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 72
Bfnc2 57 72
Convulsions, Benign Familial Neonatal, 2; Bfnc2 57
Seizures, Neonatal, Benign, Familial, Type 2 39
Benign Familial Neonatal Convulsions Type 2 72
Convulsions, Benign Familial Neonatal, 2 57
Seizures, Benign Familial Neonatal 2 72
Seizures, Benign Neonatal, Type 2 13
Epilepsy, Benign Neonatal, 2 70
Benign Neonatal Epilepsy 2 72
Ebn2 72

Characteristics:

OMIM®:

57 (Updated 20-May-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 70 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 20-May-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 Dopamine-DARPP32 Feedback onto cAMP Pathway and Potassium Channels. Related phenotypes are focal clonic seizure and bilateral tonic-clonic seizure

UniProtKB/Swiss-Prot : 72 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 33)
# 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 adolescence-adult electroclinical syndrome 9.8 KCNQ3 KCNQ2
14 episodic ataxia, type 1 9.8 KCNQ3 KCNQ2
15 episodic ataxia 9.8 KCNQ3 KCNQ2
16 photosensitive epilepsy 9.8 KCNQ3 KCNQ2
17 childhood electroclinical syndrome 9.8 KCNQ3 KCNQ2
18 neonatal period electroclinical syndrome 9.8 KCNQ3 KCNQ2
19 benign familial infantile epilepsy 9.8 KCNQ3 KCNQ2
20 unverricht-lundborg syndrome 9.8 KCNQ3 KCNQ2
21 lennox-gastaut syndrome 9.8 KCNQ3 KCNQ2
22 early myoclonic encephalopathy 9.8 KCNQ3 KCNQ2
23 autosomal dominant nocturnal frontal lobe epilepsy 9.8 KCNQ3 KCNQ2
24 epilepsy, myoclonic juvenile 9.8 KCNQ3 KCNQ2
25 generalized epilepsy with febrile seizures plus 9.8 KCNQ3 KCNQ2
26 dravet syndrome 9.8 KCNQ3 KCNQ2
27 childhood absence epilepsy 9.7 KCNQ3 KCNQ2
28 long qt syndrome 1 9.7 KCNQ3 KCNQ2
29 long qt syndrome 9.7 KCNQ3 KCNQ2
30 west syndrome 9.7 KCNQ3 KCNQ2
31 migraine with or without aura 1 9.6 KCNQ3 KCNQ2
32 seizure disorder 9.6 KCNQ3 KCNQ2
33 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 20-May-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 20-May-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. 6 57 61
23146207 2013
2
A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions. 6 57 61
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. 6 57
1859177 1991
6
Benign familial neonatal convulsions: always benign? 6
17129708 2007
7
A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. 6
15249611 2004
8
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. 6
12742592 2003
9
Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. 57
8102508 1993
10
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 267)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNQ3 NM_004519.4(KCNQ3):c.929G>T (p.Gly310Val) SNV Pathogenic 7392 rs118192250 GRCh37: 8:133187704-133187704
GRCh38: 8:132175457-132175457
2 KCNQ3 NM_004519.4(KCNQ3):c.925T>C (p.Trp309Arg) SNV Pathogenic 21415 rs118192249 GRCh37: 8:133187708-133187708
GRCh38: 8:132175461-132175461
3 KCNQ3 NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) SNV Pathogenic 21417 rs118192251 GRCh37: 8:133186542-133186542
GRCh38: 8:132174295-132174295
4 KCNQ3 NM_004519.4(KCNQ3):c.895G>A (p.Glu299Lys) SNV Pathogenic 21413 rs118192247 GRCh37: 8:133187738-133187738
GRCh38: 8:132175491-132175491
5 KCNQ3 NM_004519.4(KCNQ3):c.914A>G (p.Asp305Gly) SNV Pathogenic 21414 rs118192248 GRCh37: 8:133187719-133187719
GRCh38: 8:132175472-132175472
6 KCNQ3 NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr) SNV Pathogenic 661030 rs1586800133 GRCh37: 8:133186580-133186580
