BFNS2
MCID: SZR023
MIFTS: 33

Seizures, Benign Familial Neonatal, 2 (BFNS2)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Seizures, Benign Familial Neonatal, 2

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

Name: Seizures, Benign Familial Neonatal, 2 58
Benign Familial Neonatal Seizures 2 30 6
Bfns2 58 76
Bfnc2 58 76
Convulsions, Benign Familial Neonatal, 2; Bfnc2 58
Seizures, Neonatal, Benign, Familial, Type 2 41
Benign Familial Neonatal Convulsions Type 2 76
Convulsions, Benign Familial Neonatal, 2 58
Seizures, Benign Familial Neonatal 2 76
Seizures, Benign Neonatal, Type 2 13
Seizures, Benign Neonatal, 2 58
Epilepsy, Benign Neonatal, 2 74
Benign Neonatal Epilepsy 2 76
Ebn2 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
seizures, benign familial neonatal, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 121201
MeSH 45 D020936
MedGen 43 C1852581
SNOMED-CT via HPO 70 263681008 54200006
UMLS 74 C1852581

Summaries for Seizures, Benign Familial Neonatal, 2

OMIM : 58 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 : 76 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:

33
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 33 HP:0002069
2 focal clonic seizures 33 HP:0002266

Symptoms via clinical synopsis from OMIM:

58
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 30 KCNQ3

Anatomical Context for Seizures, Benign Familial Neonatal, 2

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

42
Brain

Publications for Seizures, Benign Familial Neonatal, 2

Articles related to Seizures, Benign Familial Neonatal, 2:

# Title Authors Year
1
Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case. ( 23146207 )
2013
2
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. ( 20298421 )
2010
3
A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions. ( 18249525 )
2008
4
A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions. ( 10852552 )
2000
5
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. ( 9425900 )
1998
6
Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity. ( 1859177 )
1991

Variations for Seizures, Benign Familial Neonatal, 2

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

76
# 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

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

6 (show all 46)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ2 NM_172107.3(KCNQ2): c.1662G> T (p.Lys554Asn) single nucleotide variant Pathogenic rs267607198 GRCh37 Chromosome 20, 62044904: 62044904
2 KCNQ2 NM_172107.3(KCNQ2): c.1662G> T (p.Lys554Asn) single nucleotide variant Pathogenic rs267607198 GRCh38 Chromosome 20, 63413551: 63413551
3 KCNQ2 NM_172107.3(KCNQ2): c.740C> G (p.Ser247Trp) single nucleotide variant Pathogenic rs74315392 GRCh37 Chromosome 20, 62073835: 62073835
4 KCNQ2 NM_172107.3(KCNQ2): c.740C> G (p.Ser247Trp) single nucleotide variant Pathogenic rs74315392 GRCh38 Chromosome 20, 63442482: 63442482
5 KCNQ3 NM_004519.3(KCNQ3): c.929G> T (p.Gly310Val) single nucleotide variant Pathogenic rs118192250 GRCh37 Chromosome 8, 133187704: 133187704
6 KCNQ3 NM_004519.3(KCNQ3): c.929G> T (p.Gly310Val) single nucleotide variant Pathogenic rs118192250 GRCh38 Chromosome 8, 132175457: 132175457
7 KCNQ3 NM_004519.3(KCNQ3): c.1241A> G (p.Glu414Gly) single nucleotide variant Benign rs2303995 GRCh37 Chromosome 8, 133175736: 133175736
8 KCNQ3 NM_004519.3(KCNQ3): c.1241A> G (p.Glu414Gly) single nucleotide variant Benign rs2303995 GRCh38 Chromosome 8, 132163489: 132163489
9 KCNQ3 NM_001204824.1(KCNQ3): c.1043A> G (p.Asn348Ser) single nucleotide variant Uncertain significance rs118192252 GRCh37 Chromosome 8, 133153438: 133153438
10 KCNQ3 NM_001204824.1(KCNQ3): c.1043A> G (p.Asn348Ser) single nucleotide variant Uncertain significance rs118192252 GRCh38 Chromosome 8, 132141191: 132141191
11 KCNQ3 NM_004519.3(KCNQ3): c.1720C> T (p.Pro574Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs74582884 GRCh37 Chromosome 8, 133146616: 133146616
12 KCNQ3 NM_004519.3(KCNQ3): c.1720C> T (p.Pro574Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs74582884 GRCh38 Chromosome 8, 132134369: 132134369
13 KCNQ3 NM_004519.3(KCNQ3): c.2462A> G (p.Asn821Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs118192254 GRCh37 Chromosome 8, 133141666: 133141666
14 KCNQ3 NM_004519.3(KCNQ3): c.2462A> G (p.Asn821Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs118192254 GRCh38 Chromosome 8, 132129419: 132129419
15 KCNQ3 NM_004519.3(KCNQ3): c.895G> A (p.Glu299Lys) single nucleotide variant Pathogenic rs118192247 GRCh37 Chromosome 8, 133187738: 133187738
16 KCNQ3 NM_004519.3(KCNQ3): c.895G> A (p.Glu299Lys) single nucleotide variant Pathogenic rs118192247 GRCh38 Chromosome 8, 132175491: 132175491
17 KCNQ3 NM_004519.3(KCNQ3): c.914A> G (p.Asp305Gly) single nucleotide variant Pathogenic rs118192248 GRCh37 Chromosome 8, 133187719: 133187719
18 KCNQ3 NM_004519.3(KCNQ3): c.914A> G (p.Asp305Gly) single nucleotide variant Pathogenic rs118192248 GRCh38 Chromosome 8, 132175472: 132175472
19 KCNQ3 NM_004519.3(KCNQ3): c.925T> C (p.Trp309Arg) single nucleotide variant Pathogenic rs118192249 GRCh37 Chromosome 8, 133187708: 133187708
20 KCNQ3 NM_004519.3(KCNQ3): c.925T> C (p.Trp309Arg) single nucleotide variant Pathogenic rs118192249 GRCh38 Chromosome 8, 132175461: 132175461
21 KCNQ3 NM_004519.3(KCNQ3): c.988C> T (p.Arg330Cys) single nucleotide variant Pathogenic/Likely pathogenic rs118192251 GRCh37 Chromosome 8, 133186542: 133186542
22 KCNQ3 NM_004519.3(KCNQ3): c.988C> T (p.Arg330Cys) single nucleotide variant Pathogenic/Likely pathogenic rs118192251 GRCh38 Chromosome 8, 132174295: 132174295
23 KCNQ2 NM_172107.3(KCNQ2): c.939dup (p.Ser314Valfs) duplication Pathogenic rs118192213 GRCh37 Chromosome 20, 62070062: 62070062
24 KCNQ2 NM_172107.3(KCNQ2): c.939dup (p.Ser314Valfs) duplication Pathogenic rs118192213 GRCh38 Chromosome 20, 63438709: 63438709
25 KCNQ3 NM_004519.3(KCNQ3): c.2306C> A (p.Pro769His) single nucleotide variant Benign/Likely benign rs114095081 GRCh37 Chromosome 8, 133141822: 133141822
26 KCNQ3 NM_004519.3(KCNQ3): c.2306C> A (p.Pro769His) single nucleotide variant Benign/Likely benign rs114095081 GRCh38 Chromosome 8, 132129575: 132129575
27 KCNQ3 NM_004519.3(KCNQ3): c.1994C> T (p.Ser665Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147173555 GRCh37 Chromosome 8, 133142134: 133142134
28 KCNQ3 NM_004519.3(KCNQ3): c.1994C> T (p.Ser665Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147173555 GRCh38 Chromosome 8, 132129887: 132129887
29 KCNQ3 NM_001204824.1(KCNQ3): c.2254A> G (p.Ile752Val) single nucleotide variant Uncertain significance rs199682667 GRCh38 Chromosome 8, 132129267: 132129267
30 KCNQ3 NM_001204824.1(KCNQ3): c.2254A> G (p.Ile752Val) single nucleotide variant Uncertain significance rs199682667 GRCh37 Chromosome 8, 133141514: 133141514
31 KCNQ3 NM_004519.3(KCNQ3): c.1885G> C (p.Val629Leu) single nucleotide variant Uncertain significance rs185511111 GRCh37 Chromosome 8, 133142243: 133142243
32 KCNQ3 NM_004519.3(KCNQ3): c.1885G> C (p.Val629Leu) single nucleotide variant Uncertain significance rs185511111 GRCh38 Chromosome 8, 132129996: 132129996
33 KCNQ3 NM_001204824.1(KCNQ3): c.866C> G (p.Pro289Arg) single nucleotide variant Uncertain significance rs149272208 GRCh37 Chromosome 8, 133182590: 133182590
34 KCNQ3 NM_001204824.1(KCNQ3): c.866C> G (p.Pro289Arg) single nucleotide variant Uncertain significance rs149272208 GRCh38 Chromosome 8, 132170343: 132170343
35 KCNQ3 NM_004519.3(KCNQ3): c.688C> T (p.Arg230Cys) single nucleotide variant Pathogenic/Likely pathogenic rs796052676 GRCh37 Chromosome 8, 133192493: 133192493
36 KCNQ3 NM_004519.3(KCNQ3): c.688C> T (p.Arg230Cys) single nucleotide variant Pathogenic/Likely pathogenic rs796052676 GRCh38 Chromosome 8, 132180246: 132180246
37 KCNQ3 NM_004519.3(KCNQ3): c.2611C> G (p.Pro871Ala) single nucleotide variant Uncertain significance rs200647826 GRCh37 Chromosome 8, 133141517: 133141517
38 KCNQ3 NM_004519.3(KCNQ3): c.2611C> G (p.Pro871Ala) single nucleotide variant Uncertain significance rs200647826 GRCh38 Chromosome 8, 132129270: 132129270
39 KCNQ3 NM_004519.3(KCNQ3): c.1249_1250delGAinsAT (p.Glu417Met) indel Uncertain significance rs1554625699 GRCh38 Chromosome 8, 132163480: 132163481
40 KCNQ3 NM_004519.3(KCNQ3): c.1249_1250delGAinsAT (p.Glu417Met) indel Uncertain significance rs1554625699 GRCh37 Chromosome 8, 133175727: 133175728
41 KCNQ3 NM_004519.3(KCNQ3): c.899T> C (p.Phe300Ser) single nucleotide variant Likely pathogenic rs1554627439 GRCh38 Chromosome 8, 132175487: 132175487
42 KCNQ3 NM_004519.3(KCNQ3): c.899T> C (p.Phe300Ser) single nucleotide variant Likely pathogenic rs1554627439 GRCh37 Chromosome 8, 133187734: 133187734
43 KCNQ3 NM_004519.3(KCNQ3): c.1178T> C (p.Ile393Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 132170391: 132170391
44 KCNQ3 NM_004519.3(KCNQ3): c.1178T> C (p.Ile393Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 133182638: 133182638
45 KCNQ3 NM_004519.4(KCNQ3): c.2454C> T (p.Phe818=) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 133141674: 133141674
46 KCNQ3 NM_004519.4(KCNQ3): c.2454C> T (p.Phe818=) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 132129427: 132129427

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 KCNQ2 KCNQ3
2 axon initial segment GO:0043194 8.96 KCNQ2 KCNQ3
3 node of Ranvier GO:0033268 8.62 KCNQ2 KCNQ3

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 KCNQ2 KCNQ3
2 transmembrane transport GO:0055085 9.32 KCNQ2 KCNQ3
3 chemical synaptic transmission GO:0007268 9.26 KCNQ2 KCNQ3
4 regulation of ion transmembrane transport GO:0034765 9.16 KCNQ2 KCNQ3
5 potassium ion transport GO:0006813 8.96 KCNQ2 KCNQ3
6 potassium ion transmembrane transport GO:0071805 8.62 KCNQ2 KCNQ3

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 KCNQ2 KCNQ3
2 voltage-gated ion channel activity GO:0005244 9.26 KCNQ2 KCNQ3
3 potassium channel activity GO:0005267 9.16 KCNQ2 KCNQ3
4 voltage-gated potassium channel activity GO:0005249 8.96 KCNQ2 KCNQ3
5 delayed rectifier potassium channel activity GO:0005251 8.62 KCNQ2 KCNQ3

Sources for Seizures, Benign Familial Neonatal, 2

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