MCID: SZR008
MIFTS: 28

Seizures, Benign Neonatal, 1 malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Aliases & Classifications for Seizures, Benign Neonatal, 1

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Seizures, Benign Neonatal, 1, Aliases & Descriptions:

Name: Seizures, Benign Neonatal, 1 45
Seizures, Benign Familial Neonatal, 1 45 22
 
Myokymia 45 10


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


External Ids:

OMIM45 121200

Summaries for Seizures, Benign Neonatal, 1

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OMIM:45 Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in... (121200) more...

MalaCards based summary: Seizures, Benign Neonatal, 1, also known as seizures, benign familial neonatal, 1, is related to ataxia and episodic ataxia, and has symptoms including autosomal recessive inheritance, global developmental delay and motor delay. An important gene associated with Seizures, Benign Neonatal, 1 is KCNQ2 (potassium voltage-gated channel, KQT-like subfamily, member 2).

Related Diseases for Seizures, Benign Neonatal, 1

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Diseases in the Benign Neonatal Seizures family:

Seizures, Benign Neonatal, Type 2 seizures, benign neonatal, 1
Seizures Benign Familial Neonatal Recessive Form

Diseases related to Seizures, Benign Neonatal, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1ataxia10.5
2episodic ataxia10.4
3dyskinesia, familial, with facial myokymia10.4
4episodic ataxia/myokymia syndrome10.4
5myokymia with neonatal epilepsy10.3
6isolated facial myokymia10.3
7tremor10.2
8neuromyotonia and axonal neuropathy, autosomal recessive10.2
9neuronitis10.2
10neuropathy10.2
11myokymia 1 with or without hypomagnesemia10.2
12hemifacial spasm10.2
13myotonia10.2
14episodic ataxia, type 310.1
15nasopharyngeal carcinoma10.1
16migraine10.1
17motor neuron disease10.1
18lateral sclerosis10.1
19nasopharyngitis10.1
20dystonia10.1
21laryngitis10.1
22polyradiculoneuropathy10.1
23ptosis10.1
24spinocerebellar ataxia10.1
25thymoma10.1
26medulloblastoma9.9
27spinocerebellar ataxia 259.9
28muscle hypertrophy9.9
29breast cancer9.9
30spinocerebellar ataxia 129.9
31spinocerebellar ataxia 59.9
32spinocerebellar ataxia 149.9
33paroxysmal nonkinesigenic dyskinesia9.9
34multiple system atrophy9.9
35leprosy9.9
36cerebellar ataxia9.9
37neurodegeneration with optic atrophy, childhood onset9.9
38arteriovenous fistula9.9
39charcot-marie-tooth disease9.9
40hepatitis9.9
41hepatitis b9.9
42hereditary ataxia9.9
43hydrocephalus9.9
44retinitis pigmentosa9.9
45spinal stenosis9.9
46eosinophilia-myalgia syndrome9.9
47hypoglycemia9.9
48chronic inflammatory demyelinating polyradiculoneuropathy9.9
49mucoepidermoid carcinoma9.9
50bell's palsy9.9

Graphical network of the top 20 diseases related to Seizures, Benign Neonatal, 1:



Diseases related to seizures, benign neonatal, 1

Symptoms for Seizures, Benign Neonatal, 1

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Symptoms by clinical synopsis from OMIM:

121200

Clinical features from OMIM:

121200

HPO human phenotypes related to Seizures, Benign Neonatal, 1:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance rare (5%) HP:0000007
2 global developmental delay rare (5%) HP:0001263
3 motor delay rare (5%) HP:0001270
4 autosomal dominant inheritance HP:0000006
5 heterogeneous HP:0001425
6 generalized tonic-clonic seizures HP:0002069
7 focal clonic seizures HP:0002266
8 febrile seizures HP:0002373
9 myokymia HP:0002411
10 neonatal onset HP:0003623
11 phenotypic variability HP:0003812

Drugs & Therapeutics for Seizures, Benign Neonatal, 1

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Drug clinical trials:

Search ClinicalTrials for Seizures, Benign Neonatal, 1

Search NIH Clinical Center for Seizures, Benign Neonatal, 1

Genetic Tests for Seizures, Benign Neonatal, 1

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Genetic tests related to Seizures, Benign Neonatal, 1:

id Genetic test Affiliating Genes
1 Benign Familial Neonatal Seizures 122

Anatomical Context for Seizures, Benign Neonatal, 1

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Animal Models for Seizures, Benign Neonatal, 1 or affiliated genes

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Publications for Seizures, Benign Neonatal, 1

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Variations for Seizures, Benign Neonatal, 1

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UniProtKB/Swiss-Prot genetic disease variations for Seizures, Benign Neonatal, 1:

62
id Symbol AA change Variation ID SNP ID
1KCNQ2p.Arg214TrpVAR_010929rs28939684
2KCNQ2p.Tyr284CysVAR_010930rs28939683
3KCNQ2p.Ala306ThrVAR_010931
4KCNQ2p.Arg207TrpVAR_026987
5KCNQ2p.Met208ValVAR_026988
6KCNQ2p.His228GlnVAR_026989
7KCNQ2p.Leu243PheVAR_026990
8KCNQ2p.Arg333GlnVAR_026992
9KCNQ2p.Lys554AsnVAR_026993

Clinvar genetic disease variations for Seizures, Benign Neonatal, 1:

6 (show all 71)
id Gene Variation Type Significance SNP ID Assembly Location
1KCNQ2NM_172107.2(KCNQ2): c.1016T> G (p.Leu339Arg)single nucleotide variantPathogenicrs118192217GRCh37Chr 20, 62069985: 62069985
2KCNQ2NM_172107.2(KCNQ2): c.1057C> G (p.Arg353Gly)single nucleotide variantPathogenicrs118192218GRCh37Chr 20, 62065223: 62065223
3KCNQ2NM_172107.2(KCNQ2): c.1076C> A (p.Thr359Lys)single nucleotide variantPathogenicrs118192219GRCh37Chr 20, 62065204: 62065204
4KCNQ2NM_172109.1(KCNQ2): c.1119G> A (p.Arg373=)single nucleotide variantPathogenicrs397507449GRCh37Chr 20, 62065161: 62065161
5KCNQ2NM_172107.2(KCNQ2): c.1192_1193delAA (p.Lys398Glufs)deletionPathogenicrs118192222GRCh37Chr 20, 62059744: 62059745
6KCNQ2NM_172107.2(KCNQ2): c.1217+2T> Gsingle nucleotide variantPathogenicrs118192223GRCh37Chr 20, 62059718: 62059718
7KCNQ2NM_172107.2(KCNQ2): c.1288C> T (p.Pro430Ser)single nucleotide variantPathogenicrs118192224GRCh37Chr 20, 62050985: 62050985
8KCNQ2NM_172107.2(KCNQ2): c.1342C> T (p.Arg448Ter)single nucleotide variantPathogenicrs118192226GRCh37Chr 20, 62046439: 62046439
9KCNQ2NM_172107.2(KCNQ2): c.1525+1G> Asingle nucleotide variantPathogenicrs118192228GRCh37Chr 20, 62046255: 62046255
10KCNQ2NM_172107.2(KCNQ2): c.1569_1582delCCCCTGCGAGTTTG (p.Pro524Aspfs)deletionPathogenicrs118192230GRCh37Chr 20, 62045490: 62045503
11KCNQ2NM_172107.2(KCNQ2): c.1632-1G> Tsingle nucleotide variantPathogenicrs118192233GRCh37Chr 20, 62044935: 62044935
12KCNQ2NM_172107.2(KCNQ2): c.1658G> A (p.Arg553Gln)single nucleotide variantPathogenicrs118192234GRCh37Chr 20, 62044908: 62044908
13KCNQ2NM_172107.2(KCNQ2): c.1741C> T (p.Arg581Ter)single nucleotide variantPathogenicrs118192236GRCh37Chr 20, 62044825: 62044825
14KCNQ2NM_172107.2(KCNQ2): c.1742G> A (p.Arg581Gln)single nucleotide variantPathogenicrs118192235GRCh37Chr 20, 62044824: 62044824
15KCNQ2NM_172107.2(KCNQ2): c.1764A> T (p.Arg588Ser)single nucleotide variantPathogenicrs118192237GRCh37Chr 20, 62039889: 62039889
16KCNQ2NM_172107.2(KCNQ2): c.1910T> G (p.Leu637Arg)single nucleotide variantPathogenicrs118192240GRCh37Chr 20, 62038706: 62038706
17KCNQ2NM_172107.2(KCNQ2): c.1930delT (p.Tyr644Thrfs)deletionPathogenicrs118192241GRCh37Chr 20, 62038686: 62038686
18KCNQ2NM_172107.2(KCNQ2): c.1956delG (p.Thr653Glnfs)deletionPathogenicrs118192242GRCh37Chr 20, 62038660: 62038660
19KCNQ2NM_172107.2(KCNQ2): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs118192185GRCh37Chr 20, 62103816: 62103816
20KCNQ2NM_172107.2(KCNQ2): c.2015delG (p.Ser672Thrfs)deletionPathogenicrs118192243GRCh37Chr 20, 62038601: 62038601
21KCNQ2NM_172107.2(KCNQ2): c.204dupC (p.Lys69Glnfs)duplicationPathogenicrs118192188GRCh37Chr 20, 62103612: 62103613
22KCNQ2NM_172107.2(KCNQ2): c.232delC (p.Gln78Argfs)deletionPathogenicrs118192189GRCh37Chr 20, 62103585: 62103585
23KCNQ2NM_172107.2(KCNQ2): c.2597delG (p.Gly866Alafs)deletionPathogenicrs118192245GRCh37Chr 20, 62038019: 62038019