GRCh38: 8:132174333-132174333
7 KCNQ2 NM_172107.4(KCNQ2):c.939dup (p.Ser314fs) Duplication Pathogenic 21807 rs118192213 GRCh37: 20:62070061-62070062
GRCh38: 20:63438708-63438709
8 KCNQ2 NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp) SNV Pathogenic 7389 rs74315392 GRCh37: 20:62073835-62073835
GRCh38: 20:63442482-63442482
9 KCNQ3 NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser) SNV Pathogenic 21410 rs118192252 GRCh37: 8:133153438-133153438
GRCh38: 8:132141191-132141191
10 KCNQ3 NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) SNV Pathogenic 21412 rs118192254 GRCh37: 8:133141666-133141666
GRCh38: 8:132129419-132129419
11 KCNQ3 NM_004519.4(KCNQ3):c.2469dup (p.Ser824fs) Duplication Pathogenic 279820 rs886041208 GRCh37: 8:133141658-133141659
GRCh38: 8:132129411-132129412
12 KCNQ2 NM_172107.4(KCNQ2):c.1662G>T (p.Lys554Asn) SNV Pathogenic 7388 rs267607198 GRCh37: 20:62044904-62044904
GRCh38: 20:63413551-63413551
13 KCNQ3 NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) SNV Pathogenic/Likely pathogenic 205963 rs796052676 GRCh37: 8:133192493-133192493
GRCh38: 8:132180246-132180246
14 KCNQ3 NM_004519.4(KCNQ3):c.689G>A (p.Arg230His) SNV Pathogenic/Likely pathogenic 424397 GRCh37: 8:133192492-133192492
GRCh38: 8:132180245-132180245
15 KCNQ3 NM_004519.4(KCNQ3):c.104_105del (p.Ala35fs) Deletion Likely pathogenic 998162 GRCh37: 8:133492675-133492676
GRCh38: 8:132480428-132480429
16 KCNQ3 NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His) SNV Likely pathogenic 934997 GRCh37: 8:133184894-133184894
GRCh38: 8:132172647-132172647
17 KCNQ3 NM_004519.4(KCNQ3):c.899T>C (p.Phe300Ser) SNV Likely pathogenic 495233 rs1554627439 GRCh37: 8:133187734-133187734
GRCh38: 8:132175487-132175487
18 KCNQ3 NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) SNV Conflicting interpretations of pathogenicity 194513 rs147173555 GRCh37: 8:133142134-133142134
GRCh38: 8:132129887-132129887
19 KCNQ3 NM_004519.4(KCNQ3):c.1199G>A (p.Arg400Lys) SNV Uncertain significance 471214 rs943073757 GRCh37: 8:133182617-133182617
GRCh38: 8:132170370-132170370
20 KCNQ3 NM_004519.4(KCNQ3):c.1941G>A (p.Met647Ile) SNV Uncertain significance 571968 rs1227129126 GRCh37: 8:133142187-133142187
GRCh38: 8:132129940-132129940
21 KCNQ3 NM_004519.4(KCNQ3):c.477G>A (p.Leu159=) SNV Uncertain significance 1032216 GRCh37: 8:133198338-133198338
GRCh38: 8:132186091-132186091
22 KCNQ3 NM_004519.4(KCNQ3):c.2614A>G (p.Ile872Val) SNV Uncertain significance 205995 rs199682667 GRCh37: 8:133141514-133141514
GRCh38: 8:132129267-132129267
23 KCNQ3 NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu) SNV Uncertain significance 206003 rs185511111 GRCh37: 8:133142243-133142243
GRCh38: 8:132129996-132129996
24 KCNQ3 NM_004519.4(KCNQ3):c.1226C>G (p.Pro409Arg) SNV Uncertain significance 205970 rs149272208 GRCh37: 8:133182590-133182590
GRCh38: 8:132170343-132170343
25 KCNQ3 NM_004519.4(KCNQ3):c.1249_1250delinsAT (p.Glu417Met) Indel Uncertain significance 450849 rs1554625699 GRCh37: 8:133175727-133175728
GRCh38: 8:132163480-132163481
26 KCNQ3 NM_004519.4(KCNQ3):c.-138T>G SNV Uncertain significance 361895 rs868425061 GRCh37: 8:133492917-133492917
GRCh38: 8:132480670-132480670
27 KCNQ3 NM_004519.4(KCNQ3):c.-133A>G SNV Uncertain significance 911877 GRCh37: 8:133492912-133492912
GRCh38: 8:132480665-132480665
28 KCNQ3 NM_004519.4(KCNQ3):c.-206C>T SNV Uncertain significance 911878 GRCh37: 8:133492985-133492985
GRCh38: 8:132480738-132480738
29 KCNQ3 NM_004519.4(KCNQ3):c.680G>A (p.Arg227Gln) SNV Uncertain significance 975970 GRCh37: 8:133192501-133192501
GRCh38: 8:132180254-132180254
30 KCNQ3 NM_004519.4(KCNQ3):c.855C>T (p.Asp285=) SNV Uncertain significance 704047 rs62519577 GRCh37: 8:133187778-133187778
GRCh38: 8:132175531-132175531
31 KCNQ3 NM_004519.4(KCNQ3):c.337G>A (p.Asp113Asn) SNV Uncertain significance 665904 rs1299548932 GRCh37: 8:133492443-133492443
GRCh38: 8:132480196-132480196
32 KCNQ3 NM_004519.4(KCNQ3):c.231G>A (p.Gly77=) SNV Uncertain significance 717797 rs1195159317 GRCh37: 8:133492549-133492549
GRCh38: 8:132480302-132480302
33 KCNQ3 NM_004519.4(KCNQ3):c.2165G>A (p.Arg722Gln) SNV Uncertain significance 361874 rs377725346 GRCh37: 8:133141963-133141963
GRCh38: 8:132129716-132129716
34 KCNQ3 NM_004519.4(KCNQ3):c.1809A>G (p.Pro603=) SNV Uncertain significance 361877 rs886062691 GRCh37: 8:133144502-133144502
GRCh38: 8:132132255-132132255
35 KCNQ3 NM_004519.4(KCNQ3):c.1178T>C (p.Ile393Thr) SNV Uncertain significance 570705 rs201814804 GRCh37: 8:133182638-133182638
GRCh38: 8:132170391-132170391
36 KCNQ3 NM_004519.4(KCNQ3):c.591C>T (p.Pro197=) SNV Uncertain significance 909734 GRCh37: 8:133196501-133196501
GRCh38: 8:132184254-132184254
37 KCNQ3 NM_004519.4(KCNQ3):c.*6725A>C SNV Uncertain significance 910303 GRCh37: 8:133134784-133134784
GRCh38: 8:132122537-132122537
38 KCNQ3 NM_004519.4(KCNQ3):c.*6665A>G SNV Uncertain significance 910304 GRCh37: 8:133134844-133134844
GRCh38: 8:132122597-132122597
39 KCNQ3 NM_004519.4(KCNQ3):c.*6455G>T SNV Uncertain significance 910305 GRCh37: 8:133135054-133135054
GRCh38: 8:132122807-132122807
40 KCNQ3 NM_004519.4(KCNQ3):c.*6384A>G SNV Uncertain significance 910306 GRCh37: 8:133135125-133135125
GRCh38: 8:132122878-132122878
41 KCNQ3 NM_004519.4(KCNQ3):c.*5454T>A SNV Uncertain significance 910365 GRCh37: 8:133136055-133136055
GRCh38: 8:132123808-132123808
42 KCNQ3 NM_004519.4(KCNQ3):c.*5423T>A SNV Uncertain significance 910366 GRCh37: 8:133136086-133136086
GRCh38: 8:132123839-132123839
43 KCNQ3 NM_004519.4(KCNQ3):c.*5369G>A SNV Uncertain significance 910367 GRCh37: 8:133136140-133136140
GRCh38: 8:132123893-132123893
44 KCNQ3 NM_004519.4(KCNQ3):c.*4983T>A SNV Uncertain significance 910369 GRCh37: 8:133136526-133136526
GRCh38: 8:132124279-132124279
45 KCNQ3 NM_004519.4(KCNQ3):c.*2268T>A SNV Uncertain significance 910476 GRCh37: 8:133139241-133139241
GRCh38: 8:132126994-132126994
46 KCNQ3 NM_004519.4(KCNQ3):c.*2197C>G SNV Uncertain significance 910477 GRCh37: 8:133139312-133139312
GRCh38: 8:132127065-132127065
47 KCNQ3 NM_004519.4(KCNQ3):c.*2143G>A SNV Uncertain significance 910478 GRCh37: 8:133139366-133139366
GRCh38: 8:132127119-132127119
48 KCNQ3 NM_004519.4(KCNQ3):c.*2092G>T SNV Uncertain significance 910479 GRCh37: 8:133139417-133139417
GRCh38: 8:132127170-132127170
49 KCNQ3 NM_004519.4(KCNQ3):c.*2044C>T SNV Uncertain significance 910480 GRCh37: 8:133139465-133139465
GRCh38: 8:132127218-132127218
50 KCNQ3 NM_004519.4(KCNQ3):c.*2026G>A SNV Uncertain significance 910481 GRCh37: 8:133139483-133139483
GRCh38: 8:132127236-132127236

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

72
# 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 11.68 KCNQ3 KCNQ2
2
Show member pathways
11.43 KCNQ3 KCNQ2
3
Show member pathways
11.25 KCNQ3 KCNQ2
4 10.72 KCNQ3 KCNQ2
5 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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