BFNS2
MCID: SZR023
MIFTS: 34

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 74
Bfnc2 57 74
Convulsions, Benign Familial Neonatal, 2; Bfnc2 57
Seizures, Neonatal, Benign, Familial, Type 2 40
Benign Familial Neonatal Convulsions Type 2 74
Convulsions, Benign Familial Neonatal, 2 57
Seizures, Benign Familial Neonatal 2 74
Seizures, Benign Neonatal, Type 2 13
Epilepsy, Benign Neonatal, 2 72
Benign Neonatal Epilepsy 2 74
Ebn2 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
seizures, benign familial neonatal, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D020936
MedGen 42 C1852581
UMLS 72 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)

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 Transmission across Chemical Synapses. Affiliated tissues include brain, and related phenotypes are generalized tonic-clonic seizures and focal clonic seizures

UniProtKB/Swiss-Prot : 74 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

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:

32
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 32 HP:0002069
2 focal clonic seizures 32 HP:0002266

Symptoms via clinical synopsis from OMIM:

57
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:

41
Brain

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. 38 8 71
23146207 2013
2
A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions. 38 8 71
18249525 2008
3
A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions. 38 8 71
10852552 2000
4
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. 8 71
9425900 1998
5
Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity. 8 71
1859177 1991
6
KCNQ3-Related Disorders 71
24851285 2014
7
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 71
20298421 2010
8
Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. 8
8102508 1993
9
Benign familial neonatal convulsions linked to genetic markers on chromosome 20. 38
2918897 1989

Variations for Seizures, Benign Familial Neonatal, 2

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

6 (show all 23)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KCNQ2 NM_172107.4(KCNQ2): c.1662G> T (p.Lys554Asn) single nucleotide variant Pathogenic rs267607198 20:62044904-62044904 20:63413551-63413551
2 KCNQ2 NM_172107.4(KCNQ2): c.740C> G (p.Ser247Trp) single nucleotide variant Pathogenic rs74315392 20:62073835-62073835 20:63442482-63442482
3 KCNQ3 NM_004519.4(KCNQ3): c.929G> T (p.Gly310Val) single nucleotide variant Pathogenic rs118192250 8:133187704-133187704 8:132175457-132175457
4 KCNQ3 NM_004519.4(KCNQ3): c.895G> A (p.Glu299Lys) single nucleotide variant Pathogenic rs118192247 8:133187738-133187738 8:132175491-132175491
5 KCNQ3 NM_004519.4(KCNQ3): c.914A> G (p.Asp305Gly) single nucleotide variant Pathogenic rs118192248 8:133187719-133187719 8:132175472-132175472
6 KCNQ3 NM_004519.4(KCNQ3): c.925T> C (p.Trp309Arg) single nucleotide variant Pathogenic rs118192249 8:133187708-133187708 8:132175461-132175461
7 KCNQ2 NM_172107.4(KCNQ2): c.939dup (p.Ser314fs) duplication Pathogenic rs118192213 20:62070062-62070062 20:63438709-63438709
8 KCNQ3 NM_004519.4(KCNQ3): c.988C> T (p.Arg330Cys) single nucleotide variant Pathogenic/Likely pathogenic rs118192251 8:133186542-133186542 8:132174295-132174295
9 KCNQ3 NM_004519.4(KCNQ3): c.688C> T (p.Arg230Cys) single nucleotide variant Pathogenic/Likely pathogenic rs796052676 8:133192493-133192493 8:132180246-132180246
10 KCNQ3 NM_004519.4(KCNQ3): c.899T> C (p.Phe300Ser) single nucleotide variant Likely pathogenic rs1554627439 8:133187734-133187734 8:132175487-132175487
11 KCNQ3 NM_004519.4(KCNQ3): c.2462A> G (p.Asn821Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs118192254 8:133141666-133141666 8:132129419-132129419
12 KCNQ3 NM_004519.4(KCNQ3): c.1994C> T (p.Ser665Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147173555 8:133142134-133142134 8:132129887-132129887
13 KCNQ3 NM_004519.4(KCNQ3): c.2614A> G (p.Ile872Val) single nucleotide variant Uncertain significance rs199682667 8:133141514-133141514 8:132129267-132129267
14 KCNQ3 NM_004519.4(KCNQ3): c.1885G> C (p.Val629Leu) single nucleotide variant Uncertain significance rs185511111 8:133142243-133142243 8:132129996-132129996
15 KCNQ3 NM_004519.4(KCNQ3): c.1226C> G (p.Pro409Arg) single nucleotide variant Uncertain significance rs149272208 8:133182590-133182590 8:132170343-132170343
16 KCNQ3 NM_004519.4(KCNQ3): c.1178T> C (p.Ile393Thr) single nucleotide variant Uncertain significance 8:133182638-133182638 8:132170391-132170391
17 KCNQ3 NM_004519.4(KCNQ3): c.2454C> T (p.Phe818=) single nucleotide variant Uncertain significance 8:133141674-133141674 8:132129427-132129427
18 KCNQ3 NM_004519.4(KCNQ3): c.2611C> G (p.Pro871Ala) single nucleotide variant Uncertain significance rs200647826 8:133141517-133141517 8:132129270-132129270
19 KCNQ3 NM_004519.4(KCNQ3): c.1249_1250delinsAT (p.Glu417Met) indel Uncertain significance rs1554625699 8:133175727-133175728 8:132163480-132163481
20 KCNQ3 NM_004519.4(KCNQ3): c.1403A> G (p.Asn468Ser) single nucleotide variant Uncertain significance rs118192252 8:133153438-133153438 8:132141191-132141191
21 KCNQ3 NM_004519.4(KCNQ3): c.1720C> T (p.Pro574Ser) single nucleotide variant Benign/Likely benign rs74582884 8:133146616-133146616 8:132134369-132134369
22 KCNQ3 NM_004519.4(KCNQ3): c.2306C> A (p.Pro769His) single nucleotide variant Benign/Likely benign rs114095081 8:133141822-133141822 8:132129575-132129575
23 KCNQ3 NM_004519.4(KCNQ3): c.1241A> G (p.Glu414Gly) single nucleotide variant Benign rs2303995 8:133175736-133175736 8:132163489-132163489

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

74
# 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:

# 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 9.37 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:

# 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
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49 NCI
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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