MCID: SZR008
MIFTS: 33

Seizures, Benign Neonatal, 1 malady

Categories: Genetic diseases, Neuronal diseases, Blood 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 51
Myokymia 51 26 12
Seizures, Benign Familial Neonatal 1 69 26
Myokymia with Neonatal Epilepsy 69 67
Convulsions Benign Familial Neonatal 1 with Myokymia 69
Benign Neonatal Epilepsy 1 and/or Myokymia 69
Benign Neonatal Epilepsy 1 with Myokymia 69
Benign Neonatal Epilepsy Atypical Severe 69
 
Benign Familial Neonatal Convulsions 1 69
Seizures, Benign Familial Neonatal, 1 67
Benign Neonatal Epilepsy 1 69
Bfnc/myokymia Syndrome 69
Myokymia Isolated 69
Bfnc1 69
Bfns1 69
Ebn1 69

Characteristics:

HPO:

63
seizures, benign neonatal, 1:
Inheritance: autosomal recessive inheritance, autosomal dominant inheritance, heterogeneous
Onset and clinical course: neonatal onset, phenotypic variability

Classifications:



External Ids:

OMIM51 121200

Summaries for Seizures, Benign Neonatal, 1

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UniProtKB/Swiss-Prot:69 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 dyskinesia, familial, with facial myokymia and episodic ataxia/myokymia syndrome, and has symptoms including global developmental delay, motor delay and generalized tonic-clonic seizures. An important gene associated with Seizures, Benign Neonatal, 1 is KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2). Affiliated tissues include skin and skeletal muscle.

OMIM:51 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 73)
idRelated DiseaseScoreTop Affiliating Genes
1dyskinesia, familial, with facial myokymia12.3
2episodic ataxia/myokymia syndrome12.3
3isolated facial myokymia12.0
4myokymia with neonatal epilepsy11.9
5myokymia 1 with or without hypomagnesemia11.8
6episodic ataxia11.4
7adcy5-related dyskinesia11.1
8neuromyotonia and axonal neuropathy, autosomal recessive11.0
9seizures, benign familial infantile, 310.8
10seizures, benign neonatal, type 210.8
11seizures, benign familial infantile, 110.8
12epileptic encephalopathy, early infantile, 710.8
13episodic ataxia, type 310.7
14ataxia10.1
15glioma9.8
16myotonia9.8
17tremor9.8
18neuronitis9.8
19neuropathy9.8
20hemifacial spasm9.8
21nasopharyngeal carcinoma9.7
22motor neuron disease9.7
23ptosis9.7
24nasopharyngitis9.7
25lateral sclerosis9.7
26thymoma9.7
27laryngitis9.7
28polyradiculoneuropathy9.7
29dystonia9.7
30myoclonus9.7
31spasticity9.7
32medulloblastoma9.5
33muscle hypertrophy9.5
34cerebellar ataxia9.5
35multiple system atrophy9.5
36leprosy9.5
37alexander disease9.5
38arteriovenous fistula9.5
39charcot-marie-tooth disease9.5
40hepatitis9.5
41hepatitis b9.5
42hereditary ataxia9.5
43hydrocephalus9.5
44retinitis pigmentosa9.5
45spinal stenosis9.5
46scoliosis9.5
47dermatomyositis9.5
48tooth disease9.5
49arachnoiditis9.5
50bell's palsy9.5

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

Human phenotypes related to Seizures, Benign Neonatal, 1:

 63 (show all 6)
id Description HPO Frequency HPO Source Accession
1 global developmental delay63 rare (5%) HP:0001263
2 motor delay63 rare (5%) HP:0001270
3 generalized tonic-clonic seizures63 HP:0002069
4 focal clonic seizures63 HP:0002266
5 febrile seizures63 HP:0002373
6 myokymia63 HP:0002411

UMLS symptoms related to Seizures, Benign Neonatal, 1:


myokymia

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 FamilyUnknown statusNCT01250704

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 126
2 Myokymia26

Anatomical Context for Seizures, Benign Neonatal, 1

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

35
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:

69
id Symbol AA change Variation ID SNP ID
1KCNQ2p.Arg214TrpVAR_010929rs28939684
2KCNQ2p.Tyr284CysVAR_010930rs28939683
3KCNQ2p.Ala306ThrVAR_010931rs74315390
4KCNQ2p.Arg207TrpVAR_026987rs74315391
5KCNQ2p.Met208ValVAR_026988rs118192201
6KCNQ2p.His228GlnVAR_026989rs118192204
7KCNQ2p.Leu243PheVAR_026990rs118192205
8KCNQ2p.Arg333GlnVAR_026992rs118192216
9KCNQ2p.Lys554AsnVAR_026993rs267607198

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

5 (show all 118)
id Gene Variation Type Significance SNP ID Assembly Location
1KCNQ2NM_172107.3(KCNQ2): c.1569_1582delCCCCTGCGAGTTTG (p.Pro524Aspfs)deletionPathogenicrs118192230GRCh37Chr 20, 62045490: 62045503
2KCNQ2NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr)SNVLikely pathogenic, Pathogenicrs794727740GRCh37Chr 20, 62073782: 62073782
3KCNQ2NM_172107.3(KCNQ2): c.297-2A> GSNVPathogenicrs796052615GRCh37Chr 20, 62078192: 62078192
4KCNQ2NM_172107.3(KCNQ2): c.1639C> T (p.Arg547Trp)SNVLikely pathogenic, Pathogenicrs796052650GRCh38Chr 20, 63413574: 63413574
5KCNQ2NM_172107.3(KCNQ2): c.1657C> T (p.Arg553Trp)SNVPathogenicrs759584387GRCh37Chr 20, 62044909: 62044909
6KCNQ2NM_172107.3(KCNQ2): c.333_334delGT (p.Ser113Hisfs)deletionPathogenicrs796052663GRCh37Chr 20, 62078153: 62078154
7KCNQ2NM_172107.3(KCNQ2): c.913_915delTTC (p.Phe305del)deletionPathogenicrs118192212GRCh38Chr 20, 63439610: 63439612
8KCNQ2NM_172107.3(KCNQ2): c.1016T> G (p.Leu339Arg)SNVPathogenicrs118192217GRCh37Chr 20, 62069985: 62069985
9KCNQ2NM_172107.3(KCNQ2): c.1057C> G (p.Arg353Gly)SNVPathogenicrs118192218GRCh37Chr 20, 62065223: 62065223
10KCNQ2NM_172107.3(KCNQ2): c.1076C> A (p.Thr359Lys)SNVPathogenicrs118192219GRCh37Chr 20, 62065204: 62065204
11KCNQ2NM_172109.2(KCNQ2): c.1119G> A (p.Arg373=)SNVPathogenicrs397507449GRCh37Chr 20, 62065161: 62065161
12KCNQ2NM_172107.3(KCNQ2): c.1192_1193delAA (p.Lys398Glufs)deletionPathogenicrs118192222GRCh37Chr 20, 62059744: 62059745
13KCNQ2NM_172107.3(KCNQ2): c.1217+2T> GSNVPathogenicrs118192223GRCh37Chr 20, 62059718: 62059718
14KCNQ2NM_172107.3(KCNQ2): c.1288C> T (p.Pro430Ser)SNVPathogenicrs118192224GRCh37Chr 20, 62050985: 62050985
15KCNQ2NM_172107.3(KCNQ2): c.1342C> T (p.Arg448Ter)SNVPathogenicrs118192226GRCh37Chr 20, 62046439: 62046439
16KCNQ2NM_172107.3(KCNQ2): c.1525+1G> ASNVPathogenicrs118192228GRCh37Chr 20, 62046255: 62046255
17KCNQ2NM_172107.3(KCNQ2): c.1632-1G> TSNVPathogenicrs118192233GRCh37Chr 20, 62044935: 62044935
18KCNQ2NM_172107.3(KCNQ2): c.1658G> A (p.Arg553Gln)SNVPathogenicrs118192234GRCh37Chr 20, 62044908: 62044908
19KCNQ2NM_172107.3(KCNQ2): c.1741C> T (p.Arg581Ter)SNVPathogenicrs118192236GRCh37Chr 20, 62044825: 62044825
20KCNQ2NM_172107.3(KCNQ2): c.1742G> A (p.Arg581Gln)SNVLikely pathogenic, Pathogenicrs118192235GRCh37Chr 20, 62044824: 62044824
21KCNQ2NM_172107.3(KCNQ2): c.1764A> T (p.Arg588Ser)SNVPathogenicrs118192237GRCh37Chr 20, 62039889: 62039889
22KCNQ2NM_172107.3(KCNQ2): c.1910T> G (p.Leu637Arg)SNVPathogenicrs118192240GRCh37Chr 20, 62038706: 62038706
23KCNQ2NM_172107.3(KCNQ2): c.1930delT (p.Tyr644Thrfs)deletionPathogenicrs118192241GRCh37Chr 20, 62038686: 62038686
24KCNQ2NM_172107.3(KCNQ2): c.1956delG (p.Thr653Glnfs)deletionPathogenicrs118192242GRCh37Chr 20, 62038660: 62038660
25KCNQ2NM_172107.3(KCNQ2): c.1A> G (p.Met1Val)SNVPathogenicrs118192185GRCh37Chr 20, 62103816: 62103816
26KCNQ2NM_172107.3(KCNQ2): c.2015delG (p.Ser672Thrfs)deletionPathogenicrs118192243GRCh37Chr 20, 62038601: 62038601
27KCNQ2NM_172107.3(KCNQ2): c.204dupC (p.Lys69Glnfs)duplicationPathogenicrs118192188GRCh37Chr 20, 62103613: 62103613
28KCNQ2NM_172107.3(KCNQ2): c.232delC (p.Gln78Argfs)deletionPathogenicrs118192189GRCh37Chr 20, 62103585: 62103585
29KCNQ2NM_172107.3(KCNQ2): c.2597delG (p.Gly866Alafs)deletionPathogenicrs118192245GRCh37Chr 20, 62038019: 62038019
30KCNQ2NM_172107.3(KCNQ2): c.2605_2609dupGGGCC (p.Arg871Glyfs)duplicationPathogenicrs118192246GRCh37Chr 20, 62038007: 62038011
31KCNQ2NM_172107.3(KCNQ2): c.2T> C (p.Met1Thr)SNVPathogenicrs118192186GRCh37Chr 20, 62103815: 62103815
32KCNQ2NM_172107.2(KCNQ2): c.314_316delCCT (p.Ser105del)deletionPathogenicrs118192191GRCh37Chr 20, 62078171: 62078173
33KCNQ2NM_172107.3(KCNQ2): c.346_348delAAG (p.Lys116del)deletionPathogenicrs118192192GRCh37Chr 20, 62078139: 62078141
34KCNQ2NM_172107.3(KCNQ2): c.356A> G (p.Glu119Gly)SNVPathogenicrs118192193GRCh37Chr 20, 62078131: 62078131
35KCNQ2NM_172107.3(KCNQ2): c.365C> T (p.Ser122Leu)SNVPathogenicrs118192194GRCh37Chr 20, 62078122: 62078122
36KCNQ2NM_172107.3(KCNQ2): c.387+1G> TSNVPathogenicrs118192195GRCh37Chr 20, 62078099: 62078099
37KCNQ2NM_172107.3(KCNQ2): c.388-2_388delAGGdeletionPathogenicrs118192196GRCh37Chr 20, 62076717: 62076719
38KCNQ2NM_172107.3(KCNQ2): c.584_593delCTGCGCTCCGinsA (p.Ser195_Leu532delinsTer)indelPathogenicrs118192197GRCh37Chr 20, 62076109: 62076118
39KCNQ2NM_172107.3(KCNQ2): c.585dupT (p.Ala196Cysfs)duplicationPathogenicrs118192198GRCh37Chr 20, 62076117: 62076117
40KCNQ2NM_172107.3(KCNQ2): c.587C> T (p.Ala196Val)SNVPathogenicrs118192199GRCh37Chr 20, 62076115: 62076115
41KCNQ2NM_172107.3(KCNQ2): c.622A> G (p.Met208Val)SNVPathogenicrs118192201GRCh37Chr 20, 62076080: 62076080
42KCNQ2NM_172107.3(KCNQ2): c.635A> G (p.Asp212Gly)SNVPathogenicrs118192202GRCh37Chr 20, 62076067: 62076067
43KCNQ2NM_172107.3(KCNQ2): c.637C> T (p.Arg213Trp)SNVPathogenicrs118192203GRCh37Chr 20, 62076065: 62076065
44KCNQ2NM_172107.3(KCNQ2): c.63_66delGGTG (p.Val22Alafs)deletionPathogenicrs118192187GRCh37Chr 20, 62103751: 62103754
45KCNQ2NM_172107.3(KCNQ2): c.684C> A (p.His228Gln)SNVPathogenicrs118192204GRCh37Chr 20, 62076018: 62076018
46KCNQ2NM_172107.3(KCNQ2): c.727C> T (p.Leu243Phe)SNVPathogenicrs118192205GRCh37Chr 20, 62073848: 62073848
47KCNQ2NM_172107.3(KCNQ2): c.740C> A (p.Ser247Ter)SNVPathogenicrs74315392GRCh37Chr 20, 62073835: 62073835
48KCNQ2NM_172107.3(KCNQ2): c.749T> G (p.Val250Gly)SNVPathogenicrs118192206GRCh37Chr 20, 62073826: 62073826
49KCNQ2NM_172107.3(KCNQ2): c.773A> G (p.Asn258Ser)SNVPathogenicrs118192207GRCh37Chr 20, 62073802: 62073802
50KCNQ2NM_172107.3(KCNQ2): c.807G> A (p.Trp269Ter)SNVPathogenicrs118192208GRCh37Chr 20, 62073768: 62073768
51KCNQ2NM_172107.3(KCNQ2): c.812G> T (p.Gly271Val)SNVPathogenicrs118192209GRCh37Chr 20, 62073763: 62073763
52KCNQ2NM_172107.3(KCNQ2): c.847_848insGT (p.Lys283Serfs)insertionPathogenicrs118192210GRCh37Chr 20, 62071030: 62071031
53KCNQ2NM_172107.3(KCNQ2): c.881C> G (p.Ala294Gly)SNVPathogenicrs118192211GRCh37Chr 20, 62070997: 62070997
54KCNQ2NM_172107.3(KCNQ2): c.939dupG (p.Ser314Valfs)duplicationPathogenicrs118192213GRCh37Chr 20, 62070062: 62070062
55KCNQ2NM_172107.3(KCNQ2): c.967C> T (p.Gln323Ter)SNVPathogenicrs118192214GRCh37Chr 20, 62070034: 62070034
56KCNQ2NM_172107.3(KCNQ2): c.997C> T (p.Arg333Trp)SNVPathogenicrs118192215GRCh37Chr 20, 62070004: 62070004
57KCNQ2NM_172107.3(KCNQ2): c.998G> A (p.Arg333Gln)SNVPathogenicrs118192216GRCh37Chr 20, 62070003: 62070003
58KCNQ2NM_172107.3(KCNQ2): c.296+1G> ASNVPathogenicrs118192190GRCh37Chr 20, 62103520: 62103520
59KCNQ2NM_172107.3(KCNQ2): c.1302-1G> CSNVPathogenicrs118192225GRCh37Chr 20, 62046480: 62046480
60KCNQ2NM_172107.3(KCNQ2): c.1764-2A> GSNVPathogenicrs118192238GRCh37Chr 20, 62039891: 62039891
61KCNQ2NM_172107.3(KCNQ2): c.1764-6C> ASNVPathogenicrs118192239GRCh37Chr 20, 62039895: 62039895
62KCNQ2NM_172107.3(KCNQ2): c.1148+2T> GSNVPathogenicrs118192221GRCh37Chr 20, 62062691: 62062691
63KCNQ2NM_172107.3(KCNQ2): c.775G> T (p.Asp259Tyr)SNVPathogenicrs777257591GRCh38Chr 20, 63442447: 63442447
64KCNQ2NM_172107.3(KCNQ2): c.319C> T (p.Leu107Phe)SNVPathogenicrs864321712GRCh37Chr 20, 62078168: 62078168
65KCNQ2NM_172107.3(KCNQ2): c.1639C> G (p.Arg547Gly)SNVLikely pathogenicrs796052650GRCh38Chr 20, 63413574: 63413574
66KCNQ2NM_172107.3(KCNQ2): c.1887+5G> ASNVPathogenicrs777916008GRCh37Chr 20, 62039761: 62039761
67KCNQ2NM_172109.2(KCNQ2): c.1120T> C (p.Tyr374His)SNVPathogenicrs886042605GRCh37Chr 20, 62065160: 62065160
68KCNQ2NM_172107.3(KCNQ2): c.(?_-177)_690+?deldeletionPathogenicGRCh38Chr 20, 63444659: 63472640
69KCNQ2NM_172107.2: c.1-?c.993+?deldeletionPathogenicChr na, -1: -1
70KCNQ2NM_172107.3(KCNQ2): c.340A> G (p.Thr114Ala)SNVPathogenicGRCh38Chr 20, 63446794: 63446794
71KCNQ2NM_172107.3(KCNQ2): c.460T> G (p.Tyr154Asp)SNVPathogenicGRCh37Chr 20, 62076645: 62076645
72KCNQ2NM_172107.2: c.474-940_c.1424+1582deldeletionPathogenicChr na, -1: -1
73KCNQ2NM_172107.3(KCNQ2): c.475G> A (p.Gly159Arg)SNVPathogenicGRCh37Chr 20, 62076630: 62076630
74KCNQ2NM_172107.3(KCNQ2): c.476G> A (p.Gly159Glu)SNVPathogenicGRCh38Chr 20, 63445276: 63445276
75KCNQ2NM_172107.2: c.565-682_c.1295+?deldeletionPathogenicChr na, -1: -1
76KCNQ2NM_172107.2: c.565-?c.1478+?undetermined variantPathogenicChr na, -1: -1
77KCNQ2NM_172107.3(KCNQ2): c.592_594delCGGinsA (p.Arg198Lysfs)indelPathogenicGRCh37Chr 20, 62076108: 62076110
78KCNQ2NM_172107.3(KCNQ2): c.649A> G (p.Thr217Ala)SNVPathogenicGRCh38Chr 20, 63444700: 63444700
79KCNQ2NM_172107.3(KCNQ2): c.650C> A (p.Thr217Asn)SNVPathogenicGRCh37Chr 20, 62076052: 62076052
80KCNQ2NM_172107.3(KCNQ2): c.928-1G> CSNVPathogenicGRCh37Chr 20, 62070074: 62070074
81KCNQ2NM_172107.3(KCNQ2): c.1030T> C (p.Trp344Arg)SNVPathogenicGRCh37Chr 20, 62065250: 62065250
82KCNQ2NM_172107.3(KCNQ2): c.1051C> G (p.Leu351Val)SNVPathogenicGRCh37Chr 20, 62065229: 62065229
83KCNQ2NM_172107.3(KCNQ2): c.1051C> T (p.Leu351Phe)SNVPathogenicGRCh37Chr 20, 62065229: 62065229
84KCNQ2NM_172107.3(KCNQ2): c.1054T> C (p.Ser352Pro)SNVPathogenicGRCh37Chr 20, 62065226: 62065226
85KCNQ2NM_172107.3(KCNQ2): c.1073C> T (p.Ser358Phe)SNVPathogenicGRCh37Chr 20, 62065207: 62065207
86KCNQ2NM_172107.3(KCNQ2): c.1085A> G (p.Tyr362Cys)SNVPathogenicGRCh37Chr 20, 62065195: 62065195
87KCNQ2NM_172107.3(KCNQ2): c.1118+3A> GSNVPathogenicGRCh37Chr 20, 62065159: 62065159
88KCNQ2NM_172107.3(KCNQ2): c.1126delA (p.Thr376Leufs)deletionPathogenicGRCh38Chr 20, 63431362: 63431362
89KCNQ2c.1228_1230deldeletionPathogenicChr na, -1: -1
90KCNQ2NM_172107.3(KCNQ2): c.1195_1196delAG (p.Ser399Terfs)deletionPathogenicGRCh38Chr 20, 63428388: 63428389
91KCNQ2c.1228_1230delundetermined variantPathogenicChr na, -1: -1
92KCNQ2NM_172107.3(KCNQ2): c.1247+1G> ASNVPathogenicGRCh38Chr 20, 63424176: 63424176
93KCNQ2NM_172107.3(KCNQ2): c.1248-?_*(455_?)deldeletionPathogenicGRCh37Chr 20, 62037542: 62051025
94KCNQ2NM_172107.3(KCNQ2): c.1418_1419delTC (p.Leu473Argfs)deletionPathogenicGRCh37Chr 20, 62046362: 62046363
95KCNQ2NM_172107.2: c.1479-768_c.1940+579del3018bpdeletionPathogenicChr na, -1: -1
96KCNQ2NM_172107.3(KCNQ2): c.1609A> T (p.Lys537Ter)SNVPathogenicGRCh37Chr 20, 62045463: 62045463
97KCNQ2NM_172107.3(KCNQ2): c.1631+1G> ASNVPathogenicGRCh37Chr 20, 62045440: 62045440
98KCNQ2NM_172107.3(KCNQ2): c.1732A> G (p.Met578Val)SNVPathogenicGRCh38Chr 20, 63413481: 63413481
99KCNQ2NM_172107.3(KCNQ2): c.1764-?_*(455_?)deldeletionPathogenicGRCh37Chr 20, 62037542: 62039889
100KCNQ2NM_172107.3(KCNQ2): c.1783C> T (p.Arg595Trp)SNVPathogenicGRCh37Chr 20, 62039870: 62039870
101KCNQ2NM_172107.3(KCNQ2): c.1856_1886del31 (p.Met619Argfs)deletionPathogenicGRCh37Chr 20, 62039767: 62039797
102KCNQ2NM_172107.2: c.2318_2319dupGduplicationPathogenicChr na, -1: -1
103KCNQ2NM_172107.3(KCNQ2): c.2599_2603dupTGGGC (p.Arg871Glyfs)duplicationPathogenicGRCh38Chr 20, 63406660: 63406664
104KCNQ2NP_742105.1: p.Lys554Asnundetermined variantPathogenicChr na, -1: -1
105KCNQ2NM_172107.2: c.(1228_1230)del12deletionPathogenicChr na, -1: -1
106KCNQ2NM_172107.3(KCNQ2): c.869G> A (p.Gly290Asp)SNVPathogenicrs397514582GRCh37Chr 20, 62071009: 62071009
107KCNQ2NC_000020.10: g.62015806_62064474del48669deletionPathogenicGRCh37Chr 20, 62015806: 62064474
108KCNQ2NM_172107.3(KCNQ2): c.851A> G (p.Tyr284Cys)SNVPathogenicrs28939683GRCh37Chr 20, 62071027: 62071027
109KCNQ2NM_172107.3(KCNQ2): c.916G> A (p.Ala306Thr)SNVPathogenicrs74315390GRCh37Chr 20, 62070962: 62070962
110KCNQ2NM_172107.3(KCNQ2): c.1684_1685insGCCCT (p.Tyr562Cysfs)insertionPathogenicrs118192231GRCh37Chr 20, 62044881: 62044882
111KCNQ2KCNQ2, 1-BP DEL, 1846TdeletionPathogenicChr na, -1: -1
112KCNQ2NM_172107.3(KCNQ2): c.640C> T (p.Arg214Trp)SNVLikely pathogenic, Pathogenicrs28939684GRCh37Chr 20, 62076062: 62076062
113KCNQ2NM_172107.3(KCNQ2): c.619C> T (p.Arg207Trp)SNVPathogenicrs74315391GRCh37Chr 20, 62076083: 62076083
114KCNQ2KCNQ2, 10-BP DEL/1-BP INS, NT761indelPathogenicChr na, -1: -1
115KCNQ2NM_172107.3(KCNQ2): c.1662G> T (p.Lys554Asn)SNVPathogenicrs267607198GRCh37Chr 20, 62044904: 62044904
116KCNQ2NM_172107.3(KCNQ2): c.740C> G (p.Ser247Trp)SNVPathogenicrs74315392GRCh37Chr 20, 62073835: 62073835
117KCNQ2NM_172107.3(KCNQ2): c.2127delT (p.Val710Serfs)deletionPathogenicrs118192244GRCh37Chr 20, 62038489: 62038489
118KCNQ2NM_172107.3(KCNQ2): c.620G> A (p.Arg207Gln)SNVPathogenicrs118192200GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet