BFNE
MCID: BNG026
MIFTS: 49

Benign Neonatal Seizures (BFNE)

Categories: Genetic diseases, Neuronal 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 43 29 6
Benign Neonatal Epilepsy 43 6 70
Benign Neonatal Convulsions 12 43
Benign Familial Neonatal Convulsions 43
Benign Familial Neonatal Epilepsy 43
Familial Benign Neonatal Epilepsy 70
Benign Familial Neonatal Seizure 36
Epilepsy, Benign Neonatal, 2 70
Neonatal Convulsions Benign 54
Benign Familial Convulsion 70
Seizures, Benign Neonatal 54
Epilepsy, Benign Neonatal 44
Bfns 43
Bfne 43

Classifications:



External Ids:

Disease Ontology 12 DOID:14264
KEGG 36 H00806
MeSH 44 D020936
NCIt 50 C84593
SNOMED-CT 67 38281008
UMLS 70 C0220669 C0270851 C1852581 more

Summaries for Benign Neonatal Seizures

MedlinePlus Genetics : 43 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). This condition is often associated with 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 a combination of seizure types: tonic seizures, which are characterized by uncontrolled muscle stiffness and rigidity, and clonic seizures, which are characterized by uncontrolled jerking of the muscles. Seizure episodes in infants with BFNS typically begin with tonic stiffness and pauses in breathing (apnea) followed by clonic jerking. A test called an electroencephalogram (EEG) is used to measure the electrical activity of the brain. Abnormalities on an EEG test, measured during no seizure activity, can indicate a risk for seizures. However, infants with BFNS usually have normal EEG readings. In some affected individuals, the EEG shows a specific abnormality called the theta pointu alternant pattern. By age 2, most affected individuals who had EEG abnormalities have a normal EEG reading.Typically, seizures are the only symptom of BFNS, and most people with this condition develop normally. However, some affected individuals develop intellectual disability that becomes noticeable in early childhood. A small percentage of people with BFNS also have a condition called myokymia, which is an involuntary rippling movement of the muscles. In addition, in about 15 percent of people with BFNS, recurrent seizures (epilepsy) will come back later in life after the seizures associated with BFNS have gone away. The age that epilepsy begins is variable.

MalaCards based summary : Benign Neonatal Seizures, also known as benign familial neonatal seizures, is related to seizures, benign familial neonatal, 2 and convulsions benign familial neonatal dominant form, and has symptoms including cyanosis An important gene associated with Benign Neonatal Seizures is KCNQ3 (Potassium Voltage-Gated Channel Subfamily Q Member 3), and among its related pathways/superpathways are Cholinergic synapse and Circadian entrainment. The drugs Phenobarbital and Excitatory Amino Acid Antagonists have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are behavior/neurological and 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.

KEGG : 36 Benign familial neonatal seizure (BFNS) is a benign epilepsy syndromes with autosomal dominant inheritance. They are a group of epilepsies which have a primary genetic background, usually no structural brain abnormalities and most of them have a benign course without additional neurological symptoms. BFNS are caused by loss-of-function mutations in the two genes KCNQ2 and KCNQ3 encoding the voltage-gated K+ channels.

Wikipedia : 73 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

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

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 seizures, benign familial neonatal, 2 33.1 KCNQ3 KCNQ2
2 convulsions benign familial neonatal dominant form 32.3 KCNQ3 KCNQ2
3 seizures, benign familial infantile, 3 32.3 SCN2A KCNQ2
4 kcnq2-related disorders 30.7 KCNQ3 KCNQ2
5 developmental and epileptic encephalopathy 7 30.6 KCNQ3 KCNQ2
6 febrile seizures 30.5 SCN2A SCN1B SCN1A KCNQ2 CHRNB2
7 status epilepticus 30.1 SCN1A PCDH19 KCNQ2
8 developmental and epileptic encephalopathy 1 30.1 STXBP1 SCN1A KCNQ2 KCNA2 CDKL5
9 developmental and epileptic encephalopathy 30.1 STXBP1 SCN1A KCNQ2 KCNB1 CDKL5
10 rett syndrome 29.9 STXBP1 SCN1A KCNB1 CDKL5
11 ohtahara syndrome 29.9 STXBP1 SCN2A SCN1A KCNQ2 KCNB1 CDKL5
12 reflex epilepsy 29.9 SCN2A SCN1A CHRNB2 CHRNA4 CHRNA2
13 encephalopathy 29.6 STXBP1 SCN2A SCN1A PNPO PCDH19 KCNQ2
14 focal epilepsy 29.4 SCN2A SCN1A KCNA1 CHRNB2 CHRNA4 CHRNA2
15 epilepsy, nocturnal frontal lobe, 1 29.3 SCN1B SCN1A KCNQ3 KCNQ2 KCNA1 CHRNB2
16 alacrima, achalasia, and mental retardation syndrome 29.2 STXBP1 SCN2A SCN1A KCNQ3 KCNQ2 KCNB1
17 west syndrome 28.9 STXBP1 SCN2A SCN1B SCN1A PNPO PCDH19
18 benign familial neonatal epilepsy 28.8 STXBP1 SCN2A SCN1B SCN1A PCDH19 KCNQ3
19 seizure disorder 28.7 STXBP1 SCN2A SCN1B SCN1A PNPO PCDH19
20 benign familial infantile epilepsy 28.0 STXBP1 SCN2A SCN1B SCN1A PCDH19 KCNQ5
21 autosomal dominant nocturnal frontal lobe epilepsy 27.9 STXBP1 SCN2A SCN1B SCN1A PNPO PCDH19
22 epilepsy, idiopathic generalized 27.9 STXBP1 SCN2A SCN1B SCN1A PCDH19 KCNQ3
23 benign epilepsy with centrotemporal spikes 27.7 STXBP1 SCN2A SCN1B SCN1A PCDH19 KCNQ5
24 epilepsy 27.5 STXBP1 SCN2A SCN1B SCN1A PCDH19 KCNQ3
25 early infantile epileptic encephalopathy 27.2 STXBP1 SCN2A SCN1B SCN1A PNPO PCDH19
26 myokymia with neonatal epilepsy 11.2
27 seizures, benign familial infantile, 1 11.2
28 genetic epilepsy with febrile seizures plus 10.4 SCN2A SCN1A
29 hereditary episodic ataxia 10.3 SCN2A KCNA1
30 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.3 KCNQ3 KCNQ2 CHRNA4
31 febrile infection-related epilepsy syndrome 10.3 SCN1A PCDH19
32 partial motor epilepsy 10.3 SCN2A SCN1A KCNQ2
33 stxbp1 encephalopathy 10.3 STXBP1 CDKL5
34 febrile seizures, familial, 6 10.3 SCN1B SCN1A
35 epilepsy, nocturnal frontal lobe, 2 10.3 CHRNB2 CHRNA4
36 generalized epilepsy with febrile seizures plus, type 1 10.3 SCN1B SCN1A
37 social phobia 10.3
38 epilepsy, nocturnal frontal lobe, 3 10.3 CHRNB2 CHRNA4
39 migraine, familial hemiplegic, 3 10.2 SCN2A SCN1A KCNA1
40 epilepsy, familial temporal lobe, 5 10.2 SCN1B SCN1A
41 low-grade astrocytoma 10.2 SCN2A SCN1A
42 developmental and epileptic encephalopathy 13 10.2 SCN2A SCN1B SCN1A
43 febrile seizures, familial, 5 10.2 SCN2A SCN1B SCN1A
44 pyridoxamine 5-prime-phosphate oxidase deficiency 10.2 PNPO KCNQ2
45 developmental and epileptic encephalopathy 4 10.2 STXBP1 CDKL5
46 developmental and epileptic encephalopathy 26 10.2 KCNB1 KCNA2
47 febrile seizures, familial, 8 10.2 SCN1B SCN1A
48 long qt syndrome 3 10.2 SCN1B SCN1A KCNQ1
49 febrile seizures, familial, 4 10.2 SCN1B SCN1A
50 paramyotonia congenita of von eulenburg 10.2 SCN2A SCN1B SCN1A

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.86 CDKL5 CHRNA4 CHRNB2 EFHC1 GABRA1 KCNA1
2 nervous system MP:0003631 9.6 CDKL5 CHRNA2 CHRNA4 CHRNB2 EFHC1 GABRA1

Drugs & Therapeutics for Benign Neonatal Seizures

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Phenobarbital Approved, Investigational Phase 3 50-06-6 4763
2 Excitatory Amino Acid Antagonists Phase 3
3 Anticonvulsants Phase 3
4 Neurotransmitter Agents Phase 3
5 Hypnotics and Sedatives Phase 3
6 GABA Modulators Phase 3
7
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
8
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
9
Naloxone Approved, Vet_approved 465-65-6 5284596
10 Narcotics
11 Anesthetics, General
12 Analgesics
13 Analgesics, Opioid
14 Anesthetics
15 Anesthetics, Intravenous
16 Anesthetics, Local
17 Narcotic Antagonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Double-Blind, Controlled Study to Assess the Efficacy and Safety of Intravenous Phenobarbital in Neonatal Seizures Recruiting NCT04320940 Phase 3 Phenobarbital Sodium Injection
2 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 Neonatal Seizures

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Phenobarbital
Phenobarbital Sodium

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 29

Anatomical Context for Benign Neonatal Seizures

MalaCards organs/tissues related to Benign Neonatal Seizures:

40
Brain

Publications for Benign Neonatal Seizures

Articles related to Benign Neonatal Seizures:

(show top 50) (show all 94)
# Title Authors PMID Year
1
Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP2-Dependent K+ Channel Gating. 6 61
29383681 2018
2
Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. 6 61
25740509 2015
3
KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. 54 6
18625963 2008
4
Epilepsy-associated mutations in the voltage sensor of KCNQ3 affect voltage dependence of channel opening. 6
30578330 2019
5
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. 6
29852413 2018
6
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. 6
29655203 2018
7
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 6
28628100 2017
8
Prevalence and architecture of de novo mutations in developmental disorders. 6
28135719 2017
9
Novel genetic causes for cerebral visual impairment. 6
26350515 2016
10
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
24375629 2014
11
De novo mutations in epileptic encephalopathies. 6
23934111 2013
12
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 6
23020937 2012
13
Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes. 6
19464834 2009
14
Splicing in action: assessing disease causing sequence changes. 6
16199547 2005
15
A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions. 54 61
18249525 2008
16
Inherited neuromyotonia: a clinical and genetic study of a family. 61 54
17140792 2007
17
De novo KCNQ2 mutations in patients with benign neonatal seizures. 54 61
15596769 2004
18
Flexible Stoichiometry: Implications for KCNQ2- and KCNQ3-Associated Neurodevelopmental Disorders. 61
33794528 2021
19
Structural Mechanism of ω-Currents in a Mutated Kv7.2 Voltage Sensor Domain from Molecular Dynamics Simulations. 61
33570938 2021
20
Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy. 61
33754465 2021
21
Facial myokymia in inherited peripheral nerve hyperexcitability syndrome. 61
32184343 2020
22
Epileptic Encephalopathy In A Patient With A Novel Variant In The Kv7.2 S2 Transmembrane Segment: Clinical, Genetic, and Functional Features. 61
31295832 2019
23
A de novo KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data. 61
31552204 2019
24
A novel de novo KCNQ2 mutation in a child with treatmentresistant early-onset epileptic encephalopathy. 61
31951342 2019
25
Neonatal epilepsy genetics. 61
29426807 2018
26
A KCNQ2 E515D mutation associated with benign familial neonatal seizures and continuous spike and waves during slow-wave sleep syndrome in Taiwan. 61
28038823 2017
27
Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures. 61
28602030 2017
28
Profile of neonatal epilepsies: Characteristics of a prospective US cohort. 61
28733343 2017
29
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations. 61
27535030 2017
30
Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome. 61
28686619 2017
31
Rapid and safe response to low-dose carbamazepine in neonatal epilepsy. 61
27888506 2016
32
Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate. 61
27905566 2016
33
Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures. 61
27781029 2016
34
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. 61
27781031 2016
35
Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing. 61
25819767 2015
36
Epilepsy-causing mutations in Kv7.2 C-terminus affect binding and functional modulation by calmodulin. 61
26073431 2015
37
Phenotypes of children with 20q13.3 microdeletion affecting KCNQ2 and CHRNA4. 61
26030193 2015
38
A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability. 61
25524373 2015
39
The variable phenotypes of KCNQ-related epilepsy. 61
25052858 2014
40
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. 61
24318194 2014
41
Potassium channel genes and benign familial neonatal epilepsy. 61
25194482 2014
42
Calmodulin orchestrates the heteromeric assembly and the trafficking of KCNQ2/3 (Kv7.2/3) channels in neurons. 61
24333508 2014
43
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 61
23621294 2013
44
Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits. 61
23440208 2013
45
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 61
23360469 2013
46
Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures. 61
25667822 2013
47
Neonatal seizures. 61
23622196 2013
48
Effects of KCNQ2 gene truncation on M-type Kv7 potassium currents. 61
23977150 2013
49
Novel KCNQ2 mutation in a large Emirati family with benign familial neonatal seizures. 61
23290024 2013
50
Brain maturation and epilepsy. 61
23622192 2013

Variations for Benign Neonatal Seizures

ClinVar genetic disease variations for Benign Neonatal Seizures:

6 (show top 50) (show all 440)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNQ2 NM_172107.4(KCNQ2):c.346_348del (p.Lys116del) Deletion Pathogenic 21785 rs118192192 GRCh37: 20:62078139-62078141
GRCh38: 20:63446786-63446788
2 KCNQ3 NM_004519.4(KCNQ3):c.1722del (p.Gly575fs) Deletion Pathogenic 841488 GRCh37: 8:133146614-133146614
GRCh38: 8:132134367-132134367
3 KCNQ3 NM_004519.4(KCNQ3):c.61_77del (p.Gly20_Gly21insTer) Deletion Pathogenic 842150 GRCh37: 8:133492703-133492719
GRCh38: 8:132480456-132480472
4 KCNQ3 NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr) SNV Pathogenic 661030 rs1586800133 GRCh37: 8:133186580-133186580
GRCh38: 8:132174333-132174333
5 KCNQ3 NM_004519.4(KCNQ3):c.1218_1219CT[1] (p.Ser407fs) Microsatellite Pathogenic 839826 GRCh37: 8:133182595-133182596
GRCh38: 8:132170348-132170349
6 KCNQ3 NM_004519.4(KCNQ3):c.1078C>T (p.Gln360Ter) SNV Pathogenic 538551 rs1554627019 GRCh37: 8:133184907-133184907
GRCh38: 8:132172660-132172660
7 KCNQ3 NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) SNV Pathogenic 205963 rs796052676 GRCh37: 8:133192493-133192493
GRCh38: 8:132180246-132180246
8 KCNQ3 NM_004519.4(KCNQ3):c.689G>A (p.Arg230His) SNV Pathogenic 424397 GRCh37: 8:133192492-133192492
GRCh38: 8:132180245-132180245
9 KCNQ3 NM_004519.4(KCNQ3):c.679C>T (p.Arg227Ter) SNV Pathogenic 205961 rs796052675 GRCh37: 8:133192502-133192502
GRCh38: 8:132180255-132180255
10 KCNQ3 NM_004519.4(KCNQ3):c.1045-1G>T SNV Likely pathogenic 853233 GRCh37: 8:133184941-133184941
GRCh38: 8:132172694-132172694
11 KCNQ3 NC_000008.11:g.(?_132180137)_(132186201_?)dup Duplication Likely pathogenic 831959 GRCh37: 8:133192384-133198448
GRCh38:
12 KCNQ3 NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) SNV Likely pathogenic 21417 rs118192251 GRCh37: 8:133186542-133186542
GRCh38: 8:132174295-132174295
13 KCNQ3 NM_004519.4(KCNQ3):c.1564G>A (p.Val522Ile) SNV Conflicting interpretations of pathogenicity 193878 rs143683496 GRCh37: 8:133152327-133152327
GRCh38: 8:132140080-132140080
14 KCNQ3 NM_004519.4(KCNQ3):c.170T>C (p.Leu57Pro) SNV Uncertain significance 361881 rs886062692 GRCh37: 8:133492610-133492610
GRCh38: 8:132480363-132480363
15 KCNQ3 NM_004519.4(KCNQ3):c.860C>T (p.Pro287Leu) SNV Uncertain significance 405220 rs531151809 GRCh37: 8:133187773-133187773
GRCh38: 8:132175526-132175526
16 KCNQ3 NM_004519.4(KCNQ3):c.2338C>T (p.Arg780Cys) SNV Uncertain significance 405218 rs138852641 GRCh37: 8:133141790-133141790
GRCh38: 8:132129543-132129543
17 KCNQ3 NM_004519.4(KCNQ3):c.1775C>G (p.Thr592Ser) SNV Uncertain significance 471218 rs556421495 GRCh37: 8:133146561-133146561
GRCh38: 8:132134314-132134314
18 KCNQ3 NM_004519.4(KCNQ3):c.1471G>A (p.Gly491Arg) SNV Uncertain significance 279818 rs201552546 GRCh37: 8:133152420-133152420
GRCh38: 8:132140173-132140173
19 KCNQ3 NM_004519.4(KCNQ3):c.2386A>G (p.Asn796Asp) SNV Uncertain significance 644399 rs1289523204 GRCh37: 8:133141742-133141742
GRCh38: 8:132129495-132129495
20 KCNQ3 NM_004519.4(KCNQ3):c.115G>C (p.Glu39Gln) SNV Uncertain significance 645492 rs1448580874 GRCh37: 8:133492665-133492665
GRCh38: 8:132480418-132480418
21 KCNQ3 NM_004519.4(KCNQ3):c.1844A>G (p.Asp615Gly) SNV Uncertain significance 205977 GRCh37: 8:133144467-133144467
GRCh38: 8:132132220-132132220
22 KCNQ3 NM_004519.4(KCNQ3):c.1519C>G (p.Pro507Ala) SNV Uncertain significance 839066 GRCh37: 8:133152372-133152372
GRCh38: 8:132140125-132140125
23 KCNQ3 NM_004519.4(KCNQ3):c.490A>G (p.Ile164Val) SNV Uncertain significance 839067 GRCh37: 8:133196602-133196602
GRCh38: 8:132184355-132184355
24 KCNQ3 NM_004519.4(KCNQ3):c.32C>T (p.Ala11Val) SNV Uncertain significance 840823 GRCh37: 8:133492748-133492748
GRCh38: 8:132480501-132480501
25 KCNQ3 NM_004519.4(KCNQ3):c.788C>T (p.Thr263Met) SNV Uncertain significance 498225 rs1479652323 GRCh37: 8:133187845-133187845
GRCh38: 8:132175598-132175598
26 KCNQ3 NM_004519.4(KCNQ3):c.2248A>G (p.Ile750Val) SNV Uncertain significance 852113 GRCh37: 8:133141880-133141880
GRCh38: 8:132129633-132129633
27 KCNQ3 NM_004519.4(KCNQ3):c.56_73del (p.Gly19_Gly24del) Deletion Uncertain significance 206000 rs774616642 GRCh37: 8:133492707-133492724
GRCh38: 8:132480460-132480477
28 KCNQ3 NM_004519.4(KCNQ3):c.2382G>A (p.Ser794=) SNV Uncertain significance 857084 GRCh37: 8:133141746-133141746
GRCh38: 8:132129499-132129499
29 KCNQ3 NM_004519.4(KCNQ3):c.970C>G (p.Pro324Ala) SNV Uncertain significance 941355 GRCh37: 8:133186560-133186560
GRCh38: 8:132174313-132174313
30 KCNQ3 NM_004519.4(KCNQ3):c.178G>A (p.Gly60Arg) SNV Uncertain significance 941767 GRCh37: 8:133492602-133492602
GRCh38: 8:132480355-132480355
31 KCNQ3 NM_004519.4(KCNQ3):c.2078dup (p.Glu694fs) Duplication Uncertain significance 945911 GRCh37: 8:133142049-133142050
GRCh38: 8:132129802-132129803
32 KCNQ3 NM_004519.4(KCNQ3):c.173G>A (p.Gly58Glu) SNV Uncertain significance 958186 GRCh37: 8:133492607-133492607
GRCh38: 8:132480360-132480360
33 KCNQ3 NM_004519.4(KCNQ3):c.1207G>A (p.Glu403Lys) SNV Uncertain significance 70789 rs142445773 GRCh37: 8:133182609-133182609
GRCh38: 8:132170362-132170362
34 KCNQ3 NM_004519.4(KCNQ3):c.1543C>G (p.Leu515Val) SNV Uncertain significance 288032 rs368013249 GRCh37: 8:133152348-133152348
GRCh38: 8:132140101-132140101
35 KCNQ3 NM_004519.4(KCNQ3):c.1582C>T (p.Arg528Cys) SNV Uncertain significance 1034514 GRCh37: 8:133150250-133150250
GRCh38: 8:132138003-132138003
36 KCNQ3 NM_004519.4(KCNQ3):c.508G>A (p.Glu170Lys) SNV Uncertain significance 1036952 GRCh37: 8:133196584-133196584
GRCh38: 8:132184337-132184337
37 KCNQ3 NM_004519.4(KCNQ3):c.566G>A (p.Gly189Asp) SNV Uncertain significance 1037603 GRCh37: 8:133196526-133196526
GRCh38: 8:132184279-132184279
38 KCNQ3 NM_004519.4(KCNQ3):c.706C>T (p.Arg236Cys) SNV Uncertain significance 1038319 GRCh37: 8:133192475-133192475
GRCh38: 8:132180228-132180228
39 KCNQ3 NM_004519.4(KCNQ3):c.1552G>A (p.Ala518Thr) SNV Uncertain significance 447643 rs745463637 GRCh37: 8:133152339-133152339
GRCh38: 8:132140092-132140092
40 KCNQ3 NM_004519.4(KCNQ3):c.1800-9T>G SNV Uncertain significance 1039724 GRCh37: 8:133144520-133144520
GRCh38: 8:132132273-132132273
41 KCNQ3 NM_004519.4(KCNQ3):c.1972T>A (p.Tyr658Asn) SNV Uncertain significance 1040197 GRCh37: 8:133142156-133142156
GRCh38: 8:132129909-132129909
42 KCNQ3 NM_004519.4(KCNQ3):c.116A>G (p.Glu39Gly) SNV Uncertain significance 1040473 GRCh37: 8:133492664-133492664
GRCh38: 8:132480417-132480417
43 KCNQ3 NM_004519.4(KCNQ3):c.404G>T (p.Gly135Val) SNV Uncertain significance 1040583 GRCh37: 8:133198411-133198411
GRCh38: 8:132186164-132186164
44 KCNQ3 NM_004519.4(KCNQ3):c.413T>C (p.Ile138Thr) SNV Uncertain significance 1042285 GRCh37: 8:133198402-133198402
GRCh38: 8:132186155-132186155
45 KCNQ3 NM_004519.4(KCNQ3):c.1418G>A (p.Arg473His) SNV Uncertain significance 1042515 GRCh37: 8:133153423-133153423
GRCh38: 8:132141176-132141176
46 KCNQ3 NM_004519.4(KCNQ3):c.1043C>T (p.Ala348Val) SNV Uncertain significance 205967 rs796052679 GRCh37: 8:133186487-133186487
GRCh38: 8:132174240-132174240
47 KCNQ3 NM_004519.4(KCNQ3):c.1583_1585dup (p.Arg528dup) Duplication Uncertain significance 1043542 GRCh37: 8:133150246-133150247
GRCh38: 8:132137999-132138000
48 KCNQ3 NM_004519.4(KCNQ3):c.63_71del (p.Gly22_Gly24del) Deletion Uncertain significance 1043756 GRCh37: 8:133492709-133492717
GRCh38: 8:132480462-132480470
49 KCNQ3 NM_004519.4(KCNQ3):c.114C>G (p.Asp38Glu) SNV Uncertain significance 1045214 GRCh37: 8:133492666-133492666
GRCh38: 8:132480419-132480419
50 KCNQ3 NM_004519.4(KCNQ3):c.2086C>A (p.Pro696Thr) SNV Uncertain significance 810313 rs1055327554 GRCh37: 8:133142042-133142042
GRCh38: 8:132129795-132129795

Expression for Benign Neonatal Seizures

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

Pathways for Benign Neonatal Seizures

Pathways related to Benign Neonatal Seizures according to KEGG:

36
# Name Kegg Source Accession
1 Cholinergic synapse hsa04725

Pathways related to Benign Neonatal Seizures according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.64 SCN1A KCNQ5 KCNQ4 KCNQ3 KCNQ2 KCNQ1
2 12.41 STXBP1 SCN2A SCN1B SCN1A KCNQ2
3
Show member pathways
12.29 STXBP1 KCNQ5 KCNQ4 KCNQ3 KCNQ2 KCNQ1
4 12.12 KCNQ5 KCNQ4 KCNQ3 KCNQ2 KCNQ1 KCNB1
5 12.01 KCNQ1 GABRA1 CHRNB2 CHRNA4
6
Show member pathways
11.9 SCN2A SCN1B SCN1A KCNQ3 KCNQ2
7
Show member pathways
11.73 KCNQ5 KCNQ4 KCNQ3 KCNQ2 KCNQ1 KCNB1
8
Show member pathways
11.61 SCN2A SCN1B SCN1A KCNQ1
9
Show member pathways
11.59 CHRNB2 CHRNA4 CHRNA2
10 11.48 KCNQ5 KCNQ4 KCNQ3 KCNQ2 KCNQ1
11 11.23 GABRA1 CHRNB2 CHRNA4
12 11.13 SCN2A SCN1B SCN1A KCNQ3 KCNQ2

GO Terms for Benign Neonatal Seizures

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.48 STXBP1 SCN2A SCN1B SCN1A PCDH19 KCNQ5
2 integral component of membrane GO:0016021 10.34 SCN2A SCN1B SCN1A PCDH19 KCNQ5 KCNQ4
3 plasma membrane GO:0005886 10.25 STXBP1 SCN2A SCN1B SCN1A PCDH19 KCNQ5
4 cell junction GO:0030054 10.1 KCNB1 KCNA2 KCNA1 GABRA1 CHRNB2 CHRNA4
5 neuron projection GO:0043005 10.01 KCNB1 KCNA2 GABRA1 CHRNB2 CHRNA4 CHRNA2
6 synapse GO:0045202 9.96 KCNQ3 KCNQ2 KCNB1 KCNA2 KCNA1 GABRA1
7 integral component of plasma membrane GO:0005887 9.93 SCN2A SCN1B PCDH19 KCNQ5 KCNQ3 KCNQ2
8 glutamatergic synapse GO:0098978 9.92 STXBP1 SCN2A KCNA1 CDKL5
9 postsynaptic membrane GO:0045211 9.92 KCNB1 GABRA1 CHRNB2 CHRNA4 CHRNA2
10 axon GO:0030424 9.91 STXBP1 SCN2A SCN1B SCN1A KCNB1 KCNA2
11 perikaryon GO:0043204 9.87 SCN1B KCNB1 KCNA2 KCNA1
12 intercalated disc GO:0014704 9.76 SCN2A SCN1B SCN1A
13 integral component of presynaptic membrane GO:0099056 9.76 SCN2A KCNA2 KCNA1 CHRNB2
14 T-tubule GO:0030315 9.75 SCN2A SCN1B SCN1A
15 axon initial segment GO:0043194 9.69 SCN1A KCNQ3 KCNQ2
16 voltage-gated sodium channel complex GO:0001518 9.67 SCN2A SCN1B SCN1A
17 acetylcholine-gated channel complex GO:0005892 9.65 CHRNB2 CHRNA4 CHRNA2
18 calyx of Held GO:0044305 9.61 KCNA2 KCNA1
19 paranode region of axon GO:0033270 9.61 SCN2A KCNA1
20 juxtaparanode region of axon GO:0044224 9.6 KCNA2 KCNA1
21 potassium channel complex GO:0034705 9.59 KCNA2 KCNA1
22 sodium channel complex GO:0034706 9.58 SCN2A SCN1B SCN1A
23 node of Ranvier GO:0033268 9.35 SCN2A SCN1B SCN1A KCNQ3 KCNQ2
24 voltage-gated potassium channel complex GO:0008076 9.23 KCNQ5 KCNQ4 KCNQ3 KCNQ2 KCNQ1 KCNB1

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.07 SCN2A SCN1A KCNQ5 KCNQ4 KCNQ3 KCNQ2
2 chemical synaptic transmission GO:0007268 10 KCNQ3 KCNQ2 KCNA1 GABRA1 CHRNB2 CHRNA4
3 potassium ion transport GO:0006813 9.92 KCNQ5 KCNQ4 KCNQ3 KCNQ2 KCNQ1 KCNB1
4 ion transmembrane transport GO:0034220 9.9 SCN2A SCN1B SCN1A KCNQ3 KCNQ2 KCNB1
5 regulation of membrane potential GO:0042391 9.88 SCN1A KCNA1 GABRA1 CHRNB2 CHRNA4 CHRNA2
6 potassium ion transmembrane transport GO:0071805 9.86 KCNQ5 KCNQ4 KCNQ3 KCNQ2 KCNQ1 KCNB1
7 regulation of postsynaptic membrane potential GO:0060078 9.83 KCNA1 GABRA1 CHRNB2 CHRNA4 CHRNA2
8 sodium ion transport GO:0006814 9.82 SCN2A SCN1B SCN1A
9 protein homooligomerization GO:0051260 9.8 KCNB1 KCNA2 KCNA1
10 nervous system process GO:0050877 9.8 GABRA1 CHRNB2 CHRNA4 CHRNA2
11 sodium ion transmembrane transport GO:0035725 9.79 SCN2A SCN1B SCN1A
12 neuronal action potential GO:0019228 9.78 SCN2A SCN1A KCNA2 KCNA1
13 excitatory postsynaptic potential GO:0060079 9.77 CHRNB2 CHRNA4 CHRNA2
14 sensory perception of pain GO:0019233 9.75 KCNA2 CHRNB2 CHRNA4
15 response to nicotine GO:0035094 9.73 CHRNB2 CHRNA4 CHRNA2
16 regulation of dopamine secretion GO:0014059 9.72 KCNA2 CHRNB2 CHRNA4
17 synaptic transmission, cholinergic GO:0007271 9.71 CHRNB2 CHRNA4 CHRNA2
18 membrane depolarization GO:0051899 9.7 SCN1B CHRNB2 CHRNA4
19 regulation of ion transmembrane transport GO:0034765 9.7 SCN2A SCN1B SCN1A KCNQ5 KCNQ4 KCNQ3
20 action potential GO:0001508 9.69 SCN1A KCNB1 CHRNA4
21 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.64 SCN1B KCNQ1
22 positive regulation of calcium ion-dependent exocytosis GO:0045956 9.63 STXBP1 KCNB1
23 membrane depolarization during action potential GO:0086010 9.62 SCN2A SCN1A
24 cardiac muscle cell action potential involved in contraction GO:0086002 9.62 SCN1B SCN1A
25 potassium ion export across plasma membrane GO:0097623 9.61 KCNQ1 KCNA2
26 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.6 SCN1A KCNA1
27 neuronal action potential propagation GO:0019227 9.58 SCN1B SCN1A
28 behavioral response to nicotine GO:0035095 9.57 CHRNB2 CHRNA4
29 ion transport GO:0006811 9.5 SCN2A SCN1B SCN1A KCNQ5 KCNQ4 KCNQ3

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.92 KCNQ5 KCNQ4 KCNQ3 KCNQ2 KCNQ1 KCNB1
2 voltage-gated potassium channel activity GO:0005249 9.86 KCNQ5 KCNQ4 KCNQ3 KCNQ2 KCNQ1 KCNB1
3 calmodulin binding GO:0005516 9.85 KCNQ5 KCNQ4 KCNQ3 KCNQ2 KCNQ1
4 transmembrane signaling receptor activity GO:0004888 9.84 GABRA1 CHRNB2 CHRNA4 CHRNA2
5 neurotransmitter receptor activity GO:0030594 9.78 GABRA1 CHRNB2 CHRNA4 CHRNA2
6 delayed rectifier potassium channel activity GO:0005251 9.76 KCNQ5 KCNQ4 KCNQ3 KCNQ2 KCNQ1 KCNB1
7 ion channel binding GO:0044325 9.73 SCN1B KCNQ1 KCNB1
8 voltage-gated ion channel activity GO:0005244 9.7 SCN2A SCN1B SCN1A KCNQ5 KCNQ4 KCNQ3
9 sodium channel activity GO:0005272 9.69 SCN2A SCN1B SCN1A
10 voltage-gated sodium channel activity GO:0005248 9.67 SCN2A SCN1B SCN1A
11 extracellular ligand-gated ion channel activity GO:0005230 9.67 GABRA1 CHRNB2 CHRNA4 CHRNA2
12 acetylcholine-gated cation-selective channel activity GO:0022848 9.61 CHRNB2 CHRNA4 CHRNA2
13 acetylcholine receptor activity GO:0015464 9.58 CHRNB2 CHRNA4 CHRNA2
14 acetylcholine binding GO:0042166 9.55 CHRNB2 CHRNA4
15 outward rectifier potassium channel activity GO:0015271 9.52 KCNQ1 KCNA2
16 ion channel activity GO:0005216 9.47 SCN2A SCN1A KCNQ5 KCNQ4 KCNQ3 KCNQ2

Sources for Benign Neonatal Seizures

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
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