BFNS1
MCID: SZR022
MIFTS: 31

Seizures, Benign Familial Neonatal, 1 (BFNS1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Seizures, Benign Familial Neonatal, 1

MalaCards integrated aliases for Seizures, Benign Familial Neonatal, 1:

Name: Seizures, Benign Familial Neonatal, 1 57 73
Myokymia 57 29 13 6
Benign Familial Neonatal Seizures 1 29 6
Myokymia with Neonatal Epilepsy 75 73
Bfns1 57 75
Convulsions Benign Familial Neonatal 1 with Myokymia 75
Benign Neonatal Epilepsy 1 and/or Myokymia 75
Benign Neonatal Epilepsy 1 with Myokymia 75
Benign Neonatal Epilepsy Atypical Severe 75
Benign Familial Neonatal Convulsions 1 75
Seizures, Benign Familial Neonatal 1 75
Seizures, Benign Neonatal, Type 1 40
Seizures, Benign Neonatal, 1 57
Benign Neonatal Epilepsy 1 75
Bfnc/myokymia Syndrome 75
Myokymia Isolated 75
Bfnc1 75
Ebn1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset of seizures at 2-8 days of life
most remit by 6 weeks (1-6 months)
some patients may have isolated myokymia
genetic heterogeneity (see ebn2 )
an autosomal recessive form has been reported


HPO:

32
seizures, benign familial neonatal, 1:
Onset and clinical course phenotypic variability neonatal onset
Inheritance heterogeneous autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Seizures, Benign Familial Neonatal, 1

UniProtKB/Swiss-Prot : 75 Seizures, benign familial neonatal 1: 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. Some rare cases manifest an atypical severe phenotype associated with epileptic encephalopathy and psychomotor retardation. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset. In some patients, neonatal convulsions are followed later in life by myokymia, a benign condition characterized by spontaneous involuntary contractions of skeletal muscles fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Some patients may have isolated myokymia.

MalaCards based summary : Seizures, Benign Familial Neonatal, 1, also known as myokymia, is related to dyskinesia, familial, with facial myokymia and isolated facial myokymia, and has symptoms including myokymia An important gene associated with Seizures, Benign Familial Neonatal, 1 is KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2). Affiliated tissues include skin and skeletal muscle, and related phenotypes are global developmental delay and motor delay

OMIM : 57 Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age. The disorder is distinguished from benign familial infantile seizures (BFIS1; 601764) by an earlier age at onset. Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. (121200)

Related Diseases for Seizures, Benign Familial Neonatal, 1

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
Seizures Benign Familial Neonatal Recessive Form

Diseases related to Seizures, Benign Familial Neonatal, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 dyskinesia, familial, with facial myokymia 12.5
2 isolated facial myokymia 12.1
3 myokymia with neonatal epilepsy 12.0
4 episodic ataxia, type 1 11.8
5 episodic ataxia 11.4
6 neuromyotonia and axonal neuropathy, autosomal recessive 11.2
7 adcy5-related dyskinesia 11.2
8 benign familial neonatal epilepsy 11.0
9 seizures, benign familial neonatal, 2 10.9
10 seizures, benign familial infantile, 1 10.9
11 seizures, benign familial infantile, 3 10.9
12 spinocerebellar ataxia 14 10.9
13 episodic ataxia, type 3 10.9
14 multiple sclerosis 10.1
15 neuronitis 9.9
16 glioma 9.9
17 hemifacial spasm 9.9
18 myotonia 9.9
19 tremor 9.9
20 motor neuron disease 9.9
21 neuropathy 9.9
22 myoclonus 9.9
23 spasticity 9.9
24 amyotrophic lateral sclerosis 1 9.8
25 nasopharyngeal carcinoma 9.8
26 ptosis 9.8
27 nasopharyngitis 9.8
28 autosomal dominant cerebellar ataxia 9.8
29 lateral sclerosis 9.8
30 thymoma 9.8
31 laryngitis 9.8
32 polyradiculoneuropathy 9.8
33 movement disease 9.8
34 dystonia 9.8
35 pseudomyotonia 9.8
36 multiple system atrophy 1 9.6
37 medulloblastoma 9.6
38 alexander disease 9.6
39 retinitis pigmentosa 9.6
40 paine syndrome 9.6
41 aceruloplasminemia 9.6
42 leber congenital amaurosis 4 9.6
43 muscle hypertrophy 9.6
44 ataxia-oculomotor apraxia 3 9.6
45 arteriovenous fistula 9.6
46 charcot-marie-tooth disease 9.6
47 hepatitis 9.6
48 hepatitis b 9.6
49 hereditary ataxia 9.6
50 hereditary spastic paraplegia 9.6

Graphical network of the top 20 diseases related to Seizures, Benign Familial Neonatal, 1:



Diseases related to Seizures, Benign Familial Neonatal, 1

Symptoms & Phenotypes for Seizures, Benign Familial Neonatal, 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
generalized tonic-clonic seizures
myokymia
focal clonic seizures
seizures, afebrile
start with tonic posturing
more
Respiratory:
apnea during seizures


Clinical features from OMIM:

121200

Human phenotypes related to Seizures, Benign Familial Neonatal, 1:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 occasional (7.5%) HP:0001263
2 motor delay 32 occasional (7.5%) HP:0001270
3 generalized tonic-clonic seizures 32 HP:0002069
4 focal clonic seizures 32 HP:0002266
5 febrile seizures 32 occasional (7.5%) HP:0002373
6 myokymia 32 HP:0002411

UMLS symptoms related to Seizures, Benign Familial Neonatal, 1:


myokymia

Drugs & Therapeutics for Seizures, Benign Familial Neonatal, 1

Search Clinical Trials , NIH Clinical Center for Seizures, Benign Familial Neonatal, 1

Genetic Tests for Seizures, Benign Familial Neonatal, 1

Genetic tests related to Seizures, Benign Familial Neonatal, 1:

# Genetic test Affiliating Genes
1 Benign Familial Neonatal Seizures 1 29 KCNQ2
2 Myokymia 29

Anatomical Context for Seizures, Benign Familial Neonatal, 1

MalaCards organs/tissues related to Seizures, Benign Familial Neonatal, 1:

41
Skin, Skeletal Muscle

Publications for Seizures, Benign Familial Neonatal, 1

Variations for Seizures, Benign Familial Neonatal, 1

UniProtKB/Swiss-Prot genetic disease variations for Seizures, Benign Familial Neonatal, 1:

75 (show all 22)
# Symbol AA change Variation ID SNP ID
1 KCNQ2 p.Arg214Trp VAR_010929 rs28939684
2 KCNQ2 p.Tyr284Cys VAR_010930 rs28939683
3 KCNQ2 p.Ala306Thr VAR_010931 rs74315390
4 KCNQ2 p.Arg207Trp VAR_026987 rs74315391
5 KCNQ2 p.Met208Val VAR_026988 rs118192201
6 KCNQ2 p.His228Gln VAR_026989 rs118192204
7 KCNQ2 p.Leu243Phe VAR_026990 rs118192205
8 KCNQ2 p.Arg333Gln VAR_026992 rs118192216
9 KCNQ2 p.Lys554Asn VAR_026993 rs267607198
10 KCNQ2 p.Thr114Ala VAR_078658 rs1057516076Seizures,
11 KCNQ2 p.Tyr154Asp VAR_078659 rs1057516078Seizures,
12 KCNQ2 p.Gly159Glu VAR_078660 rs1057516081Seizures,
13 KCNQ2 p.Gly159Arg VAR_078661 rs1057516080Seizures,
14 KCNQ2 p.Ala196Val VAR_078662 rs118192199
15 KCNQ2 p.Arg213Gln VAR_078666 rs397514581
16 KCNQ2 p.Thr217Ala VAR_078668 rs1057516089Seizures,
17 KCNQ2 p.Arg353Gly VAR_078671 rs118192218
18 KCNQ2 p.Ser358Phe VAR_078672 rs1057516110Seizures,
19 KCNQ2 p.Arg547Trp VAR_078674 rs796052650
20 KCNQ2 p.Met578Val VAR_078677 rs1057516123Seizures,
21 KCNQ2 p.Arg588Ser VAR_078679 rs118192237
22 KCNQ2 p.Leu637Arg VAR_078680 rs118192240

ClinVar genetic disease variations for Seizures, Benign Familial Neonatal, 1:

6
(show top 50) (show all 258)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ2 NM_172107.3(KCNQ2): c.851A> G (p.Tyr284Cys) single nucleotide variant Pathogenic rs28939683 GRCh37 Chromosome 20, 62071027: 62071027
2 KCNQ2 NM_172107.3(KCNQ2): c.851A> G (p.Tyr284Cys) single nucleotide variant Pathogenic rs28939683 GRCh38 Chromosome 20, 63439674: 63439674
3 KCNQ2 NM_172107.3(KCNQ2): c.916G> A (p.Ala306Thr) single nucleotide variant Pathogenic rs74315390 GRCh37 Chromosome 20, 62070962: 62070962
4 KCNQ2 NM_172107.3(KCNQ2): c.916G> A (p.Ala306Thr) single nucleotide variant Pathogenic rs74315390 GRCh38 Chromosome 20, 63439609: 63439609
5 KCNQ2 KCNQ2, 1-BP DEL, 1846T deletion Pathogenic
6 KCNQ2 NM_172107.3(KCNQ2): c.640C> T (p.Arg214Trp) single nucleotide variant Likely pathogenic rs28939684 GRCh37 Chromosome 20, 62076062: 62076062
7 KCNQ2 NM_172107.3(KCNQ2): c.640C> T (p.Arg214Trp) single nucleotide variant Likely pathogenic rs28939684 GRCh38 Chromosome 20, 63444709: 63444709
8 KCNQ2 KCNQ2, 10-BP DEL/1-BP INS, NT761 indel Pathogenic
9 KCNQ2 NM_172107.3(KCNQ2): c.1662G> T (p.Lys554Asn) single nucleotide variant Pathogenic rs267607198 GRCh37 Chromosome 20, 62044904: 62044904
10 KCNQ2 NM_172107.3(KCNQ2): c.1662G> T (p.Lys554Asn) single nucleotide variant Pathogenic rs267607198 GRCh38 Chromosome 20, 63413551: 63413551
11 KCNQ2 NM_172107.3(KCNQ2): c.2127delT (p.Val710Serfs) deletion Pathogenic rs118192244 GRCh37 Chromosome 20, 62038489: 62038489
12 KCNQ2 NM_172107.3(KCNQ2): c.2127delT (p.Val710Serfs) deletion Pathogenic rs118192244 GRCh38 Chromosome 20, 63407136: 63407136
13 KCNQ2 NM_172107.3(KCNQ2): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs118192226 GRCh37 Chromosome 20, 62046439: 62046439
14 KCNQ2 NM_172107.3(KCNQ2): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs118192226 GRCh38 Chromosome 20, 63415086: 63415086
15 KCNQ2 NM_172107.3(KCNQ2): c.881C> G (p.Ala294Gly) single nucleotide variant Pathogenic rs118192211 GRCh37 Chromosome 20, 62070997: 62070997
16 KCNQ2 NM_172107.3(KCNQ2): c.881C> G (p.Ala294Gly) single nucleotide variant Pathogenic rs118192211 GRCh38 Chromosome 20, 63439644: 63439644
17 KCNA1 NM_000217.2(KCNA1): c.*9G> A single nucleotide variant Benign rs4766310 GRCh37 Chromosome 12, 5022041: 5022041
18 KCNA1 NM_000217.2(KCNA1): c.*9G> A single nucleotide variant Benign rs4766310 GRCh38 Chromosome 12, 4912875: 4912875
19 KCNA1 NM_000217.2(KCNA1): c.1296C> G (p.Ser432=) single nucleotide variant Benign rs76066681 GRCh37 Chromosome 12, 5021840: 5021840
20 KCNA1 NM_000217.2(KCNA1): c.1296C> G (p.Ser432=) single nucleotide variant Benign rs76066681 GRCh38 Chromosome 12, 4912674: 4912674
21 KCNQ2 NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic/Likely pathogenic rs794727740 GRCh37 Chromosome 20, 62073782: 62073782
22 KCNQ2 NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic/Likely pathogenic rs794727740 GRCh38 Chromosome 20, 63442429: 63442429
23 KCNQ2 NM_172107.3(KCNQ2): c.1657C> T (p.Arg553Trp) single nucleotide variant Pathogenic rs759584387 GRCh37 Chromosome 20, 62044909: 62044909
24 KCNQ2 NM_172107.3(KCNQ2): c.1657C> T (p.Arg553Trp) single nucleotide variant Pathogenic rs759584387 GRCh38 Chromosome 20, 63413556: 63413556
25 KCNQ2 NM_172107.3(KCNQ2): c.775G> T (p.Asp259Tyr) single nucleotide variant Pathogenic rs777257591 GRCh38 Chromosome 20, 63442447: 63442447
26 KCNQ2 NM_172107.3(KCNQ2): c.775G> T (p.Asp259Tyr) single nucleotide variant Pathogenic rs777257591 GRCh37 Chromosome 20, 62073800: 62073800
27 KCNQ2 NM_172107.3(KCNQ2): c.319C> T (p.Leu107Phe) single nucleotide variant Pathogenic rs864321712 GRCh37 Chromosome 20, 62078168: 62078168
28 KCNQ2 NM_172107.3(KCNQ2): c.319C> T (p.Leu107Phe) single nucleotide variant Pathogenic rs864321712 GRCh38 Chromosome 20, 63446815: 63446815
29 KCNQ2 NM_172107.3(KCNQ2): c.1639C> G (p.Arg547Gly) single nucleotide variant Likely pathogenic rs796052650 GRCh38 Chromosome 20, 63413574: 63413574
30 KCNQ2 NM_172107.3(KCNQ2): c.1639C> G (p.Arg547Gly) single nucleotide variant Likely pathogenic rs796052650 GRCh37 Chromosome 20, 62044927: 62044927
31 KCNQ2 NM_172109.2(KCNQ2): c.1120T> C (p.Tyr374His) single nucleotide variant Pathogenic rs886042605 GRCh37 Chromosome 20, 62065160: 62065160
32 KCNQ2 NM_172109.2(KCNQ2): c.1120T> C (p.Tyr374His) single nucleotide variant Pathogenic rs886042605 GRCh38 Chromosome 20, 63433807: 63433807
33 KCNA1 NM_000217.2(KCNA1): c.-1040G> T single nucleotide variant Uncertain significance rs886049498 GRCh38 Chromosome 12, 4909972: 4909972
34 KCNA1 NM_000217.2(KCNA1): c.-1040G> T single nucleotide variant Uncertain significance rs886049498 GRCh37 Chromosome 12, 5019138: 5019138
35 KCNA1 NM_000217.2(KCNA1): c.-968C> T single nucleotide variant Uncertain significance rs886049500 GRCh38 Chromosome 12, 4910044: 4910044
36 KCNA1 NM_000217.2(KCNA1): c.-968C> T single nucleotide variant Uncertain significance rs886049500 GRCh37 Chromosome 12, 5019210: 5019210
37 KCNA1 NM_000217.2(KCNA1): c.-291_-289delACA deletion Uncertain significance rs886049506 GRCh37 Chromosome 12, 5020254: 5020256
38 KCNA1 NM_000217.2(KCNA1): c.-291_-289delACA deletion Uncertain significance rs886049506 GRCh38 Chromosome 12, 4911088: 4911090
39 KCNA1 NM_000217.2(KCNA1): c.412A> C (p.Lys138Gln) single nucleotide variant Uncertain significance rs886049511 GRCh37 Chromosome 12, 5020956: 5020956
40 KCNA1 NM_000217.2(KCNA1): c.412A> C (p.Lys138Gln) single nucleotide variant Uncertain significance rs886049511 GRCh38 Chromosome 12, 4911790: 4911790
41 KCNA1 NM_000217.2(KCNA1): c.1464G> A (p.Lys488=) single nucleotide variant Conflicting interpretations of pathogenicity rs147828649 GRCh37 Chromosome 12, 5022008: 5022008
42 KCNA1 NM_000217.2(KCNA1): c.1464G> A (p.Lys488=) single nucleotide variant Conflicting interpretations of pathogenicity rs147828649 GRCh38 Chromosome 12, 4912842: 4912842
43 KCNA1 NM_000217.2(KCNA1): c.*234A> T single nucleotide variant Uncertain significance rs886049514 GRCh37 Chromosome 12, 5022266: 5022266
44 KCNA1 NM_000217.2(KCNA1): c.*234A> T single nucleotide variant Uncertain significance rs886049514 GRCh38 Chromosome 12, 4913100: 4913100
45 KCNA1 NM_000217.2(KCNA1): c.*486G> C single nucleotide variant Uncertain significance rs764863360 GRCh37 Chromosome 12, 5022518: 5022518
46 KCNA1 NM_000217.2(KCNA1): c.*486G> C single nucleotide variant Uncertain significance rs764863360 GRCh38 Chromosome 12, 4913352: 4913352
47 KCNA1 NM_000217.2(KCNA1): c.*511A> G single nucleotide variant Uncertain significance rs886049515 GRCh37 Chromosome 12, 5022543: 5022543
48 KCNA1 NM_000217.2(KCNA1): c.*511A> G single nucleotide variant Uncertain significance rs886049515 GRCh38 Chromosome 12, 4913377: 4913377
49 KCNA1 NM_000217.2(KCNA1): c.*724G> A single nucleotide variant Uncertain significance rs886049516 GRCh38 Chromosome 12, 4913590: 4913590
50 KCNA1 NM_000217.2(KCNA1): c.*724G> A single nucleotide variant Uncertain significance rs886049516 GRCh37 Chromosome 12, 5022756: 5022756

Expression for Seizures, Benign Familial Neonatal, 1

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