BFNS1
MCID: SZR022
MIFTS: 42

Seizures, Benign Familial Neonatal, 1 (BFNS1)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Seizures, Benign Familial Neonatal, 1

MalaCards integrated aliases for Seizures, Benign Familial Neonatal, 1:

Name: Seizures, Benign Familial Neonatal, 1 57 70
Myokymia 57 29 13 6
Benign Familial Neonatal Seizures 1 29 6
Myokymia with Neonatal Epilepsy 72 70
Seizures, Benign Neonatal, 1 57 29
Bfns1 57 72
Convulsions Benign Familial Neonatal 1 with Myokymia 72
Epilepsy, Benign Neonatal, 1, and/or Myokymia 6
Benign Neonatal Epilepsy 1 and/or Myokymia 72
Benign Neonatal Epilepsy 1 with Myokymia 72
Benign Neonatal Epilepsy Atypical Severe 72
Benign Familial Neonatal Convulsions 1 72
Seizures, Benign Familial Neonatal 1 72
Seizures, Benign Neonatal, Type 1 39
Benign Neonatal Epilepsy 1 72
Bfnc/myokymia Syndrome 72
Myokymia Isolated 72
Bfnc1 72
Ebn1 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset of seizures at 2-8 days of life
most remit by 6 weeks (1-6 months)
some patients may have isolated myokymia
genetic heterogeneity (see ebn2 )
an autosomal recessive form has been reported


HPO:

31
seizures, benign familial neonatal, 1:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course neonatal onset


Classifications:



External Ids:

OMIM® 57 121200
OMIM Phenotypic Series 57 PS121200
UMLS 70 C2931109 C3149074

Summaries for Seizures, Benign Familial Neonatal, 1

UniProtKB/Swiss-Prot : 72 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 Familial Neonatal, 1, also known as myokymia, is related to dyskinesia, familial, with facial myokymia and episodic ataxia, type 1, and has symptoms including myokymia An important gene associated with Seizures, Benign Familial Neonatal, 1 is KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2). Affiliated tissues include brain, tongue and smooth muscle, and related phenotypes are global developmental delay and motor delay

OMIM® : 57 Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age. The disorder is distinguished from benign familial infantile seizures (BFIS1; 601764) by an earlier age at onset. Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. (121200) (Updated 20-May-2021)

Related Diseases for Seizures, Benign Familial Neonatal, 1

Diseases in the Benign Neonatal Seizures family:

Seizures, Benign Familial Neonatal, 1 Seizures, Benign Familial Neonatal, 2
Seizures, Benign Familial Neonatal, Autosomal Recessive Seizures, Benign Familial Neonatal, 3

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

(show top 50) (show all 186)
# Related Disease Score Top Affiliating Genes
1 dyskinesia, familial, with facial myokymia 11.7
2 episodic ataxia, type 1 11.6
3 neuromyotonia and axonal neuropathy, autosomal recessive 11.5
4 myokymia with neonatal epilepsy 11.3
5 episodic ataxia, type 3 11.2
6 episodic ataxia 11.1
7 spastic tetraplegia and axial hypotonia, progressive 11.0
8 isolated facial myokymia 11.0
9 seizures, benign familial neonatal, 2 10.9
10 seizures, benign familial infantile, 1 10.9
11 benign neonatal seizures 10.9
12 blepharospasm 10.9
13 spinocerebellar ataxia 14 10.9
14 episodic ataxia, type 8 10.9
15 morvan's fibrillary chorea 10.9
16 ataxia and polyneuropathy, adult-onset 10.4
17 myotonia 10.2
18 tremor 10.2
19 neuropathy 10.2
20 guillain-barre syndrome 10.1
21 hemifacial spasm, familial 10.1
22 movement disease 10.1
23 hemifacial spasm 10.1
24 myoclonus 10.1
25 multiple sclerosis 10.1
26 nasopharyngeal carcinoma 10.1
27 peripheral nervous system disease 10.1
28 triiodothyronine receptor auxiliary protein 10.0
29 glioma susceptibility 1 10.0
30 migraine with or without aura 1 10.0
31 ptosis 10.0
32 polyneuropathy 10.0
33 facial paralysis 10.0
34 autosomal dominant cerebellar ataxia 10.0
35 malignant astrocytoma 10.0
36 demyelinating disease 10.0
37 plexopathy 10.0
38 pathologic nystagmus 10.0
39 glioma 10.0
40 glial tumor 10.0
41 chorea, childhood-onset, with psychomotor retardation 10.0
42 hereditary ataxia 10.0
43 choreatic disease 10.0
44 motor neuron disease 10.0
45 polyradiculoneuropathy 10.0
46 dystonia 10.0
47 adcy5 dyskinesia 10.0
48 discrimination, two-point, reduction in 9.9
49 electroencephalogram, low-voltage 9.9
50 immunoglobulin e concentration, serum 9.9

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



Diseases related to Seizures, Benign Familial Neonatal, 1

Symptoms & Phenotypes for Seizures, Benign Familial Neonatal, 1

Human phenotypes related to Seizures, Benign Familial Neonatal, 1:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 occasional (7.5%) HP:0001263
2 motor delay 31 occasional (7.5%) HP:0001270
3 febrile seizure (within the age range of 3 months to 6 years) 31 occasional (7.5%) HP:0002373
4 myokymia 31 HP:0002411
5 focal clonic seizure 31 HP:0002266
6 bilateral tonic-clonic seizure 31 HP:0002069

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
generalized tonic-clonic seizures
myokymia
seizures, afebrile
focal clonic seizures
start with tonic posturing
more
Respiratory:
apnea during seizures

Clinical features from OMIM®:

121200 (Updated 20-May-2021)

UMLS symptoms related to Seizures, Benign Familial Neonatal, 1:


myokymia

Drugs & Therapeutics for Seizures, Benign Familial Neonatal, 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inherited Myokymia: A Clinical and Genetic Study of a Family Unknown status NCT01250704

Search NIH Clinical Center for Seizures, Benign Familial Neonatal, 1

Genetic Tests for Seizures, Benign Familial Neonatal, 1

Genetic tests related to Seizures, Benign Familial Neonatal, 1:

# Genetic test Affiliating Genes
1 Benign Familial Neonatal Seizures 1 29 KCNQ2
2 Myokymia 29
3 Seizures, Benign Neonatal, 1 29

Anatomical Context for Seizures, Benign Familial Neonatal, 1

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

40
Brain, Tongue, Smooth Muscle, Eye, Breast, Heart, Kidney

Publications for Seizures, Benign Familial Neonatal, 1

Articles related to Seizures, Benign Familial Neonatal, 1:

(show top 50) (show all 675)
# Title Authors PMID Year
1
Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. 61 57 6
11572947 2001
2
Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. 6 57
17675531 2007
3
Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations. 57 6
17872363 2007
4
Andreas Rett and benign familial neonatal convulsions revisited. 6 57
16966552 2006
5
Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC). 6 57
16235065 2005
6
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. 6 57
9425895 1998
7
A potassium channel mutation in neonatal human epilepsy. 57 6
9430594 1998
8
Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20. 57 6
7980108 1994
9
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 61 6
23621294 2013
10
Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation. 6 61
22169383 2012
11
Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2. 6 61
16691402 2006
12
Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 6
25959266 2015
13
Functional analysis of potassium channels in Kv7.2 G271V mutant causing early onset familial epilepsy. 6
25960349 2015
14
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. 6
25046240 2015
15
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 6
25982755 2015
16
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
17
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A. 6
24375629 2014
18
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. 6
24318194 2014
19
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 6
23708187 2013
20
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 6
23360469 2013
21
Novel KCNQ2 mutation in a large Emirati family with benign familial neonatal seizures. 6
23290024 2013
22
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. 6
22275249 2012
23
A novel degradation signal derived from distal C-terminal frameshift mutations of KCNQ2 protein which cause neonatal epilepsy. 6
21937445 2011
24
Temperature and pharmacological rescue of a folding-defective, dominant-negative KV 7.2 mutation associated with neonatal seizures. 6
21913284 2011
25
The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions. 6
20119593 2010
26
Novel mutation in KCNQ2 causing benign familial neonatal seizures. 6
19818940 2009
27
Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions. 6
19559753 2009
28
Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures. 57
19822871 2009
29
Neutralization of a unique, negatively-charged residue in the voltage sensor of K V 7.2 subunits in a sporadic case of benign familial neonatal seizures. 6
19344764 2009
30
Genetics of epilepsy syndromes starting in the first year of life. 57
19153375 2009
31
Calmodulin regulates the trafficking of KCNQ2 potassium channels. 6
17993630 2008
32
Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy. 6
18006581 2008
33
A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC). 6
18246739 2007
34
Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions. 6
17475800 2007
35
Benign familial neonatal convulsions: always benign? 6
17129708 2007
36
Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy. 6
16916607 2006
37
A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years. 6
16686649 2006
38
Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions. 6
16260777 2006
39
Identification by mass spectrometry and functional characterization of two phosphorylation sites of KCNQ2/KCNQ3 channels. 6
16319223 2005
40
De novo KCNQ2 mutations in patients with benign neonatal seizures. 6
15596769 2004
41
A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. 6
15249611 2004
42
A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family. 6
15178210 2004
43
Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes. 6
15030501 2004
44
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction. 6
14985406 2004
45
[A novel mutation of KCNQ2 gene in a Chinese family with benign familial neonatal convulsions]. 6
14669214 2003
46
KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. 6
14534157 2003
47
A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes. 6
12847176 2003
48
AKAP150 signaling complex promotes suppression of the M-current by muscarinic agonists. 6
12754513 2003
49
Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels. 6
11784811 2002
50
Ion channel variation causes epilepsies. 6
11690625 2001

Variations for Seizures, Benign Familial Neonatal, 1

ClinVar genetic disease variations for Seizures, Benign Familial Neonatal, 1:

6 (show top 50) (show all 219)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNQ2 NM_172107.4(KCNQ2):c.1764-2A>G SNV Pathogenic 21814 rs118192238 GRCh37: 20:62039891-62039891
GRCh38: 20:63408538-63408538
2 KCNQ2 KCNQ2, 1-BP DEL, 1846T Deletion Pathogenic 7384 GRCh37:
GRCh38:
3 KCNQ2 NM_172107.4(KCNQ2):c.851A>G (p.Tyr284Cys) SNV Pathogenic 7381 rs28939683 GRCh37: 20:62071027-62071027
GRCh38: 20:63439674-63439674
4 KCNQ2 NM_172107.4(KCNQ2):c.1764-6C>A SNV Pathogenic 21815 rs118192239 GRCh37: 20:62039895-62039895
GRCh38: 20:63408542-63408542
5 KCNQ2 nsv1197577 Deletion Pathogenic 42118 GRCh37: 20:62015806-62064474
GRCh38: 20:63384457-63433124
6 KCNQ2 NM_172107.2:c.1-?c.993+?del Deletion Pathogenic 369740 GRCh37:
GRCh38:
7 KCNQ2 NM_172107.4(KCNQ2):c.340A>G (p.Thr114Ala) SNV Pathogenic 369741 rs1057516076 GRCh37: 20:62078147-62078147
GRCh38: 20:63446794-63446794
8 KCNQ2 NM_172107.4(KCNQ2):c.460T>G (p.Tyr154Asp) SNV Pathogenic 369743 rs1057516078 GRCh37: 20:62076645-62076645
GRCh38: 20:63445292-63445292
9 KCNQ2 NM_172107.2(KCNQ2):c.297-?_1247+?del Deletion Pathogenic 369745 GRCh37:
GRCh38:
10 KCNQ2 NM_172107.4(KCNQ2):c.475G>A (p.Gly159Arg) SNV Pathogenic 369746 rs1057516080 GRCh37: 20:62076630-62076630
GRCh38: 20:63445277-63445277
11 KCNQ2 NM_172107.4(KCNQ2):c.476G>A (p.Gly159Glu) SNV Pathogenic 369747 rs1057516081 GRCh37: 20:62076629-62076629
GRCh38: 20:63445276-63445276
12 KCNQ2 NM_172107.2(KCNQ2):c.388-682_1118+?del Deletion Pathogenic 369749 GRCh37:
GRCh38:
13 KCNQ2 NM_172107.2(KCNQ2):c.388-?_1301+?del Deletion Pathogenic 369750 GRCh37:
GRCh38:
14 KCNQ2 NM_172107.4(KCNQ2):c.650C>A (p.Thr217Asn) SNV Pathogenic 369758 rs1057516090 GRCh37: 20:62076052-62076052
GRCh38: 20:63444699-63444699
15 KCNQ2 NM_172107.4(KCNQ2):c.928-1G>C SNV Pathogenic 369773 rs1057516102 GRCh37: 20:62070074-62070074
GRCh38: 20:63438721-63438721
16 KCNQ2 NM_172107.4(KCNQ2):c.1030T>C (p.Trp344Arg) SNV Pathogenic 369777 rs1057516105 GRCh37: 20:62065250-62065250
GRCh38: 20:63433897-63433897
17 KCNQ2 NM_172107.4(KCNQ2):c.1051C>G (p.Leu351Val) SNV Pathogenic 369778 rs1057516106 GRCh37: 20:62065229-62065229
GRCh38: 20:63433876-63433876
18 KCNQ2 NM_172107.4(KCNQ2):c.1051C>T (p.Leu351Phe) SNV Pathogenic 369779 rs1057516106 GRCh37: 20:62065229-62065229
GRCh38: 20:63433876-63433876
19 KCNQ2 NM_172107.4(KCNQ2):c.1054T>C (p.Ser352Pro) SNV Pathogenic 369781 rs1057516108 GRCh37: 20:62065226-62065226
GRCh38: 20:63433873-63433873
20 KCNQ2 NM_172107.4(KCNQ2):c.1073C>T (p.Ser358Phe) SNV Pathogenic 369783 rs1057516110 GRCh37: 20:62065207-62065207
GRCh38: 20:63433854-63433854
21 KCNQ2 NM_172107.4(KCNQ2):c.1085A>G (p.Tyr362Cys) SNV Pathogenic 369784 rs1057516111 GRCh37: 20:62065195-62065195
GRCh38: 20:63433842-63433842
22 KCNQ2 NM_172107.4(KCNQ2):c.1118+3A>G SNV Pathogenic 369785 rs1057516112 GRCh37: 20:62065159-62065159
GRCh38: 20:63433806-63433806
23 KCNQ2 NM_172107.4(KCNQ2):c.1126del (p.Thr376fs) Deletion Pathogenic 369786 rs1057516113 GRCh37: 20:62062715-62062715
GRCh38: 20:63431362-63431362
24 KCNQ2 NM_172107.2(KCNQ2):c.1119-?_*382del Deletion Pathogenic 369787 GRCh37:
GRCh38:
25 KCNQ2 NM_172107.4(KCNQ2):c.1193_1194AG[1] (p.Lys398_Ser399insTer) Microsatellite Pathogenic 369788 rs1057516114 GRCh37: 20:62059741-62059742
GRCh38: 20:63428388-63428389
26 KCNQ2 NM_172107.4(KCNQ2):c.1247+1G>A SNV Pathogenic 369791 rs1057516115 GRCh37: 20:62055529-62055529
GRCh38: 20:63424176-63424176
27 KCNQ2 NM_172107.4(KCNQ2):c.1418_1419del (p.Leu473fs) Deletion Pathogenic 369795 rs1057516117 GRCh37: 20:62046362-62046363
GRCh38: 20:63415009-63415010
28 KCNQ2 NC_000020.11:g.(?_63413450)_(63415126_?)del Deletion Pathogenic 369796 GRCh37:
GRCh38: 20:63413450-63415126
29 KCNQ2 NM_172107.4(KCNQ2):c.1609A>T (p.Lys537Ter) SNV Pathogenic 369799 rs1555853983 GRCh37: 20:62045463-62045463
GRCh38: 20:63414110-63414110
30 KCNQ2 NM_172107.4(KCNQ2):c.1783C>T (p.Arg595Trp) SNV Pathogenic 369811 rs1555851550 GRCh37: 20:62039870-62039870
GRCh38: 20:63408517-63408517
31 KCNQ2 NM_172107.4(KCNQ2):c.1856_1886del (p.Met619fs) Deletion Pathogenic 369812 rs1555851445 GRCh37: 20:62039767-62039797
GRCh38: 20:63408414-63408444
32 KCNQ2 NM_172107.4(KCNQ2):c.2378_2391del (p.Val793fs) Deletion Pathogenic 520409 rs1555850403 GRCh37: 20:62038225-62038238
GRCh38: 20:63406872-63406885
33 KCNQ2 NM_172107.2:c.(1228_1230)del12 Deletion Pathogenic 39096 GRCh37:
GRCh38:
34 KCNQ2 NM_172107.4(KCNQ2):c.1016T>G (p.Leu339Arg) SNV Pathogenic 21755 rs118192217 GRCh37: 20:62069985-62069985
GRCh38: 20:63438632-63438632
35 KCNQ2 NM_172107.4(KCNQ2):c.1057C>G (p.Arg353Gly) SNV Pathogenic 21756 rs118192218 GRCh37: 20:62065223-62065223
GRCh38: 20:63433870-63433870
36 KCNQ2 NM_172107.4(KCNQ2):c.1217+2T>G SNV Pathogenic 21760 rs118192223 GRCh37: 20:62059718-62059718
GRCh38: 20:63428365-63428365
37 KCNQ2 NM_172107.4(KCNQ2):c.1288C>T (p.Pro430Ser) SNV Pathogenic 21761 rs118192224 GRCh37: 20:62050985-62050985
GRCh38: 20:63419632-63419632
38 KCNQ2 NM_172107.4(KCNQ2):c.1569_1581del (p.Cys523fs) Deletion Pathogenic 374999 rs1555854036 GRCh37: 20:62045491-62045503
GRCh38: 20:63414138-63414150
39 KCNQ2 NM_172107.4(KCNQ2):c.1764A>T (p.Arg588Ser) SNV Pathogenic 21770 rs118192237 GRCh37: 20:62039889-62039889
GRCh38: 20:63408536-63408536
40 KCNQ2 NM_172107.4(KCNQ2):c.1910T>G (p.Leu637Arg) SNV Pathogenic 21771 rs118192240 GRCh37: 20:62038706-62038706
GRCh38: 20:63407353-63407353
41 KCNQ2 NM_172107.4(KCNQ2):c.1930del (p.Tyr644fs) Deletion Pathogenic 21772 rs118192241 GRCh37: 20:62038686-62038686
GRCh38: 20:63407333-63407333
42 KCNQ2 NM_172107.4(KCNQ2):c.1956del (p.Thr653fs) Deletion Pathogenic 21773 rs118192242 GRCh37: 20:62038660-62038660
GRCh38: 20:63407307-63407307
43 KCNQ2 NM_172107.4(KCNQ2):c.2015del (p.Ser672fs) Deletion Pathogenic 21775 rs118192243 GRCh37: 20:62038601-62038601
GRCh38: 20:63407248-63407248
44 KCNQ2 NM_172107.4(KCNQ2):c.232del (p.Gln78fs) Deletion Pathogenic 21778 rs118192189 GRCh37: 20:62103585-62103585
GRCh38: 20:63472232-63472232
45 KCNQ2 NM_172107.4(KCNQ2):c.356A>G (p.Glu119Gly) SNV Pathogenic 21786 rs118192193 GRCh37: 20:62078131-62078131
GRCh38: 20:63446778-63446778
46 KCNQ2 NM_172107.4(KCNQ2):c.387+1G>T SNV Pathogenic 21788 rs118192195 GRCh37: 20:62078099-62078099
GRCh38: 20:63446746-63446746
47 KCNQ2 NM_172107.4(KCNQ2):c.388-1_389del Deletion Pathogenic 21789 rs118192196 GRCh37: 20:62076716-62076718
GRCh38: 20:63445363-63445365
48 KCNQ2 NM_172107.4(KCNQ2):c.635A>G (p.Asp212Gly) SNV Pathogenic 21794 rs118192202 GRCh37: 20:62076067-62076067
GRCh38: 20:63444714-63444714
49 KCNQ2 NM_172107.4(KCNQ2):c.65_68del (p.Val22fs) Deletion Pathogenic 21796 rs118192187 GRCh37: 20:62103749-62103752
GRCh38: 20:63472396-63472399
50 KCNQ2 NM_172107.4(KCNQ2):c.727C>T (p.Leu243Phe) SNV Pathogenic 21798 rs118192205 GRCh37: 20:62073848-62073848
GRCh38: 20:63442495-63442495

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

72 (show all 22)
# Symbol AA change Variation ID SNP ID
1 KCNQ2 p.Arg214Trp VAR_010929 rs28939684
2 KCNQ2 p.Tyr284Cys VAR_010930 rs28939683
3 KCNQ2 p.Ala306Thr VAR_010931 rs74315390
4 KCNQ2 p.Arg207Trp VAR_026987 rs74315391
5 KCNQ2 p.Met208Val VAR_026988 rs118192201
6 KCNQ2 p.His228Gln VAR_026989 rs118192204
7 KCNQ2 p.Leu243Phe VAR_026990 rs118192205
8 KCNQ2 p.Arg333Gln VAR_026992 rs118192216
9 KCNQ2 p.Lys554Asn VAR_026993 rs267607198
10 KCNQ2 p.Thr114Ala VAR_078658 rs105751607
11 KCNQ2 p.Tyr154Asp VAR_078659 rs105751607
12 KCNQ2 p.Gly159Glu VAR_078660 rs105751608
13 KCNQ2 p.Gly159Arg VAR_078661 rs105751608
14 KCNQ2 p.Ala196Val VAR_078662 rs118192199
15 KCNQ2 p.Arg213Gln VAR_078666 rs397514581
16 KCNQ2 p.Thr217Ala VAR_078668 rs105751608
17 KCNQ2 p.Arg353Gly VAR_078671 rs118192218
18 KCNQ2 p.Ser358Phe VAR_078672 rs105751611
19 KCNQ2 p.Arg547Trp VAR_078674 rs796052650
20 KCNQ2 p.Met578Val VAR_078677 rs105751612
21 KCNQ2 p.Arg588Ser VAR_078679 rs118192237
22 KCNQ2 p.Leu637Arg VAR_078680 rs118192240

Expression for Seizures, Benign Familial Neonatal, 1

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

Pathways for Seizures, Benign Familial Neonatal, 1

GO Terms for Seizures, Benign Familial Neonatal, 1

Sources for Seizures, Benign Familial Neonatal, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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