MCID: SZR008
MIFTS: 34

Seizures, Benign Neonatal, 1 malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Seizures, Benign Neonatal, 1

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Aliases & Descriptions for Seizures, Benign Neonatal, 1:

Name: Seizures, Benign Neonatal, 1 49
Seizures, Benign Familial Neonatal 1 67 24
Myokymia with Neonatal Epilepsy 67 65
Myokymia 49 11
Convulsions Benign Familial Neonatal 1 with Myokymia 67
Benign Neonatal Epilepsy 1 and/or Myokymia 67
Benign Neonatal Epilepsy 1 with Myokymia 67
Benign Neonatal Epilepsy Atypical Severe 67
 
Benign Familial Neonatal Convulsions 1 67
Seizures, Benign Familial Neonatal, 1 65
Benign Neonatal Epilepsy 1 67
Bfnc/myokymia Syndrome 67
Myokymia Isolated 67
Bfnc1 67
Bfns1 67
Ebn1 67

Characteristics:

HPO:

61
seizures, benign neonatal, 1:
Inheritance: autosomal recessive inheritance, heterogeneous, autosomal dominant inheritance
Onset and clinical course: phenotypic variability, neonatal onset


Classifications:



External Ids:

OMIM49 121200
UMLS65 C2931109, C3149074

Summaries for Seizures, Benign Neonatal, 1

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UniProtKB/Swiss-Prot:67 Seizures, benign familial neonatal 1: A disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. Some rare cases manifest an atypical severe phenotype associated with epileptic encephalopathy and psychomotor retardation. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset. In some patients, neonatal convulsions are followed later in life by myokymia, a benign condition characterized by spontaneous involuntary contractions of skeletal muscles fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Some patients may have isolated myokymia.

MalaCards based summary: Seizures, Benign Neonatal, 1, also known as seizures, benign familial neonatal 1, is related to episodic ataxia/myokymia syndrome and dyskinesia, familial, with facial myokymia, and has symptoms including motor delay, global developmental delay and myokymia. An important gene associated with Seizures, Benign Neonatal, 1 is KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2). Affiliated tissues include skeletal muscle and skin.

OMIM:49 Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in... (121200) more...

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 190)
idRelated DiseaseScoreTop Affiliating Genes
1episodic ataxia/myokymia syndrome12.6
2dyskinesia, familial, with facial myokymia12.5
3isolated facial myokymia12.4
4myokymia with neonatal epilepsy12.4
5myokymia 1 with or without hypomagnesemia12.3
6adcy5-related dyskinesia12.0
7neuromyotonia and axonal neuropathy, autosomal recessive11.6
8episodic ataxia, type 311.3
9episodic ataxia10.6
10seizures, benign familial infantile, 310.3
11seizures, benign neonatal, type 210.3
12seizures, benign familial infantile, 110.3
13epileptic encephalopathy, early infantile, 710.3
14lung cancer10.3
15leukemia10.3
16breast cancer10.2
17hepatitis10.2
18hiv-110.2
19atherosclerosis10.2
20lymphoma10.2
21melanoma10.2
22endotheliitis10.2
23schizophrenia10.1
24colorectal cancer10.1
25myocardial infarction10.1
26coronary artery disease10.1
27hepatitis c virus10.1
28tendinopathy10.1
29artery disease10.1
30choroiditis10.1
31pure red-cell aplasia10.1
32polyneuropathy10.1
33root caries10.1
34neuroleptic malignant syndrome10.1
35prostatitis10.1
36hepatitis c10.1
37cervicitis10.1
38myositis10.1
39thyroiditis10.1
40psoriasis10.1
41neuroblastoma9.9
42hajdu-cheney syndrome9.9
43dyschromatosis symmetrica hereditaria9.9
44prostate cancer9.9
45perry syndrome9.9
46hepatocellular carcinoma9.9
47asthma9.9
48obesity9.9
49laron dwarfism9.9
50netherton syndrome9.9

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 6)
id Description Frequency HPO Source Accession
1 motor delay rare (5%) HP:0001270
2 global developmental delay rare (5%) HP:0001263
3 myokymia HP:0002411
4 febrile seizures HP:0002373
5 focal clonic seizures HP:0002266
6 generalized tonic-clonic seizures HP:0002069

Drugs & Therapeutics for Seizures, Benign Neonatal, 1

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Inherited Myokymia: A Clinical and Genetic Study of a FamilyRecruitingNCT01250704

Search NIH Clinical Center for Seizures, Benign Neonatal, 1

Genetic Tests for Seizures, Benign Neonatal, 1

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Anatomical Context for Seizures, Benign Neonatal, 1

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MalaCards organs/tissues related to Seizures, Benign Neonatal, 1:

33
Skeletal muscle, Skin

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:

67
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:

5 (show all 75)
id Gene Variation Type Significance SNP ID Assembly Location
1KCNQ2NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr)single nucleotide variantLikely pathogenic, Pathogenicrs794727740GRCh37Chr 20, 62073782: 62073782
2KCNQ2NM_172107.3(KCNQ2): c.1657C> T (p.Arg553Trp)single nucleotide variantPathogenicrs759584387GRCh37Chr 20, 62044909: 62044909
3KCNQ2NM_172107.3(KCNQ2): c.913_915delTTC (p.Phe305del)deletionPathogenicrs118192212GRCh38Chr 20, 63439610: 63439612
4KCNQ2NM_172107.3(KCNQ2): c.1016T> G (p.Leu339Arg)single nucleotide variantPathogenicrs118192217GRCh37Chr 20, 62069985: 62069985
5KCNQ2NM_172107.3(KCNQ2): c.1057C> G (p.Arg353Gly)single nucleotide variantPathogenicrs118192218GRCh37Chr 20, 62065223: 62065223
6KCNQ2NM_172107.3(KCNQ2): c.1076C> A (p.Thr359Lys)single nucleotide variantPathogenicrs118192219GRCh37Chr 20, 62065204: 62065204
7KCNQ2NM_172109.2(KCNQ2): c.1119G> A (p.Arg373=)single nucleotide variantPathogenicrs397507449GRCh37Chr 20, 62065161: 62065161
8KCNQ2NM_172107.3(KCNQ2): c.1192_1193delAA (p.Lys398Glufs)deletionPathogenicrs118192222GRCh37Chr 20, 62059744: 62059745
9KCNQ2NM_172107.3(KCNQ2): c.1217+2T> Gsingle nucleotide variantPathogenicrs118192223GRCh37Chr 20, 62059718: 62059718
10KCNQ2NM_172107.3(KCNQ2): c.1288C> T (p.Pro430Ser)single nucleotide variantPathogenicrs118192224GRCh37Chr 20, 62050985: 62050985
11KCNQ2NM_172107.3(KCNQ2): c.1342C> T (p.Arg448Ter)single nucleotide variantPathogenicrs118192226GRCh37Chr 20, 62046439: 62046439
12KCNQ2NM_172107.3(KCNQ2): c.1525+1G> Asingle nucleotide variantPathogenicrs118192228GRCh37Chr 20, 62046255: 62046255
13KCNQ2NM_172107.3(KCNQ2): c.1569_1582delCCCCTGCGAGTTTG (p.Pro524Aspfs)deletionPathogenicrs118192230GRCh37Chr 20, 62045490: 62045503
14KCNQ2NM_172107.3(KCNQ2): c.1632-1G> Tsingle nucleotide variantPathogenicrs118192233GRCh37Chr 20, 62044935: 62044935
15KCNQ2NM_172107.3(KCNQ2): c.1658G> A (p.Arg553Gln)single nucleotide variantPathogenicrs118192234GRCh37Chr 20, 62044908: 62044908
16KCNQ2NM_172107.3(KCNQ2): c.1741C> T (p.Arg581Ter)single nucleotide variantPathogenicrs118192236GRCh37Chr 20, 62044825: 62044825
17KCNQ2NM_172107.3(KCNQ2): c.1742G> A (p.Arg581Gln)single nucleotide variantPathogenicrs118192235GRCh37Chr 20, 62044824: 62044824
18KCNQ2NM_172107.3(KCNQ2): c.1764A> T (p.Arg588Ser)single nucleotide variantPathogenicrs118192237GRCh37Chr 20, 62039889: 62039889
19KCNQ2NM_172107.3(KCNQ2): c.1910T> G (p.Leu637Arg)single nucleotide variantPathogenicrs118192240GRCh37Chr 20, 62038706: 62038706
20KCNQ2NM_172107.3(KCNQ2): c.1930delT (p.Tyr644Thrfs)deletionPathogenicrs118192241GRCh37Chr 20, 62038686: 62038686
21KCNQ2NM_172107.3(KCNQ2): c.1956delG (p.Thr653Glnfs)deletionPathogenicrs118192242GRCh37Chr 20, 62038660: 62038660
22KCNQ2NM_172107.3(KCNQ2): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs118192185GRCh37Chr 20, 62103816: 62103816
23KCNQ2NM_172107.3(KCNQ2): c.2015delG (p.Ser672Thrfs)deletionPathogenicrs118192243GRCh37Chr 20, 62038601: 62038601
24KCNQ2NM_172107.3(KCNQ2): c.204dupC (p.Lys69Glnfs)duplicationPathogenicrs118192188GRCh37Chr 20, 62103613: 62103613
25KCNQ2NM_172107.3(KCNQ2): c.232delC (p.Gln78Argfs)deletionPathogenicrs118192189GRCh37Chr 20, 62103585: 62103585
26KCNQ2NM_172107.3(KCNQ2): c.2597delG (p.Gly866Alafs)deletionPathogenicrs118192245GRCh37Chr 20, 62038019: 62038019
27KCNQ2NM_172107.3(KCNQ2): c.2605_2609dupGGGCC (p.Arg871Glyfs)duplicationPathogenicrs118192246GRCh37Chr 20, 62038007: 62038011
28KCNQ2NM_172107.3(KCNQ2): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs118192186GRCh37Chr 20, 62103815: 62103815
29KCNQ2NM_172107.2(KCNQ2): c.314_316delCCT (p.Ser105del)deletionPathogenicrs118192191GRCh37Chr 20, 62078171: 62078173
30KCNQ2NM_172107.3(KCNQ2): c.346_348delAAG (p.Lys116del)deletionPathogenicrs118192192GRCh37Chr 20, 62078139: 62078141
31KCNQ2NM_172107.3(KCNQ2): c.356A> G (p.Glu119Gly)single nucleotide variantPathogenicrs118192193GRCh37Chr 20, 62078131: 62078131
32KCNQ2NM_172107.3(KCNQ2): c.365C> T (p.Ser122Leu)single nucleotide variantPathogenicrs118192194GRCh37Chr 20, 62078122: 62078122
33KCNQ2NM_172107.3(KCNQ2): c.387+1G> Tsingle nucleotide variantPathogenicrs118192195GRCh37Chr 20, 62078099: 62078099
34KCNQ2NM_172107.3(KCNQ2): c.388-2_388delAGGdeletionPathogenicrs118192196GRCh37Chr 20, 62076717: 62076719
35KCNQ2NM_172107.3(KCNQ2): c.584_593delCTGCGCTCCGinsA (p.Ser195_Leu532delinsTer)indelPathogenicrs118192197GRCh37Chr 20, 62076109: 62076118
36KCNQ2NM_172107.3(KCNQ2): c.585dupT (p.Ala196Cysfs)duplicationPathogenicrs118192198GRCh37Chr 20, 62076117: 62076117
37KCNQ2NM_172107.3(KCNQ2): c.587C> T (p.Ala196Val)single nucleotide variantPathogenicrs118192199GRCh37Chr 20, 62076115: 62076115
38KCNQ2NM_172107.3(KCNQ2): c.622A> G (p.Met208Val)single nucleotide variantPathogenicrs118192201GRCh37Chr 20, 62076080: 62076080
39KCNQ2NM_172107.3(KCNQ2): c.635A> G (p.Asp212Gly)single nucleotide variantPathogenicrs118192202GRCh37Chr 20, 62076067: 62076067
40KCNQ2NM_172107.3(KCNQ2): c.637C> T (p.Arg213Trp)single nucleotide variantPathogenicrs118192203GRCh37Chr 20, 62076065: 62076065
41KCNQ2NM_172107.3(KCNQ2): c.63_66delGGTG (p.Val22Alafs)deletionPathogenicrs118192187GRCh37Chr 20, 62103751: 62103754
42KCNQ2NM_172107.3(KCNQ2): c.684C> A (p.His228Gln)single nucleotide variantPathogenicrs118192204GRCh37Chr 20, 62076018: 62076018
43KCNQ2NM_172107.3(KCNQ2): c.727C> T (p.Leu243Phe)single nucleotide variantPathogenicrs118192205GRCh37Chr 20, 62073848: 62073848
44KCNQ2NM_172107.3(KCNQ2): c.740C> A (p.Ser247Ter)single nucleotide variantPathogenicrs74315392GRCh37Chr 20, 62073835: 62073835
45KCNQ2NM_172107.3(KCNQ2): c.749T> G (p.Val250Gly)single nucleotide variantPathogenicrs118192206GRCh37Chr 20, 62073826: 62073826
46KCNQ2NM_172107.3(KCNQ2): c.773A> G (p.Asn258Ser)single nucleotide variantPathogenicrs118192207GRCh37Chr 20, 62073802: 62073802
47KCNQ2NM_172107.3(KCNQ2): c.807G> A (p.Trp269Ter)single nucleotide variantPathogenicrs118192208GRCh37Chr 20, 62073768: 62073768
48KCNQ2NM_172107.3(KCNQ2): c.812G> T (p.Gly271Val)single nucleotide variantPathogenicrs118192209GRCh37Chr 20, 62073763: 62073763
49KCNQ2NM_172107.3(KCNQ2): c.847_848insGT (p.Lys283Serfs)insertionPathogenicrs118192210GRCh37Chr 20, 62071030: 62071031
50KCNQ2NM_172107.3(KCNQ2): c.881C> G (p.Ala294Gly)single nucleotide variantPathogenicrs118192211GRCh37Chr 20, 62070997: 62070997
51KCNQ2NM_172107.3(KCNQ2): c.939dupG (p.Ser314Valfs)duplicationPathogenicrs118192213GRCh37Chr 20, 62070062: 62070062
52KCNQ2NM_172107.3(KCNQ2): c.967C> T (p.Gln323Ter)single nucleotide variantPathogenicrs118192214GRCh37Chr 20, 62070034: 62070034
53KCNQ2NM_172107.3(KCNQ2): c.997C> T (p.Arg333Trp)single nucleotide variantPathogenicrs118192215GRCh37Chr 20, 62070004: 62070004
54KCNQ2NM_172107.3(KCNQ2): c.998G> A (p.Arg333Gln)single nucleotide variantPathogenicrs118192216GRCh37Chr 20, 62070003: 62070003
55KCNQ2NM_172107.3(KCNQ2): c.296+1G> Asingle nucleotide variantPathogenicrs118192190GRCh37Chr 20, 62103520: 62103520
56KCNQ2NM_172107.3(KCNQ2): c.1302-1G> Csingle nucleotide variantPathogenicrs118192225GRCh37Chr 20, 62046480: 62046480
57KCNQ2NM_172107.3(KCNQ2): c.1764-2A> Gsingle nucleotide variantPathogenicrs118192238GRCh37Chr 20, 62039891: 62039891
58KCNQ2NM_172107.3(KCNQ2): c.1764-6C> Asingle nucleotide variantPathogenicrs118192239GRCh37Chr 20, 62039895: 62039895
59KCNQ2NM_172107.3(KCNQ2): c.1148+2T> Gsingle nucleotide variantPathogenicrs118192221GRCh37Chr 20, 62062691: 62062691
60KCNQ2NM_172107.3(KCNQ2): c.775G> T (p.Asp259Tyr)single nucleotide variantPathogenicrs777257591GRCh38Chr 20, 63442447: 63442447
61KCNQ2NM_172107.3(KCNQ2): c.319C> T (p.Leu107Phe)single nucleotide variantPathogenicrs864321712GRCh37Chr 20, 62078168: 62078168
62KCNQ2NP_742105.1: p.Lys554Asnundetermined variantPathogenic
63KCNQ2NM_172107.2: c.(1228_1230)del12deletionPathogenic
64KCNQ2NC_000020.10: g.62015806_62064474del48669deletionPathogenicGRCh37Chr 20, 62015806: 62064474
65KCNQ2NM_172107.3(KCNQ2): c.851A> G (p.Tyr284Cys)single nucleotide variantPathogenicrs28939683GRCh37Chr 20, 62071027: 62071027
66KCNQ2NM_172107.3(KCNQ2): c.916G> A (p.Ala306Thr)single nucleotide variantPathogenicrs74315390GRCh37Chr 20, 62070962: 62070962
67KCNQ2NM_172107.3(KCNQ2): c.1684_1685insGCCCT (p.Tyr562Cysfs)insertionPathogenicrs118192231GRCh37Chr 20, 62044881: 62044882
68KCNQ2KCNQ2, 1-BP DEL, 1846TdeletionPathogenic
69KCNQ2NM_172107.3(KCNQ2): c.640C> T (p.Arg214Trp)single nucleotide variantLikely pathogenic, Pathogenicrs28939684GRCh37Chr 20, 62076062: 62076062
70KCNQ2NM_172107.3(KCNQ2): c.619C> T (p.Arg207Trp)single nucleotide variantPathogenicrs74315391GRCh37Chr 20, 62076083: 62076083
71KCNQ2KCNQ2, 10-BP DEL/1-BP INS, NT761indelPathogenic
72KCNQ2NM_172107.3(KCNQ2): c.1662G> T (p.Lys554Asn)single nucleotide variantPathogenicrs267607198GRCh37Chr 20, 62044904: 62044904
73KCNQ2NM_172107.3(KCNQ2): c.740C> G (p.Ser247Trp)single nucleotide variantPathogenicrs74315392GRCh37Chr 20, 62073835: 62073835
74KCNQ2NM_172107.3(KCNQ2): c.2127delT (p.Val710Serfs)deletionPathogenicrs118192244GRCh37Chr 20, 62038489: 62038489
75KCNQ2NM_172107.3(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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GO Terms for genes affiliated with Seizures, Benign Neonatal, 1

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Sources for Seizures, Benign Neonatal, 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet