MCID: SZR008
MIFTS: 37

Seizures, Benign Neonatal, 1 malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Aliases & Classifications for Seizures, Benign Neonatal, 1

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Aliases & Descriptions for Seizures, Benign Neonatal, 1:

Name: Seizures, Benign Neonatal, 1 49
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 67
 
Benign Familial Neonatal Seizures 1 24
Myokymia with Neonatal Epilepsy 67
Benign Neonatal Epilepsy 1 67
Bfnc/myokymia Syndrome 67
Myokymia Isolated 67
Bfns1 67
Bfnc1 67
Ebn1 67


Classifications:



External Ids:

OMIM49 121200

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 myokymia, is related to ataxia and episodic ataxia/myokymia syndrome, 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 Channel, Voltage Gated KQT-Like Subfamily Q, Member 2). Affiliated tissues include skin and skeletal muscle.

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 109)
idRelated DiseaseScoreTop Affiliating Genes
1ataxia10.5
2episodic ataxia/myokymia syndrome10.5
3episodic ataxia10.4
4dyskinesia, familial, with facial myokymia10.4
5myokymia with neonatal epilepsy10.3
6neuromyotonia and axonal neuropathy, autosomal recessive10.3
7isolated facial myokymia10.3
8adcy5-related dyskinesia10.3
9tremor10.2
10neuronitis10.2
11neuropathy10.2
12thymoma10.2
13myokymia 1 with or without hypomagnesemia10.2
14hemifacial spasm10.2
15myotonia10.2
16seizures, benign familial infantile, 310.1
17seizures, benign neonatal, type 210.1
18seizures, benign familial infantile, 110.1
19epileptic encephalopathy, early infantile, 710.1
20episodic ataxia, type 310.1
21nasopharyngeal carcinoma10.1
22motor neuron disease10.1
23lateral sclerosis10.1
24nasopharyngitis10.1
25dystonia10.1
26laryngitis10.1
27peripheral neuropathy10.1
28polyradiculoneuropathy10.1
29ptosis10.1
30spinocerebellar ataxia10.1
31episodic ataxia, type 89.9
32medulloblastoma9.9
33autoimmune disease 19.9
34spinocerebellar ataxia 259.9
35muscle hypertrophy9.9
36paroxysmal nonkinesigenic dyskinesia9.9
37anemia, sideroblastic, pyridoxine-refractory, autosomal recessive9.9
38cerebellar ataxia9.9
39neurodegeneration with optic atrophy, childhood onset9.9
40autoimmune disease 49.9
41multiple system atrophy9.9
42leprosy9.9
43spinocerebellar ataxia 129.9
44spinocerebellar ataxia 59.9
45familial mediterranean fever, ar9.9
46alexander disease9.9
47spinocerebellar ataxia 149.9
48child syndrome9.9
49arteriovenous fistula9.9
50charcot-marie-tooth disease9.9

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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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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Genetic tests related to Seizures, Benign Neonatal, 1:

id Genetic test Affiliating Genes
1 Benign Familial Neonatal Seizures 124

Anatomical Context for Seizures, Benign Neonatal, 1

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

33
Skin, Skeletal muscle

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 72)
id Gene Variation Type Significance SNP ID Assembly Location
1KCNQ2NM_172107.2(KCNQ2): c.793G> A (p.Ala265Thr)single nucleotide variantLikely pathogenic, Pathogenicrs794727740GRCh37Chr 20, 62073782: 62073782
2KCNQ2NM_172107.2(KCNQ2): c.1016T> G (p.Leu339Arg)single nucleotide variantPathogenicrs118192217GRCh37Chr 20, 62069985: 62069985
3KCNQ2NM_172107.2(KCNQ2): c.1057C> G (p.Arg353Gly)single nucleotide variantPathogenicrs118192218GRCh37Chr 20, 62065223: 62065223
4KCNQ2NM_172107.2(KCNQ2): c.1076C> A (p.Thr359Lys)single nucleotide variantPathogenicrs118192219GRCh37Chr 20, 62065204: 62065204
5KCNQ2NM_172109.1(KCNQ2): c.1119G> A (p.Arg373=)single nucleotide variantPathogenicrs397507449GRCh37Chr 20, 62065161: 62065161
6KCNQ2NM_172107.2(KCNQ2): c.1192_1193delAA (p.Lys398Glufs)deletionPathogenicrs118192222GRCh37Chr 20, 62059744: 62059745
7KCNQ2NM_172107.2(KCNQ2): c.1217+2T> Gsingle nucleotide variantPathogenicrs118192223GRCh37Chr 20, 62059718: 62059718
8KCNQ2NM_172107.2(KCNQ2): c.1288C> T (p.Pro430Ser)single nucleotide variantPathogenicrs118192224GRCh37Chr 20, 62050985: 62050985
9KCNQ2NM_172107.2(KCNQ2): c.1342C> T (p.Arg448Ter)single nucleotide variantPathogenicrs118192226GRCh37Chr 20, 62046439: 62046439
10KCNQ2NM_172107.2(KCNQ2): c.1525+1G> Asingle nucleotide variantPathogenicrs118192228GRCh37Chr 20, 62046255: 62046255
11KCNQ2NM_172107.2(KCNQ2): c.1569_1582delCCCCTGCGAGTTTG (p.Pro524Aspfs)deletionPathogenicrs118192230GRCh37Chr 20, 62045490: 62045503
12KCNQ2NM_172107.2(KCNQ2): c.1632-1G> Tsingle nucleotide variantPathogenicrs118192233GRCh37Chr 20, 62044935: 62044935
13KCNQ2NM_172107.2(KCNQ2): c.1658G> A (p.Arg553Gln)single nucleotide variantPathogenicrs118192234GRCh37Chr 20, 62044908: 62044908
14KCNQ2NM_172107.2(KCNQ2): c.1741C> T (p.Arg581Ter)single nucleotide variantPathogenicrs118192236GRCh37Chr 20, 62044825: 62044825
15KCNQ2NM_172107.2(KCNQ2): c.1742G> A (p.Arg581Gln)single nucleotide variantPathogenicrs118192235GRCh37Chr 20, 62044824: 62044824
16KCNQ2NM_172107.2(KCNQ2): c.1764A> T (p.Arg588Ser)single nucleotide variantPathogenicrs118192237GRCh37Chr 20, 62039889: 62039889
17KCNQ2NM_172107.2(KCNQ2): c.1910T> G (p.Leu637Arg)single nucleotide variantPathogenicrs118192240GRCh37Chr 20, 62038706: 62038706
18KCNQ2NM_172107.2(KCNQ2): c.1930delT (p.Tyr644Thrfs)deletionPathogenicrs118192241GRCh37Chr 20, 62038686: 62038686
19KCNQ2NM_172107.2(KCNQ2): c.1956delG (p.Thr653Glnfs)deletionPathogenicrs118192242GRCh37Chr 20, 62038660: 62038660
20KCNQ2NM_172107.2(KCNQ2): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs118192185GRCh37Chr 20, 62103816: 62103816
21KCNQ2NM_172107.2(KCNQ2): c.2015delG (p.Ser672Thrfs)deletionPathogenicrs118192243GRCh37Chr 20, 62038601: 62038601
22KCNQ2NM_172107.2(KCNQ2): c.204dupC (p.Lys69Glnfs)duplicationPathogenicrs118192188GRCh37Chr 20, 62103613: 62103613
23KCNQ2NM_172107.2(KCNQ2): c.232delC (p.Gln78Argfs)deletionPathogenicrs118192189GRCh37Chr 20, 62103585: 62103585
24KCNQ2NM_172107.2(KCNQ2): c.2597delG (p.Gly866Alafs)deletionPathogenicrs118192245GRCh37Chr 20, 62038019: 62038019
25KCNQ2NM_172107.2(KCNQ2): c.2605_2609dupGGGCC (p.Arg871Glyfs)duplicationPathogenicrs118192246GRCh37Chr 20, 62038007: 62038011
26KCNQ2NM_172107.2(KCNQ2): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs118192186GRCh37Chr 20, 62103815: 62103815
27KCNQ2NM_172107.2(KCNQ2): c.314_316delCCT (p.Ser105del)deletionPathogenicrs118192191GRCh37Chr 20, 62078171: 62078173
28KCNQ2NM_172107.2(KCNQ2): c.346_348delAAG (p.Lys116del)deletionPathogenicrs118192192GRCh37Chr 20, 62078139: 62078141
29KCNQ2NM_172107.2(KCNQ2): c.356A> G (p.Glu119Gly)single nucleotide variantPathogenicrs118192193GRCh37Chr 20, 62078131: 62078131
30KCNQ2NM_172107.2(KCNQ2): c.365C> T (p.Ser122Leu)single nucleotide variantPathogenicrs118192194GRCh37Chr 20, 62078122: 62078122
31KCNQ2NM_172107.2(KCNQ2): c.387+1G> Tsingle nucleotide variantPathogenicrs118192195GRCh37Chr 20, 62078099: 62078099
32KCNQ2NM_172107.2(KCNQ2): c.388-2_388delAGGdeletionPathogenicrs118192196GRCh37Chr 20, 62076717: 62076719
33KCNQ2NM_172107.2(KCNQ2): c.584_593delCTGCGCTCCGinsA (p.Ser195_Leu532delinsTer)indelPathogenicrs118192197GRCh37Chr 20, 62076109: 62076118
34KCNQ2NM_172107.2(KCNQ2): c.585dupT (p.Ala196Cysfs)duplicationPathogenicrs118192198GRCh37Chr 20, 62076117: 62076117
35KCNQ2NM_172107.2(KCNQ2): c.587C> T (p.Ala196Val)single nucleotide variantPathogenicrs118192199GRCh37Chr 20, 62076115: 62076115
36KCNQ2NM_172107.2(KCNQ2): c.622A> G (p.Met208Val)single nucleotide variantPathogenicrs118192201GRCh37Chr 20, 62076080: 62076080
37KCNQ2NM_172107.2(KCNQ2): c.635A> G (p.Asp212Gly)single nucleotide variantPathogenicrs118192202GRCh37Chr 20, 62076067: 62076067
38KCNQ2NM_172107.2(KCNQ2): c.637C> T (p.Arg213Trp)single nucleotide variantPathogenicrs118192203GRCh37Chr 20, 62076065: 62076065
39KCNQ2NM_172107.2(KCNQ2): c.63_66delGGTG (p.Val22Alafs)deletionPathogenicrs118192187GRCh37Chr 20, 62103751: 62103754
40KCNQ2NM_172107.2(KCNQ2): c.684C> A (p.His228Gln)single nucleotide variantPathogenicrs118192204GRCh37Chr 20, 62076018: 62076018
41KCNQ2NM_172107.2(KCNQ2): c.727C> T (p.Leu243Phe)single nucleotide variantPathogenicrs118192205GRCh37Chr 20, 62073848: 62073848
42KCNQ2NM_172107.2(KCNQ2): c.740C> A (p.Ser247Ter)single nucleotide variantPathogenicrs74315392GRCh37Chr 20, 62073835: 62073835
43KCNQ2NM_172107.2(KCNQ2): c.749T> G (p.Val250Gly)single nucleotide variantPathogenicrs118192206GRCh37Chr 20, 62073826: 62073826
44KCNQ2NM_172107.2(KCNQ2): c.773A> G (p.Asn258Ser)single nucleotide variantPathogenicrs118192207GRCh37Chr 20, 62073802: 62073802
45KCNQ2NM_172107.2(KCNQ2): c.807G> A (p.Trp269Ter)single nucleotide variantPathogenicrs118192208GRCh37Chr 20, 62073768: 62073768
46KCNQ2NM_172107.2(KCNQ2): c.812G> T (p.Gly271Val)single nucleotide variantPathogenicrs118192209GRCh37Chr 20, 62073763: 62073763
47KCNQ2NM_172107.2(KCNQ2): c.847_848insGT (p.Lys283Serfs)insertionPathogenicrs118192210GRCh37Chr 20, 62071030: 62071031
48KCNQ2NM_172107.2(KCNQ2): c.881C> G (p.Ala294Gly)single nucleotide variantPathogenicrs118192211GRCh37Chr 20, 62070997: 62070997
49KCNQ2NM_172107.2(KCNQ2): c.910_912delTTC (p.Phe305del)deletionPathogenicrs118192212GRCh37Chr 20, 62070966: 62070968
50KCNQ2NM_172107.2(KCNQ2): c.939dupG (p.Ser314Valfs)duplicationPathogenicrs118192213GRCh37Chr 20, 62070062: 62070062
51KCNQ2NM_172107.2(KCNQ2): c.967C> T (p.Gln323Ter)single nucleotide variantPathogenicrs118192214GRCh37Chr 20, 62070034: 62070034
52KCNQ2NM_172107.2(KCNQ2): c.997C> T (p.Arg333Trp)single nucleotide variantPathogenicrs118192215GRCh37Chr 20, 62070004: 62070004
53KCNQ2NM_172107.2(KCNQ2): c.998G> A (p.Arg333Gln)single nucleotide variantPathogenicrs118192216GRCh37Chr 20, 62070003: 62070003
54KCNQ2NM_172107.2(KCNQ2): c.296+1G> Asingle nucleotide variantPathogenicrs118192190GRCh37Chr 20, 62103520: 62103520
55KCNQ2NM_172107.2(KCNQ2): c.1302-1G> Csingle nucleotide variantPathogenicrs118192225GRCh37Chr 20, 62046480: 62046480
56KCNQ2NM_172107.2(KCNQ2): c.1764-2A> Gsingle nucleotide variantPathogenicrs118192238GRCh37Chr 20, 62039891: 62039891
57KCNQ2NM_172107.2(KCNQ2): c.1764-6C> Asingle nucleotide variantPathogenicrs118192239GRCh37Chr 20, 62039895: 62039895
58KCNQ2NM_172107.2(KCNQ2): c.1148+2T> Gsingle nucleotide variantPathogenicrs118192221GRCh37Chr 20, 62062691: 62062691
59KCNQ2NP_742105.1: p.Lys554Asnundetermined variantPathogenic
60KCNQ2NM_172107.2: c.(1228_1230)del12deletionPathogenic
61KCNQ2NC_000020.10: g.62015806_62064474del48669deletionPathogenicGRCh37Chr 20, 62015806: 62064474
62KCNQ2NM_172107.2(KCNQ2): c.851A> G (p.Tyr284Cys)single nucleotide variantPathogenicrs28939683GRCh37Chr 20, 62071027: 62071027
63KCNQ2NM_172107.2(KCNQ2): c.916G> A (p.Ala306Thr)single nucleotide variantPathogenicrs74315390GRCh37Chr 20, 62070962: 62070962
64KCNQ2NM_172107.2(KCNQ2): c.1684_1685insGCCCT (p.Tyr562Cysfs)insertionPathogenicrs118192231GRCh37Chr 20, 62044881: 62044882
65KCNQ2KCNQ2, 1-BP DEL, 1846TdeletionPathogenic
66KCNQ2NM_172107.2(KCNQ2): c.640C> T (p.Arg214Trp)single nucleotide variantLikely pathogenic, Pathogenicrs28939684GRCh37Chr 20, 62076062: 62076062
67KCNQ2NM_172107.2(KCNQ2): c.619C> T (p.Arg207Trp)single nucleotide variantPathogenicrs74315391GRCh37Chr 20, 62076083: 62076083
68KCNQ2KCNQ2, 10-BP DEL/1-BP INS, NT761indelPathogenic
69KCNQ2NM_172107.2(KCNQ2): c.1662G> T (p.Lys554Asn)single nucleotide variantPathogenicrs267607198GRCh37Chr 20, 62044904: 62044904
70KCNQ2NM_172107.2(KCNQ2): c.740C> G (p.Ser247Trp)single nucleotide variantPathogenicrs74315392GRCh37Chr 20, 62073835: 62073835
71KCNQ2NM_172107.2(KCNQ2): c.2127delT (p.Val710Serfs)deletionPathogenicrs118192244GRCh37Chr 20, 62038489: 62038489
72KCNQ2NM_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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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