24KCNQ2NM_172107.2(KCNQ2): c.2604_2605insGGGCC (p.Arg871Glyfs)insertionPathogenicrs118192246GRCh37Chr 20, 62038011: 62038012
25KCNQ2NM_172107.2(KCNQ2): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs118192186GRCh37Chr 20, 62103815: 62103815
26KCNQ2NM_172107.2(KCNQ2): c.314_316delCCT (p.Ser105del)deletionPathogenicrs118192191GRCh37Chr 20, 62078171: 62078173
27KCNQ2NM_172107.2(KCNQ2): c.346_348delAAG (p.Lys116del)deletionPathogenicrs118192192GRCh37Chr 20, 62078139: 62078141
28KCNQ2NM_172107.2(KCNQ2): c.356A> G (p.Glu119Gly)single nucleotide variantPathogenicrs118192193GRCh37Chr 20, 62078131: 62078131
29KCNQ2NM_172107.2(KCNQ2): c.365C> T (p.Ser122Leu)single nucleotide variantPathogenicrs118192194GRCh37Chr 20, 62078122: 62078122
30KCNQ2NM_172107.2(KCNQ2): c.387+1G> Tsingle nucleotide variantPathogenicrs118192195GRCh37Chr 20, 62078099: 62078099
31KCNQ2NM_172107.2(KCNQ2): c.388-2_388delAGGdeletionPathogenicrs118192196GRCh37Chr 20, 62076717: 62076719
32KCNQ2NM_172107.2(KCNQ2): c.584_593delCTGCGCTCCGinsA (p.Ser195Ter)indelPathogenicrs118192197GRCh37Chr 20, 62076109: 62076118
33KCNQ2NM_172107.2(KCNQ2): c.585dupT (p.Ala196Cysfs)duplicationPathogenicrs118192198GRCh37Chr 20, 62076116: 62076117
34KCNQ2NM_172107.2(KCNQ2): c.587C> T (p.Ala196Val)single nucleotide variantPathogenicrs118192199GRCh37Chr 20, 62076115: 62076115
35KCNQ2NM_172107.2(KCNQ2): c.622A> G (p.Met208Val)single nucleotide variantPathogenicrs118192201GRCh37Chr 20, 62076080: 62076080
36KCNQ2NM_172107.2(KCNQ2): c.635A> G (p.Asp212Gly)single nucleotide variantPathogenicrs118192202GRCh37Chr 20, 62076067: 62076067
37KCNQ2NM_172107.2(KCNQ2): c.637C> T (p.Arg213Trp)single nucleotide variantPathogenicrs118192203GRCh37Chr 20, 62076065: 62076065
38KCNQ2NM_172107.2(KCNQ2): c.63_66delGGTG (p.Val22Alafs)deletionPathogenicrs118192187GRCh37Chr 20, 62103751: 62103754
39KCNQ2NM_172107.2(KCNQ2): c.684C> A (p.His228Gln)single nucleotide variantPathogenicrs118192204GRCh37Chr 20, 62076018: 62076018
40KCNQ2NM_172107.2(KCNQ2): c.727C> T (p.Leu243Phe)single nucleotide variantPathogenicrs118192205GRCh37Chr 20, 62073848: 62073848
41KCNQ2NM_172107.2(KCNQ2): c.740C> A (p.Ser247Ter)single nucleotide variantPathogenicrs74315392GRCh37Chr 20, 62073835: 62073835
42KCNQ2NM_172107.2(KCNQ2): c.749T> G (p.Val250Gly)single nucleotide variantPathogenicrs118192206GRCh37Chr 20, 62073826: 62073826
43KCNQ2NM_172107.2(KCNQ2): c.773A> G (p.Asn258Ser)single nucleotide variantPathogenicrs118192207GRCh37Chr 20, 62073802: 62073802
44KCNQ2NM_172107.2(KCNQ2): c.807G> A (p.Trp269Ter)single nucleotide variantPathogenicrs118192208GRCh37Chr 20, 62073768: 62073768
45KCNQ2NM_172107.2(KCNQ2): c.812G> T (p.Gly271Val)single nucleotide variantPathogenicrs118192209GRCh37Chr 20, 62073763: 62073763
46KCNQ2NM_172107.2(KCNQ2): c.847_848insGT (p.Lys283Serfs)insertionPathogenicrs118192210GRCh37Chr 20, 62071030: 62071031
47KCNQ2NM_172107.2(KCNQ2): c.881C> G (p.Ala294Gly)single nucleotide variantPathogenicrs118192211GRCh37Chr 20, 62070997: 62070997
48KCNQ2NM_172107.2(KCNQ2): c.910_912delTTC (p.Phe305del)deletionPathogenicrs118192212GRCh37Chr 20, 62070966: 62070968
49KCNQ2NM_172107.2(KCNQ2): c.939dupG (p.Ser314Valfs)duplicationPathogenicrs118192213GRCh37Chr 20, 62070061: 62070062
50KCNQ2NM_172107.2(KCNQ2): c.967C> T (p.Gln323Ter)single nucleotide variantPathogenicrs118192214GRCh37Chr 20, 62070034: 62070034
51KCNQ2NM_172107.2(KCNQ2): c.997C> T (p.Arg333Trp)single nucleotide variantPathogenicrs118192215GRCh37Chr 20, 62070004: 62070004
52KCNQ2NM_172107.2(KCNQ2): c.998G> A (p.Arg333Gln)single nucleotide variantPathogenicrs118192216GRCh37Chr 20, 62070003: 62070003
53KCNQ2NM_172107.2(KCNQ2): c.296+1G> Asingle nucleotide variantPathogenicrs118192190GRCh37Chr 20, 62103520: 62103520
54KCNQ2NM_172107.2(KCNQ2): c.1302-1G> Csingle nucleotide variantPathogenicrs118192225GRCh37Chr 20, 62046480: 62046480
55KCNQ2NM_172107.2(KCNQ2): c.1764-2A> Gsingle nucleotide variantPathogenicrs118192238GRCh37Chr 20, 62039891: 62039891
56KCNQ2NM_172107.2(KCNQ2): c.1764-6C> Asingle nucleotide variantPathogenicrs118192239GRCh37Chr 20, 62039895: 62039895
57KCNQ2NM_172107.2(KCNQ2): c.1148+2T> Gsingle nucleotide variantPathogenicrs118192221GRCh37Chr 20, 62062691: 62062691
58KCNQ2NP_742105.1: p.Lys554Asnundetermined variantPathogenic
59KCNQ2NM_172107.2: c.(1228_1230)del12deletionPathogenic
60KCNQ2NC_000020.10: g.62015806_62064474del48669deletionPathogenicGRCh37Chr 20, 62015806: 62064474
61KCNQ2NM_172107.2(KCNQ2): c.851A> G (p.Tyr284Cys)single nucleotide variantPathogenicrs28939683GRCh37Chr 20, 62071027: 62071027
62KCNQ2NM_172107.2(KCNQ2): c.916G> A (p.Ala306Thr)single nucleotide variantPathogenicrs74315390GRCh37Chr 20, 62070962: 62070962
63KCNQ2NM_172107.2(KCNQ2): c.1684_1685insGCCCT (p.Tyr562Cysfs)insertionPathogenicrs118192231GRCh37Chr 20, 62044881: 62044882
64KCNQ2KCNQ2, 1-BP DEL, 1846TdeletionPathogenic
65KCNQ2NM_172107.2(KCNQ2): c.640C> T (p.Arg214Trp)single nucleotide variantPathogenicrs28939684GRCh37Chr 20, 62076062: 62076062
66KCNQ2NM_172107.2(KCNQ2): c.619C> T (p.Arg207Trp)single nucleotide variantPathogenicrs74315391GRCh37Chr 20, 62076083: 62076083
67KCNQ2KCNQ2, 10-BP DEL/1-BP INS, NT761indelPathogenic
68KCNQ2NM_172107.2(KCNQ2): c.1662G> T (p.Lys554Asn)single nucleotide variantPathogenicrs267607198GRCh37Chr 20, 62044904: 62044904
69KCNQ2NM_172107.2(KCNQ2): c.740C> G (p.Ser247Trp)single nucleotide variantPathogenicrs74315392GRCh37Chr 20, 62073835: 62073835
70KCNQ2NM_172107.2(KCNQ2): c.2127delT (p.Val710Serfs)deletionPathogenicrs118192244GRCh37Chr 20, 62038489: 62038489
71KCNQ2NM_172107.2(KCNQ2): c.620G> A (p.Arg207Gln)single nucleotide variantPathogenicrs118192200GRCh37Chr 20, 62076082: 62076082

Expression for genes affiliated with Seizures, Benign Neonatal, 1

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Search GEO for disease gene expression data for Seizures, Benign Neonatal, 1.

Pathways for genes affiliated with Seizures, Benign Neonatal, 1

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Compounds for genes affiliated with Seizures, Benign Neonatal, 1

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GO Terms for genes affiliated with Seizures, Benign Neonatal, 1

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Products for genes affiliated with Seizures, Benign Neonatal, 1

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Sources for Seizures, Benign Neonatal, 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet