BFNS2
MCID: SZR023
MIFTS: 35

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 56
Benign Familial Neonatal Seizures 2 29 6
Seizures, Benign Neonatal, 2 56 29
Bfns2 56 73
Bfnc2 56 73
Convulsions, Benign Familial Neonatal, 2; Bfnc2 56
Seizures, Neonatal, Benign, Familial, Type 2 39
Benign Familial Neonatal Convulsions Type 2 73
Convulsions, Benign Familial Neonatal, 2 56
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:

56
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 56 121201
OMIM Phenotypic Series 56 PS121200
MeSH 43 D020936
MedGen 41 C1852581
SNOMED-CT via HPO 68 263681008 54200006
UMLS 71 C1852581

Summaries for Seizures, Benign Familial Neonatal, 2

OMIM : 56 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)

MalaCards based summary : Seizures, Benign Familial Neonatal, 2, also known as benign familial neonatal seizures 2, is related to benign familial neonatal epilepsy and epilepsy, idiopathic generalized. 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. Affiliated tissues include brain, and related phenotypes are generalized tonic-clonic seizures and focal clonic seizures

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:

(showing 33, show less)
# Related Disease Score Top Affiliating Genes
1 benign familial neonatal epilepsy 31.6 KCNQ3 KCNQ2
2 epilepsy, idiopathic generalized 31.2 KCNQ3 KCNQ2
3 benign neonatal seizures 30.0 KCNQ3 KCNQ2
4 benign epilepsy with centrotemporal spikes 29.7 KCNQ3 KCNQ2
5 kcnq2-related disorders 9.8 KCNQ3 KCNQ2
6 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 9.8 KCNQ3 KCNQ2
7 early onset absence epilepsy 9.8 KCNQ3 KCNQ2
8 epileptic encephalopathy, early infantile, 7 9.8 KCNQ3 KCNQ2
9 epilepsy, nocturnal frontal lobe, 1 9.8 KCNQ3 KCNQ2
10 eastern equine encephalitis 9.8 KCNQ3 KCNQ2
11 adolescence-adult electroclinical syndrome 9.8 KCNQ3 KCNQ2
12 electroclinical syndrome 9.8 KCNQ3 KCNQ2
13 infancy electroclinical syndrome 9.7 KCNQ3 KCNQ2
14 episodic ataxia, type 1 9.7 KCNQ3 KCNQ2
15 episodic ataxia 9.7 KCNQ3 KCNQ2
16 dyskeratosis congenita, autosomal dominant 1 9.7 KCNQ3 KCNQ2
17 photosensitive epilepsy 9.7 KCNQ3 KCNQ2
18 childhood electroclinical syndrome 9.7 KCNQ3 KCNQ2
19 neonatal period electroclinical syndrome 9.7 KCNQ3 KCNQ2
20 benign familial infantile epilepsy 9.7 KCNQ3 KCNQ2
21 lennox-gastaut syndrome 9.7 KCNQ3 KCNQ2
22 autosomal dominant nocturnal frontal lobe epilepsy 9.7 KCNQ3 KCNQ2
23 early myoclonic encephalopathy 9.7 KCNQ3 KCNQ2
24 epileptic encephalopathy, early infantile, 6 9.7 KCNQ3 KCNQ2
25 generalized epilepsy with febrile seizures plus 9.7 KCNQ3 KCNQ2
26 epilepsy, myoclonic juvenile 9.6 KCNQ3 KCNQ2
27 long qt syndrome 1 9.6 KCNQ3 KCNQ2
28 long qt syndrome 9.6 KCNQ3 KCNQ2
29 focal epilepsy 9.6 KCNQ3 KCNQ2
30 childhood absence epilepsy 9.6 KCNQ3 KCNQ2
31 west syndrome 9.5 KCNQ3 KCNQ2
32 early infantile epileptic encephalopathy 9.4 KCNQ3 KCNQ2
33 migraine with or without aura 1 9.2 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 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 31 HP:0002069
2 focal clonic seizures 31 HP:0002266

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
generalized tonic-clonic seizures
focal clonic seizures
seizures, afebrile
increased risk of seizures in childhood or adulthood (11-16%)
normal psychomotor development

Clinical features from OMIM:

121201

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

MalaCards organs/tissues related to Seizures, Benign Familial Neonatal, 2:

40
Brain

Publications for Seizures, Benign Familial Neonatal, 2

Articles related to Seizures, Benign Familial Neonatal, 2:

(showing 9, show less)
# Title Authors PMID Year
1
Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case. 61 6 56
23146207 2013
2
A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions. 56 6 61
18249525 2008
3
A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions. 61 56 6
10852552 2000
4
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. 56 6
9425900 1998
5
Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity. 6 56
1859177 1991
6
KCNQ3-Related Disorders 6
24851285 2014
7
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 6
20298421 2010
8
Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. 56
8102508 1993
9
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 (showing 24, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNQ2 NM_172107.4(KCNQ2):c.1662G>T (p.Lys554Asn)SNV Pathogenic 7388 rs267607198 20:62044904-62044904 20:63413551-63413551
2 KCNQ2 NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp)SNV Pathogenic 7389 rs74315392 20:62073835-62073835 20:63442482-63442482
3 KCNQ3 NM_004519.4(KCNQ3):c.929G>T (p.Gly310Val)SNV Pathogenic 7392 rs118192250 8:133187704-133187704 8:132175457-132175457
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.925T>C (p.Trp309Arg)SNV Pathogenic 21415 rs118192249 8:133187708-133187708 8:132175461-132175461
7 KCNQ2 NM_172107.4(KCNQ2):c.939dup (p.Ser314fs)duplication Pathogenic 21807 rs118192213 20:62070062-62070062 20:63438709-63438709
8 KCNQ3 NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys)SNV Pathogenic/Likely pathogenic 21417 rs118192251 8:133186542-133186542 8:132174295-132174295
9 KCNQ3 NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)SNV Pathogenic/Likely pathogenic 205963 rs796052676 8:133192493-133192493 8:132180246-132180246
10 KCNQ3 NM_004519.4(KCNQ3):c.899T>C (p.Phe300Ser)SNV Likely pathogenic 495233 rs1554627439 8:133187734-133187734 8:132175487-132175487
11 KCNQ3 NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr)SNV Conflicting interpretations of pathogenicity 661030 8:133186580-133186580 8:132174333-132174333
12 KCNQ3 NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser)SNV Conflicting interpretations of pathogenicity 21412 rs118192254 8:133141666-133141666 8:132129419-132129419
13 KCNQ3 NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu)SNV Conflicting interpretations of pathogenicity 194513 rs147173555 8:133142134-133142134 8:132129887-132129887
14 KCNQ3 NM_004519.4(KCNQ3):c.2614A>G (p.Ile872Val)SNV Uncertain significance 205995 rs199682667 8:133141514-133141514 8:132129267-132129267
15 KCNQ3 NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu)SNV Uncertain significance 206003 rs185511111 8:133142243-133142243 8:132129996-132129996
16 KCNQ3 NM_004519.4(KCNQ3):c.1226C>G (p.Pro409Arg)SNV Uncertain significance 205970 rs149272208 8:133182590-133182590 8:132170343-132170343
17 KCNQ3 NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser)SNV Uncertain significance 21410 rs118192252 8:133153438-133153438 8:132141191-132141191
18 KCNQ3 NM_004519.4(KCNQ3):c.1249_1250delinsAT (p.Glu417Met)indel Uncertain significance 450849 rs1554625699 8:133175727-133175728 8:132163480-132163481
19 KCNQ3 NM_004519.4(KCNQ3):c.1178T>C (p.Ile393Thr)SNV Uncertain significance 570705 8:133182638-133182638 8:132170391-132170391
20 KCNQ3 NM_004519.4(KCNQ3):c.2454C>T (p.Phe818=)SNV Uncertain significance 626127 rs375379466 8:133141674-133141674 8:132129427-132129427
21 KCNQ3 NM_004519.4(KCNQ3):c.2611C>G (p.Pro871Ala)SNV Uncertain significance 372395 rs200647826 8:133141517-133141517 8:132129270-132129270
22 KCNQ3 NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser)SNV Benign/Likely benign 21411 rs74582884 8:133146616-133146616 8:132134369-132134369
23 KCNQ3 NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His)SNV Benign/Likely benign 138051 rs114095081 8:133141822-133141822 8:132129575-132129575
24 KCNQ3 NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly)SNV Benign 21409 rs2303995 8:133175736-133175736 8:132163489-132163489

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

73 (showing 3, show less)
# 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

GO Terms for Seizures, Benign Familial Neonatal, 2

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

(showing 3, show less)
# 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:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.37 KCNQ3 KCNQ2
2 transmembrane transport GO:0055085 9.32 KCNQ3 KCNQ2
3 chemical synaptic transmission GO:0007268 9.26 KCNQ3 KCNQ2
4 regulation of ion transmembrane transport GO:0034765 9.16 KCNQ3 KCNQ2
5 potassium ion transport GO:0006813 8.96 KCNQ3 KCNQ2
6 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:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.32 KCNQ3 KCNQ2
2 voltage-gated ion channel activity GO:0005244 9.26 KCNQ3 KCNQ2
3 potassium channel activity GO:0005267 9.16 KCNQ3 KCNQ2
4 voltage-gated potassium channel activity GO:0005249 8.96 KCNQ3 KCNQ2
5 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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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41 MedGen
43 MeSH
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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