BFNS1
MCID: SZR008
MIFTS: 32

Seizures, Benign Neonatal, 1 (BFNS1) malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Seizures, Benign Neonatal, 1

About this section

Aliases & Descriptions for Seizures, Benign Neonatal, 1:

Name: Seizures, Benign Neonatal, 1 52
Myokymia 52 27 12
Seizures, Benign Familial Neonatal 1 70 27
Myokymia with Neonatal Epilepsy 70 68
Convulsions Benign Familial Neonatal 1 with Myokymia 70
Benign Neonatal Epilepsy 1 and/or Myokymia 70
Benign Neonatal Epilepsy 1 with Myokymia 70
Benign Neonatal Epilepsy Atypical Severe 70
 
Benign Familial Neonatal Convulsions 1 70
Seizures, Benign Familial Neonatal, 1 68
Benign Neonatal Epilepsy 1 70
Bfnc/myokymia Syndrome 70
Myokymia Isolated 70
Bfnc1 70
Bfns1 70
Ebn1 70

Characteristics:

HPO:

64
seizures, benign neonatal, 1:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance, heterogeneous
Onset and clinical course: neonatal onset, phenotypic variability

Classifications:



External Ids:

OMIM52 121200

Summaries for Seizures, Benign Neonatal, 1

About this section
UniProtKB/Swiss-Prot:70 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 myokymia, myokymia and global developmental delay. 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:52 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

About this section

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 & Phenotypes for Seizures, Benign Neonatal, 1

About this section

Symptoms by clinical synopsis from OMIM:

121200

Clinical features from OMIM:

121200

Human phenotypes related to Seizures, Benign Neonatal, 1:

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 global developmental delay64 HP:0001263
2 motor delay64 HP:0001270
3 generalized tonic-clonic seizures64 HP:0002069
4 focal clonic seizures64 HP:0002266
5 febrile seizures64 HP:0002373
6 myokymia64 HP:0002411

UMLS symptoms related to Seizures, Benign Neonatal, 1:


myokymia

Drugs & Therapeutics for Seizures, Benign Neonatal, 1

About this section

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

About this section

Genetic tests related to Seizures, Benign Neonatal, 1:

id Genetic test Affiliating Genes
1 Benign Familial Neonatal Seizures 127
2 Myokymia27

