA4 KCNA2
8 regulation of dopamine secretion GO:0014059 9.4 CHRNA4 KCNA2
9 neuronal action potential GO:0019228 9.37 KCNA2 SCN2A
10 regulation of ion transmembrane transport GO:0034765 9.17 KCNA2 KCNE2 KCNQ2 KCNQ3 KCNQ4 KCNQ5

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

# Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.73 KCNA2 KCNE2 KCNQ2 KCNQ3 KCNQ4 KCNQ5
2 voltage-gated potassium channel activity GO:0005249 9.63 KCNA2 KCNE2 KCNQ2 KCNQ3 KCNQ4 KCNQ5
3 calmodulin binding GO:0005516 9.62 KCNQ2 KCNQ3 KCNQ4 KCNQ5
4 voltage-gated ion channel activity GO:0005244 9.5 KCNA2 KCNE2 KCNQ2 KCNQ3 KCNQ4 KCNQ5
5 delayed rectifier potassium channel activity GO:0005251 9.1 KCNA2 KCNE2 KCNQ2 KCNQ3 KCNQ4 KCNQ5

Sources for Benign Neonatal Seizures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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