BFNS2
MCID: SZR023
MIFTS: 36

Seizures, Benign Familial Neonatal, 2 (BFNS2)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Seizures, Benign Familial Neonatal, 2

MalaCards integrated aliases for Seizures, Benign Familial Neonatal, 2:

Name: Seizures, Benign Familial Neonatal, 2 57
Benign Familial Neonatal Seizures 2 29 6
Seizures, Benign Neonatal, 2 57 29
Bfns2 57 73
Bfnc2 57 73
Convulsions, Benign Familial Neonatal, 2; Bfnc2 57
Seizures, Neonatal, Benign, Familial, Type 2 39
Benign Familial Neonatal Convulsions Type 2 73
Convulsions, Benign Familial Neonatal, 2 57
Seizures, Benign Familial Neonatal 2 73
Seizures, Benign Neonatal, Type 2 13
Epilepsy, Benign Neonatal, 2 71
Benign Neonatal Epilepsy 2 73
Ebn2 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset of seizures at 2-8 days of life
most remit by 2 months


HPO:

31
seizures, benign familial neonatal, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 121201
OMIM Phenotypic Series 57 PS121200
MeSH 44 D020936
MedGen 41 C1852581
SNOMED-CT via HPO 68 263681008 54200006
UMLS 71 C1852581

Summaries for Seizures, Benign Familial Neonatal, 2

OMIM® : 57 Benign familial neonatal seizures-2 is an autosomal dominant neurologic condition characterized by onset of clonic or tonic-clonic seizures in the first few days of life. Seizures tend to last for about a minute, may occur several times a day, and are responsive to medication. Almost all patients have full remission within the first months of life, although some rare patients may have a few seizures later in childhood. EEG, brain imaging, and psychomotor development are usually normal (summary by Fister et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of benign familial neonatal seizures, see BFNS1 (121200). (121201) (Updated 05-Mar-2021)

MalaCards based summary : Seizures, Benign Familial Neonatal, 2, also known as benign familial neonatal seizures 2, is related to epilepsy, idiopathic generalized and benign familial neonatal epilepsy. An important gene associated with Seizures, Benign Familial Neonatal, 2 is KCNQ3 (Potassium Voltage-Gated Channel Subfamily Q Member 3), and among its related pathways/superpathways are Circadian entrainment and Dopamine-DARPP32 Feedback onto cAMP Pathway. Related phenotypes are focal clonic seizure and bilateral tonic-clonic seizure

UniProtKB/Swiss-Prot : 73 Seizures, benign familial neonatal 2: 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. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset.

Related Diseases for Seizures, Benign Familial Neonatal, 2

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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 epilepsy, idiopathic generalized 31.4 KCNQ3 KCNQ2
2 benign familial neonatal epilepsy 31.2 KCNQ3 KCNQ2
3 benign neonatal seizures 29.7 KCNQ3 KCNQ2
4 benign epilepsy with centrotemporal spikes 29.5 KCNQ3 KCNQ2
5 kcnq2-related disorders 9.9 KCNQ3 KCNQ2
6 convulsions benign familial neonatal dominant form 9.9 KCNQ3 KCNQ2
7 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 9.9 KCNQ3 KCNQ2
8 developmental and epileptic encephalopathy 7 9.8 KCNQ3 KCNQ2
9 early onset absence epilepsy 9.8 KCNQ3 KCNQ2
10 epilepsy, nocturnal frontal lobe, 1 9.8 KCNQ3 KCNQ2
11 eastern equine encephalitis 9.8 KCNQ3 KCNQ2
12 infancy electroclinical syndrome 9.8 KCNQ3 KCNQ2
13 electroclinical syndrome 9.8 KCNQ3 KCNQ2
14 adolescence-adult electroclinical syndrome 9.8 KCNQ3 KCNQ2
15 episodic ataxia, type 1 9.8 KCNQ3 KCNQ2
16 episodic ataxia 9.8 KCNQ3 KCNQ2
17 photosensitive epilepsy 9.8 KCNQ3 KCNQ2
18 childhood electroclinical syndrome 9.8 KCNQ3 KCNQ2
19 episodic kinesigenic dyskinesia 1 9.8 KCNQ3 KCNQ2
20 neonatal period electroclinical syndrome 9.8 KCNQ3 KCNQ2
21 unverricht-lundborg syndrome 9.8 KCNQ3 KCNQ2
22 benign familial infantile epilepsy 9.8 KCNQ3 KCNQ2
23 lennox-gastaut syndrome 9.8 KCNQ3 KCNQ2
24 autosomal dominant nocturnal frontal lobe epilepsy 9.8 KCNQ3 KCNQ2
25 early myoclonic encephalopathy 9.8 KCNQ3 KCNQ2
26 epilepsy, myoclonic juvenile 9.8 KCNQ3 KCNQ2
27 generalized epilepsy with febrile seizures plus 9.8 KCNQ3 KCNQ2
28 dravet syndrome 9.8 KCNQ3 KCNQ2
29 long qt syndrome 1 9.7 KCNQ3 KCNQ2
30 long qt syndrome 9.7 KCNQ3 KCNQ2
31 childhood absence epilepsy 9.7 KCNQ3 KCNQ2
32 west syndrome 9.7 KCNQ3 KCNQ2
33 migraine with or without aura 1 9.6 KCNQ3 KCNQ2
34 seizure disorder 9.6 KCNQ3 KCNQ2
35 early infantile epileptic encephalopathy 9.5 KCNQ3 KCNQ2

Graphical network of the top 20 diseases related to Seizures, Benign Familial Neonatal, 2:



Diseases related to Seizures, Benign Familial Neonatal, 2

Symptoms & Phenotypes for Seizures, Benign Familial Neonatal, 2

Human phenotypes related to Seizures, Benign Familial Neonatal, 2:

31
# Description HPO Frequency HPO Source Accession
1 focal clonic seizure 31 HP:0002266
2 bilateral tonic-clonic seizure 31 HP:0002069

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
generalized tonic-clonic seizures
seizures, afebrile
focal clonic seizures
increased risk of seizures in childhood or adulthood (11-16%)
normal psychomotor development

Clinical features from OMIM®:

121201 (Updated 05-Mar-2021)

Drugs & Therapeutics for Seizures, Benign Familial Neonatal, 2

Search Clinical Trials , NIH Clinical Center for Seizures, Benign Familial Neonatal, 2

Genetic Tests for Seizures, Benign Familial Neonatal, 2

Genetic tests related to Seizures, Benign Familial Neonatal, 2:

# Genetic test Affiliating Genes
1 Benign Familial Neonatal Seizures 2 29 KCNQ3
2 Seizures, Benign Neonatal, 2 29

Anatomical Context for Seizures, Benign Familial Neonatal, 2

Publications for Seizures, Benign Familial Neonatal, 2

Articles related to Seizures, Benign Familial Neonatal, 2:

# Title Authors PMID Year
1
Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case. 61 57 6
23146207 2013
2
A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions. 61 6 57
18249525 2008
3
A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions. 61 6 57
10852552 2000
4
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. 57 6
9425900 1998
5
Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity. 57 6
1859177 1991
6
Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. 57
8102508 1993
7
Benign familial neonatal convulsions linked to genetic markers on chromosome 20. 61
2918897 1989

Variations for Seizures, Benign Familial Neonatal, 2

ClinVar genetic disease variations for Seizures, Benign Familial Neonatal, 2:

6 (show top 50) (show all 260)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNQ3 NM_004519.4(KCNQ3):c.929G>T (p.Gly310Val) SNV Pathogenic 7392 rs118192250 8:133187704-133187704 8:132175457-132175457
2 KCNQ3 NM_004519.4(KCNQ3):c.925T>C (p.Trp309Arg) SNV Pathogenic 21415 rs118192249 8:133187708-133187708 8:132175461-132175461
3 KCNQ3 NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) SNV Pathogenic 21417 rs118192251 8:133186542-133186542 8:132174295-132174295
4 KCNQ3 NM_004519.4(KCNQ3):c.895G>A (p.Glu299Lys) SNV Pathogenic 21413 rs118192247 8:133187738-133187738 8:132175491-132175491
5 KCNQ3 NM_004519.4(KCNQ3):c.914A>G (p.Asp305Gly) SNV Pathogenic 21414 rs118192248 8:133187719-133187719 8:132175472-132175472
6 KCNQ3 NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr) SNV Pathogenic 661030 rs1586800133 8:133186580-133186580 8:132174333-132174333
7 KCNQ2 NM_172107.4(KCNQ2):c.939dup (p.Ser314fs) Duplication Pathogenic 21807 rs118192213 20:62070061-62070062 20:63438708-63438709
8 KCNQ3 NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser) SNV Pathogenic 21410 rs118192252 8:133153438-133153438 8:132141191-132141191
9 KCNQ3 NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) SNV Pathogenic 21412 rs118192254 8:133141666-133141666 8:132129419-132129419
10 KCNQ2 NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp) SNV Pathogenic 7389 rs74315392 20:62073835-62073835 20:63442482-63442482
11 KCNQ2 NM_172107.4(KCNQ2):c.1662G>T (p.Lys554Asn) SNV Pathogenic 7388 rs267607198 20:62044904-62044904 20:63413551-63413551
12 KCNQ3 NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) SNV Pathogenic/Likely pathogenic 205963 rs796052676 8:133192493-133192493 8:132180246-132180246
13 KCNQ3 NM_004519.4(KCNQ3):c.689G>A (p.Arg230His) SNV Likely pathogenic 424397 8:133192492-133192492 8:132180245-132180245
14 KCNQ3 NM_004519.4(KCNQ3):c.899T>C (p.Phe300Ser) SNV Likely pathogenic 495233 rs1554627439 8:133187734-133187734 8:132175487-132175487
15 KCNQ3 NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) SNV Conflicting interpretations of pathogenicity 194513 rs147173555 8:133142134-133142134 8:132129887-132129887
16 KCNQ3 NM_004519.4(KCNQ3):c.1216G>A (p.Val406Ile) SNV Uncertain significance 205969 rs144474368 8:133182600-133182600 8:132170353-132170353
17 KCNQ3 NM_004519.4(KCNQ3):c.403G>C (p.Gly135Arg) SNV Uncertain significance 931102 8:133198412-133198412 8:132186165-132186165
18 KCNQ3 NM_004519.4(KCNQ3):c.1226C>G (p.Pro409Arg) SNV Uncertain significance 205970 rs149272208 8:133182590-133182590 8:132170343-132170343
19 KCNQ3 NM_004519.4(KCNQ3):c.2165G>A (p.Arg722Gln) SNV Uncertain significance 361874 rs377725346 8:133141963-133141963 8:132129716-132129716
20 KCNQ3 NM_004519.4(KCNQ3):c.1809A>G (p.Pro603=) SNV Uncertain significance 361877 rs886062691 8:133144502-133144502 8:132132255-132132255
21 KCNQ3 NM_004519.4(KCNQ3):c.1178T>C (p.Ile393Thr) SNV Uncertain significance 570705 rs201814804 8:133182638-133182638 8:132170391-132170391
22 KCNQ3 NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu) SNV Uncertain significance 206003 rs185511111 8:133142243-133142243 8:132129996-132129996
23 KCNQ3 NM_004519.4(KCNQ3):c.1249_1250delinsAT (p.Glu417Met) Indel Uncertain significance 450849 rs1554625699 8:133175727-133175728 8:132163480-132163481
24 KCNQ3 NM_004519.4(KCNQ3):c.680G>A (p.Arg227Gln) SNV Uncertain significance 975970 8:133192501-133192501 8:132180254-132180254
25 KCNQ3 NM_004519.4(KCNQ3):c.-138T>G SNV Uncertain significance 361895 rs868425061 8:133492917-133492917 8:132480670-132480670
26 KCNQ3 NM_004519.4(KCNQ3):c.855C>T (p.Asp285=) SNV Uncertain significance 704047 rs62519577 8:133187778-133187778 8:132175531-132175531
27 KCNQ3 NM_004519.4(KCNQ3):c.337G>A (p.Asp113Asn) SNV Uncertain significance 665904 rs1299548932 8:133492443-133492443 8:132480196-132480196
28 KCNQ3 NM_004519.4(KCNQ3):c.231G>A (p.Gly77=) SNV Uncertain significance 717797 rs1195159317 8:133492549-133492549 8:132480302-132480302
29 KCNQ3 NM_004519.4(KCNQ3):c.2614A>G (p.Ile872Val) SNV Uncertain significance 205995 rs199682667 8:133141514-133141514 8:132129267-132129267
30 KCNQ3 NM_004519.4(KCNQ3):c.-133A>G SNV Uncertain significance 911877 8:133492912-133492912 8:132480665-132480665
31 KCNQ3 NM_004519.4(KCNQ3):c.-206C>T SNV Uncertain significance 911878 8:133492985-133492985 8:132480738-132480738
32 KCNQ3 NM_004519.4(KCNQ3):c.*4816C>T SNV Uncertain significance 911583 8:133136693-133136693 8:132124446-132124446
33 KCNQ3 NM_004519.4(KCNQ3):c.*3665C>T SNV Uncertain significance 911647 8:133137844-133137844 8:132125597-132125597
34 KCNQ3 NM_004519.4(KCNQ3):c.*1962G>A SNV Uncertain significance 911710 8:133139547-133139547 8:132127300-132127300
35 KCNQ3 NM_004519.4(KCNQ3):c.*316T>C SNV Uncertain significance 911779 8:133141193-133141193 8:132128946-132128946
36 KCNQ3 NM_004519.4(KCNQ3):c.*82C>T SNV Uncertain significance 911780 8:133141427-133141427 8:132129180-132129180
37 KCNQ3 NM_004519.4(KCNQ3):c.*75T>C SNV Uncertain significance 911781 8:133141434-133141434 8:132129187-132129187
38 KCNQ3 NM_004519.4(KCNQ3):c.*72C>T SNV Uncertain significance 911782 8:133141437-133141437 8:132129190-132129190
39 KCNQ3 NM_004519.4(KCNQ3):c.*1171C>T SNV Uncertain significance 909606 8:133140338-133140338 8:132128091-132128091
40 KCNQ3 NM_004519.4(KCNQ3):c.*1070T>C SNV Uncertain significance 909607 8:133140439-133140439 8:132128192-132128192
41 KCNQ3 NM_004519.4(KCNQ3):c.*991G>A SNV Uncertain significance 909608 8:133140518-133140518 8:132128271-132128271
42 KCNQ3 NM_004519.4(KCNQ3):c.*838C>G SNV Uncertain significance 909609 8:133140671-133140671 8:132128424-132128424
43 KCNQ3 NM_004519.4(KCNQ3):c.2014A>G (p.Lys672Glu) SNV Uncertain significance 909669 8:133142114-133142114 8:132129867-132129867
44 KCNQ3 NM_004519.4(KCNQ3):c.873A>C (p.Ala291=) SNV Uncertain significance 909731 8:133187760-133187760 8:132175513-132175513
45 KCNQ3 NM_004519.4(KCNQ3):c.848A>T (p.Glu283Val) SNV Uncertain significance 909732 8:133187785-133187785 8:132175538-132175538
46 KCNQ3 NM_004519.4(KCNQ3):c.591C>T (p.Pro197=) SNV Uncertain significance 909734 8:133196501-133196501 8:132184254-132184254
47 KCNQ3 NM_004519.4(KCNQ3):c.*6725A>C SNV Uncertain significance 910303 8:133134784-133134784 8:132122537-132122537
48 KCNQ3 NM_004519.4(KCNQ3):c.*6665A>G SNV Uncertain significance 910304 8:133134844-133134844 8:132122597-132122597
49 KCNQ3 NM_004519.4(KCNQ3):c.*6455G>T SNV Uncertain significance 910305 8:133135054-133135054 8:132122807-132122807
50 KCNQ3 NM_004519.4(KCNQ3):c.*6384A>G SNV Uncertain significance 910306 8:133135125-133135125 8:132122878-132122878

UniProtKB/Swiss-Prot genetic disease variations for Seizures, Benign Familial Neonatal, 2:

73
# Symbol AA change Variation ID SNP ID
1 KCNQ3 p.Gly310Val VAR_001546 rs118192250
2 KCNQ3 p.Trp309Arg VAR_010935 rs118192249
3 KCNQ3 p.Asp305Gly VAR_026994 rs118192248

Expression for Seizures, Benign Familial Neonatal, 2

Search GEO for disease gene expression data for Seizures, Benign Familial Neonatal, 2.

Pathways for Seizures, Benign Familial Neonatal, 2

Pathways related to Seizures, Benign Familial Neonatal, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.04 KCNQ3 KCNQ2
2 11.68 KCNQ3 KCNQ2
3
Show member pathways
11.43 KCNQ3 KCNQ2
4
Show member pathways
11.25 KCNQ3 KCNQ2
5 10.72 KCNQ3 KCNQ2
6 10.1 KCNQ3 KCNQ2

GO Terms for Seizures, Benign Familial Neonatal, 2

Cellular components related to Seizures, Benign Familial Neonatal, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel complex GO:0008076 9.16 KCNQ3 KCNQ2
2 axon initial segment GO:0043194 8.96 KCNQ3 KCNQ2
3 node of Ranvier GO:0033268 8.62 KCNQ3 KCNQ2

Biological processes related to Seizures, Benign Familial Neonatal, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.4 KCNQ3 KCNQ2
2 transmembrane transport GO:0055085 9.37 KCNQ3 KCNQ2
3 ion transmembrane transport GO:0034220 9.32 KCNQ3 KCNQ2
4 chemical synaptic transmission GO:0007268 9.26 KCNQ3 KCNQ2
5 regulation of ion transmembrane transport GO:0034765 9.16 KCNQ3 KCNQ2
6 potassium ion transport GO:0006813 8.96 KCNQ3 KCNQ2
7 potassium ion transmembrane transport GO:0071805 8.62 KCNQ3 KCNQ2

Molecular functions related to Seizures, Benign Familial Neonatal, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.37 KCNQ3 KCNQ2
2 ion channel activity GO:0005216 9.32 KCNQ3 KCNQ2
3 voltage-gated ion channel activity GO:0005244 9.26 KCNQ3 KCNQ2
4 potassium channel activity GO:0005267 9.16 KCNQ3 KCNQ2
5 voltage-gated potassium channel activity GO:0005249 8.96 KCNQ3 KCNQ2
6 delayed rectifier potassium channel activity GO:0005251 8.62 KCNQ3 KCNQ2

Sources for Seizures, Benign Familial Neonatal, 2

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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