Anatomical Context for Seizures, Benign Neonatal, 1

About this section

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

36
Skin, Skeletal muscle

Publications for Seizures, Benign Neonatal, 1

About this section

Variations for Seizures, Benign Neonatal, 1

About this section

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

70
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 108)
id Gene Variation Type Significance SNP ID Assembly Location
1KCNQ2NM_ 172107.3(KCNQ2): c.793G> A (p.Ala265Thr)SNVPathogenic/ Likely pathogenicrs794727740GRCh37Chr 20, 62073782: 62073782
2KCNQ2NM_ 172107.3(KCNQ2): c.297-2A> GSNVPathogenicrs796052615GRCh37Chr 20, 62078192: 62078192
3KCNQ2NM_ 172107.3(KCNQ2): c.1639C> T (p.Arg547Trp)SNVPathogenic/ Likely pathogenicrs796052650GRCh38Chr 20, 63413574: 63413574
4KCNQ2NM_ 172107.3(KCNQ2): c.1657C> T (p.Arg553Trp)SNVPathogenicrs759584387GRCh37Chr 20, 62044909: 62044909
5KCNQ2NM_ 172107.3(KCNQ2): c.333_ 334delGT (p.Ser113Hisfs)deletionPathogenicrs796052663GRCh37Chr 20, 62078153: 62078154
6KCNQ2NM_ 172107.3(KCNQ2): c.1016T> G (p.Leu339Arg)SNVPathogenicrs118192217GRCh37Chr 20, 62069985: 62069985
7KCNQ2NM_ 172107.3(KCNQ2): c.1057C> G (p.Arg353Gly)SNVPathogenicrs118192218GRCh37Chr 20, 62065223: 62065223
8KCNQ2NM_ 172107.3(KCNQ2): c.1076C> A (p.Thr359Lys)SNVPathogenicrs118192219GRCh37Chr 20, 62065204: 62065204
9KCNQ2NM_ 172107.3(KCNQ2): c.1118+1G> ASNVPathogenicrs397507449GRCh37Chr 20, 62065161: 62065161
10KCNQ2NM_ 172107.3(KCNQ2): c.1192_ 1193delAA (p.Lys398Glufs)deletionPathogenicrs118192222GRCh37Chr 20, 62059744: 62059745
11KCNQ2NM_ 172107.3(KCNQ2): c.1217+2T> GSNVPathogenicrs118192223GRCh37Chr 20, 62059718: 62059718
12KCNQ2NM_ 172107.3(KCNQ2): c.1288C> T (p.Pro430Ser)SNVPathogenicrs118192224GRCh37Chr 20, 62050985: 62050985
13KCNQ2NM_ 172107.3(KCNQ2): c.1342C> T (p.Arg448Ter)SNVPathogenicrs118192226GRCh37Chr 20, 62046439: 62046439
14KCNQ2NM_ 172107.3(KCNQ2): c.1525+1G> ASNVPathogenicrs118192228GRCh37Chr 20, 62046255: 62046255
15KCNQ2NM_ 172107.3(KCNQ2): c.1632-1G> TSNVPathogenicrs118192233GRCh37Chr 20, 62044935: 62044935
16KCNQ2NM_ 172107.3(KCNQ2): c.1658G> A (p.Arg553Gln)SNVPathogenicrs118192234GRCh37Chr 20, 62044908: 62044908
17KCNQ2NM_ 172107.3(KCNQ2): c.1741C> T (p.Arg581Ter)SNVPathogenicrs118192236GRCh37Chr 20, 62044825: 62044825
18KCNQ2NM_ 172107.3(KCNQ2): c.1742G> A (p.Arg581Gln)SNVPathogenic/ Likely pathogenicrs118192235GRCh37Chr 20, 62044824: 62044824
19KCNQ2NM_ 172107.3(KCNQ2): c.1764A> T (p.Arg588Ser)SNVPathogenicrs118192237GRCh37Chr 20, 62039889: 62039889
20KCNQ2NM_ 172107.3(KCNQ2): c.1910T> G (p.Leu637Arg)SNVPathogenicrs118192240GRCh38Chr 20, 63407353: 63407353
21KCNQ2NM_ 172107.3(KCNQ2): c.1930delT (p.Tyr644Thrfs)deletionPathogenicrs118192241GRCh37Chr 20, 62038686: 62038686
22KCNQ2NM_ 172107.3(KCNQ2): c.1956delG (p.Thr653Glnfs)deletionPathogenicrs118192242GRCh37Chr 20, 62038660: 62038660
23KCNQ2NM_ 172107.3(KCNQ2): c.1A> G (p.Met1Val)SNVPathogenic/ Likely pathogenicrs118192185GRCh37Chr 20, 62103816: 62103816
24KCNQ2NM_ 172107.3(KCNQ2): c.2015delG (p.Ser672Thrfs)deletionPathogenicrs118192243GRCh37Chr 20, 62038601: 62038601
25KCNQ2NM_ 172107.3(KCNQ2): c.204dupC (p.Lys69Glnfs)duplicationPathogenicrs118192188GRCh37Chr 20, 62103613: 62103613
26KCNQ2NM_ 172107.3(KCNQ2): c.232delC (p.Gln78Argfs)deletionPathogenicrs118192189GRCh37Chr 20, 62103585: 62103585
27KCNQ2NM_ 172107.3(KCNQ2): c.2597delG (p.Gly866Alafs)deletionPathogenicrs118192245GRCh37Chr 20, 62038019: 62038019
28KCNQ2NM_ 172107.3(KCNQ2): c.2605_ 2609dupGGGCC (p.Arg871Glyfs)duplicationPathogenicrs118192246GRCh37Chr 20, 62038007: 62038011
29KCNQ2NM_ 172107.3(KCNQ2): c.2T> C (p.Met1Thr)SNVPathogenicrs118192186GRCh37Chr 20, 62103815: 62103815
30KCNQ2NM_ 172107.2(KCNQ2): c.314_ 316delCCT (p.Ser105del)deletionPathogenicrs118192191GRCh37Chr 20, 62078171: 62078173
31KCNQ2NM_ 172107.3(KCNQ2): c.356A> G (p.Glu119Gly)SNVPathogenicrs118192193GRCh37Chr 20, 62078131: 62078131
32KCNQ2NM_ 172107.3(KCNQ2): c.365C> T (p.Ser122Leu)SNVPathogenicrs118192194GRCh37Chr 20, 62078122: 62078122
33KCNQ2NM_ 172107.3(KCNQ2): c.387+1G> TSNVPathogenicrs118192195GRCh37Chr 20, 62078099: 62078099
34KCNQ2NM_ 172107.3(KCNQ2): c.388-2_ 388delAGGdeletionPathogenicrs118192196GRCh37Chr 20, 62076717: 62076719
35KCNQ2NM_ 172107.3(KCNQ2): c.585dupT (p.Ala196Cysfs)duplicationPathogenicrs118192198GRCh37Chr 20, 62076117: 62076117
36KCNQ2NM_ 172107.3(KCNQ2): c.587C> T (p.Ala196Val)SNVPathogenicrs118192199GRCh37Chr 20, 62076115: 62076115
37KCNQ2NM_ 172107.3(KCNQ2): c.622A> G (p.Met208Val)SNVPathogenicrs118192201GRCh37Chr 20, 62076080: 62076080
38KCNQ2NM_ 172107.3(KCNQ2): c.635A> G (p.Asp212Gly)SNVPathogenicrs118192202GRCh37Chr 20, 62076067: 62076067
39KCNQ2NM_ 172107.3(KCNQ2): c.63_ 66delGGTG (p.Val22Alafs)deletionPathogenicrs118192187GRCh37Chr 20, 62103751: 62103754
40KCNQ2NM_ 172107.3(KCNQ2): c.684C> A (p.His228Gln)SNVPathogenicrs118192204GRCh37Chr 20, 62076018: 62076018
41KCNQ2NM_ 172107.3(KCNQ2): c.727C> T (p.Leu243Phe)SNVPathogenicrs118192205GRCh37Chr 20, 62073848: 62073848
42KCNQ2NM_ 172107.3(KCNQ2): c.740C> A (p.Ser247Ter)SNVPathogenicrs74315392GRCh37Chr 20, 62073835: 62073835
43KCNQ2NM_ 172107.3(KCNQ2): c.749T> G (p.Val250Gly)SNVPathogenicrs118192206GRCh37Chr 20, 62073826: 62073826
44KCNQ2NM_ 172107.3(KCNQ2): c.773A> G (p.Asn258Ser)SNVPathogenicrs118192207GRCh37Chr 20, 62073802: 62073802
45KCNQ2NM_ 172107.3(KCNQ2): c.807G> A (p.Trp269Ter)SNVPathogenicrs118192208GRCh37Chr 20, 62073768: 62073768
46KCNQ2NM_ 172107.3(KCNQ2): c.812G> T (p.Gly271Val)SNVPathogenicrs118192209GRCh37Chr 20, 62073763: 62073763
47KCNQ2NM_ 172107.3(KCNQ2): c.847_ 848insGT (p.Lys283Serfs)insertionPathogenicrs118192210GRCh37Chr 20, 62071030: 62071031
48KCNQ2NM_ 172107.3(KCNQ2): c.881C> G (p.Ala294Gly)SNVPathogenicrs118192211GRCh37Chr 20, 62070997: 62070997
49KCNQ2NM_ 172107.3(KCNQ2): c.967C> T (p.Gln323Ter)SNVPathogenicrs118192214GRCh37Chr 20, 62070034: 62070034
50KCNQ2NM_ 172107.3(KCNQ2): c.998G> A (p.Arg333Gln)SNVPathogenic/ Likely pathogenicrs118192216GRCh37Chr 20, 62070003: 62070003
51KCNQ2NM_ 172107.3(KCNQ2): c.296+1G> ASNVPathogenicrs118192190GRCh37Chr 20, 62103520: 62103520
52KCNQ2NM_ 172107.3(KCNQ2): c.1302-1G> CSNVPathogenicrs118192225GRCh37Chr 20, 62046480: 62046480
53KCNQ2NM_ 172107.3(KCNQ2): c.1764-2A> GSNVPathogenicrs118192238GRCh37Chr 20, 62039891: 62039891
54KCNQ2NM_ 172107.3(KCNQ2): c.1764-6C> ASNVPathogenicrs118192239GRCh37Chr 20, 62039895: 62039895
55KCNQ2NM_ 172107.3(KCNQ2): c.1148+2T> GSNVPathogenicrs118192221GRCh37Chr 20, 62062691: 62062691
56KCNQ2NM_ 172107.3(KCNQ2): c.775G> T (p.Asp259Tyr)SNVPathogenicrs777257591GRCh38Chr 20, 63442447: 63442447
57KCNQ2NM_ 172107.3(KCNQ2): c.319C> T (p.Leu107Phe)SNVPathogenicrs864321712GRCh37Chr 20, 62078168: 62078168
58KCNQ2NM_ 172107.3(KCNQ2): c.1639C> G (p.Arg547Gly)SNVLikely pathogenicrs796052650GRCh38Chr 20, 63413574: 63413574
59KCNQ2NM_ 172109.2(KCNQ2): c.1120T> C (p.Tyr374His)SNVPathogenicrs886042605GRCh37Chr 20, 62065160: 62065160
60KCNQ2NM_ 172107.3(KCNQ2): c.(?_ -177)_ 690+?deldeletionPathogenicGRCh38Chr 20, 63444659: 63472640
61KCNQ2NM_ 172107.2: c.1-?c.993+?deldeletionPathogenic
62KCNQ2NM_ 172107.3(KCNQ2): c.340A> G (p.Thr114Ala)SNVPathogenicrs1057516076GRCh38Chr 20, 63446794: 63446794
63KCNQ2NM_ 172107.3(KCNQ2): c.460T> G (p.Tyr154Asp)SNVPathogenicrs1057516078GRCh37Chr 20, 62076645: 62076645
64KCNQ2NM_ 172107.2(KCNQ2): c.297-?_ 1247+?deldeletionPathogenic
65KCNQ2NM_ 172107.3(KCNQ2): c.475G> A (p.Gly159Arg)SNVPathogenicrs1057516080GRCh37Chr 20, 62076630: 62076630
66KCNQ2NM_ 172107.3(KCNQ2): c.476G> A (p.Gly159Glu)SNVPathogenicrs1057516081GRCh38Chr 20, 63445276: 63445276
67KCNQ2NM_ 172107.2(KCNQ2): c.388-682_ 1118+?deldeletionPathogenic
68KCNQ2NM_ 172107.2(KCNQ2): c.388-?_ 1301+?deldeletionPathogenic
69KCNQ2NM_ 172107.3(KCNQ2): c.592_ 594delCGGinsA (p.Arg198Lysfs)indelPathogenicrs1057516084GRCh37Chr 20, 62076108: 62076110
70KCNQ2NM_ 172107.3(KCNQ2): c.649A> G (p.Thr217Ala)SNVPathogenicrs1057516089GRCh38Chr 20, 63444700: 63444700
71KCNQ2NM_ 172107.3(KCNQ2): c.650C> A (p.Thr217Asn)SNVPathogenicrs1057516090GRCh37Chr 20, 62076052: 62076052
72KCNQ2NM_ 172107.3(KCNQ2): c.928-1G> CSNVPathogenicrs1057516102GRCh37Chr 20, 62070074: 62070074
73KCNQ2NM_ 172107.3(KCNQ2): c.1030T> C (p.Trp344Arg)SNVPathogenicrs1057516105GRCh37Chr 20, 62065250: 62065250
74KCNQ2NM_ 172107.3(KCNQ2): c.1051C> G (p.Leu351Val)SNVPathogenicrs1057516106GRCh37Chr 20, 62065229: 62065229
75KCNQ2NM_ 172107.3(KCNQ2): c.1051C> T (p.Leu351Phe)SNVPathogenicrs1057516106GRCh37Chr 20, 62065229: 62065229
76KCNQ2NM_ 172107.3(KCNQ2): c.1054T> C (p.Ser352Pro)SNVPathogenicrs1057516108GRCh37Chr 20, 62065226: 62065226
77KCNQ2NM_ 172107.3(KCNQ2): c.1073C> T (p.Ser358Phe)SNVPathogenicrs1057516110GRCh37Chr 20, 62065207: 62065207
78KCNQ2NM_ 172107.3(KCNQ2): c.1085A> G (p.Tyr362Cys)SNVPathogenicrs1057516111GRCh37Chr 20, 62065195: 62065195
79KCNQ2NM_ 172107.3(KCNQ2): c.1118+3A> GSNVPathogenicrs1057516112GRCh37Chr 20, 62065159: 62065159
80KCNQ2NM_ 172107.3(KCNQ2): c.1126delA (p.Thr376Leufs)deletionPathogenicrs1057516113GRCh38Chr 20, 63431362: 63431362
81KCNQ2NM_ 172107.2(KCNQ2): c.1119-?_ *382deldeletionPathogenic
82KCNQ2NM_ 172107.3(KCNQ2): c.1195_ 1196delAG (p.Ser399Terfs)deletionPathogenicrs1057516114GRCh38Chr 20, 63428388: 63428389
83KCNQ2NM_ 172107.3(KCNQ2): c.1231_ 1233delCCG (p.Pro411del)deletionPathogenicrs1060499544GRCh38Chr 20, 63424191: 63424193
84KCNQ2NM_ 172107.3(KCNQ2): c.1247+1G> ASNVPathogenicrs1057516115GRCh38Chr 20, 63424176: 63424176
85KCNQ2NM_ 172107.3(KCNQ2): c.1248-?_ *(455_ ?)deldeletionPathogenicGRCh37Chr 20, 62037542: 62051025
86KCNQ2NM_ 172107.3(KCNQ2): c.1418_ 1419delTC (p.Leu473Argfs)deletionPathogenicrs1057516117GRCh37Chr 20, 62046362: 62046363
87KCNQ2NC_ 000020.11: g.(?_ 63413450)_ (63415126_ ?)deldeletionPathogenic
88KCNQ2NM_ 172107.3(KCNQ2): c.1609A> T (p.Lys537Ter)SNVPathogenicrs1057516119GRCh37Chr 20, 62045463: 62045463
89KCNQ2NM_ 172107.3(KCNQ2): c.1631+1G> ASNVPathogenicrs1057516121GRCh37Chr 20, 62045440: 62045440
90KCNQ2NM_ 172107.3(KCNQ2): c.1732A> G (p.Met578Val)SNVPathogenic/ Likely pathogenicrs1057516123GRCh38Chr 20, 63413481: 63413481
91KCNQ2NM_ 172107.3(KCNQ2): c.1764-?_ *(455_ ?)deldeletionPathogenicGRCh37Chr 20, 62037542: 62039889
92KCNQ2NM_ 172107.3(KCNQ2): c.1783C> T (p.Arg595Trp)SNVPathogenicrs1057516124GRCh37Chr 20, 62039870: 62039870
93KCNQ2NM_ 172107.3(KCNQ2): c.1856_ 1886del31 (p.Met619Argfs)deletionPathogenicrs1057516125GRCh37Chr 20, 62039767: 62039797
94KCNQ2NM_ 172107.3(KCNQ2): c.2318dupG (p.Cys774Leufs)duplicationPathogenicGRCh37Chr 20, 62038298: 62038298
95KCNQ2NM_ 172107.3(KCNQ2): c.2599_ 2603dupTGGGC (p.Arg871Glyfs)duplicationPathogenicrs1057516126GRCh38Chr 20, 63406660: 63406664
96KCNQ2NM_ 172107.3(KCNQ2): c.1569_ 1581delCCCCTGCGAGTTT (p.Cys523Trpfs)deletionPathogenicrs1057519016GRCh38Chr 20, 63414138: 63414150
97KCNQ2NM_ 172107.3(KCNQ2): c.1680_ 1684dupGCCCT (p.Tyr562Cysfs)duplicationPathogenicrs118192231GRCh37Chr 20, 62044882: 62044886
98KCNQ2NM_ 172107.2: c.(1228_ 1230)del12deletionPathogenic
99KCNQ2NM_ 172107.3(KCNQ2): c.869G> A (p.Gly290Asp)SNVPathogenicrs397514582GRCh37Chr 20, 62071009: 62071009
100KCNQ2NC_ 000020.10: g.62015806_ 62064474del48669deletionPathogenicGRCh37Chr 20, 62015806: 62064474
101KCNQ2NM_ 172107.3(KCNQ2): c.851A> G (p.Tyr284Cys)SNVPathogenicrs28939683GRCh37Chr 20, 62071027: 62071027
102KCNQ2NM_ 172107.3(KCNQ2): c.916G> A (p.Ala306Thr)SNVPathogenicrs74315390GRCh37Chr 20, 62070962: 62070962
103KCNQ2KCNQ2, 1-BP DEL, 1846TdeletionPathogenic
104KCNQ2NM_ 172107.3(KCNQ2): c.640C> T (p.Arg214Trp)SNVPathogenic/ Likely pathogenicrs28939684GRCh37Chr 20, 62076062: 62076062
105KCNQ2NM_ 172107.3(KCNQ2): c.619C> T (p.Arg207Trp)SNVPathogenicrs74315391GRCh37Chr 20, 62076083: 62076083
106KCNQ2KCNQ2, 10-BP DEL/1-BP INS, NT761indelPathogenic
107KCNQ2NM_ 172107.3(KCNQ2): c.1662G> T (p.Lys554Asn)SNVPathogenicrs267607198GRCh37Chr 20, 62044904: 62044904
108KCNQ2NM_ 172107.3(KCNQ2): c.2127delT (p.Val710Serfs)deletionPathogenicrs118192244GRCh37Chr 20, 62038489: 62038489

Expression for genes affiliated with Seizures, Benign Neonatal, 1

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

Pathways for genes affiliated with Seizures, Benign Neonatal, 1

About this section

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

About this section

Sources for Seizures, Benign Neonatal, 1

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet