BFNS1
MCID: SZR022
MIFTS: 36

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 58 74
Myokymia 58 30 13 6
Benign Familial Neonatal Seizures 1 30 6
Myokymia with Neonatal Epilepsy 76 74
Bfns1 58 76
Convulsions Benign Familial Neonatal 1 with Myokymia 76
Benign Neonatal Epilepsy 1 and/or Myokymia 76
Benign Neonatal Epilepsy 1 with Myokymia 76
Benign Neonatal Epilepsy Atypical Severe 76
Benign Familial Neonatal Convulsions 1 76
Seizures, Benign Familial Neonatal 1 76
Seizures, Benign Neonatal, Type 1 41
Seizures, Benign Neonatal, 1 58
Benign Neonatal Epilepsy 1 76
Bfnc/myokymia Syndrome 76
Myokymia Isolated 76
Bfnc1 76
Ebn1 76

Characteristics:

OMIM:

58
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:

33
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 : 76 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, skeletal muscle and tongue, and related phenotypes are global developmental delay and motor delay

OMIM : 58 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 84)
# Related Disease Score Top Affiliating Genes
1 dyskinesia, familial, with facial myokymia 12.7
2 isolated facial myokymia 12.3
3 myokymia with neonatal epilepsy 12.2
4 episodic ataxia, type 1 12.0
5 neuromyotonia and axonal neuropathy, autosomal recessive 11.9
6 episodic ataxia, type 3 11.6
7 episodic ataxia 11.5
8 adcy5-related dyskinesia 11.4
9 benign familial neonatal epilepsy 11.2
10 seizures, benign familial neonatal, 2 11.1
11 seizures, benign familial infantile, 1 11.1
12 seizures, benign familial infantile, 3 11.1
13 spinocerebellar ataxia 14 11.0
14 episodic ataxia, type 8 11.0
15 blepharospasm 11.0
16 morvan's fibrillary chorea 11.0
17 heiner syndrome 10.5
18 multiple sclerosis 10.3
19 myotonia 10.2
20 glioma 10.1
21 myoclonus 10.1
22 tremor 10.1
23 hemifacial spasm 10.1
24 intraocular pressure quantitative trait locus 10.1
25 nodular lymphocyte predominant hodgkin lymphoma 10.1
26 motor neuron disease 10.1
27 amyotrophic lateral sclerosis 1 10.0
28 nasopharyngeal carcinoma 10.0
29 ptosis 10.0
30 autosomal dominant cerebellar ataxia 10.0
31 lateral sclerosis 10.0
32 thymoma 10.0
33 polyradiculoneuropathy 10.0
34 dystonia 10.0
35 neuropathy 10.0
36 pseudomyotonia 10.0
37 hemifacial atrophy, progressive 9.8
38 multiple system atrophy 1 9.8
39 medulloblastoma 9.8
40 alexander disease 9.8
41 retinitis pigmentosa 9.8
42 aceruloplasminemia 9.8
43 leber congenital amaurosis 4 9.8
44 muscle hypertrophy 9.8
45 arteriovenous fistula 9.8
46 charcot-marie-tooth disease 9.8
47 hepatitis 9.8
48 hepatitis b 9.8
49 hereditary ataxia 9.8
50 hereditary spastic paraplegia 9.8

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

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

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 occasional (7.5%) HP:0001263
2 motor delay 33 occasional (7.5%) HP:0001270
3 febrile seizures 33 occasional (7.5%) HP:0002373
4 generalized tonic-clonic seizures 33 HP:0002069
5 myokymia 33 HP:0002411
6 focal clonic seizures 33 HP:0002266

Symptoms via clinical synopsis from OMIM:

58
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

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 30
2 Myokymia 30

Anatomical Context for Seizures, Benign Familial Neonatal, 1

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

42
Skin, Skeletal Muscle, Tongue, Brain

Publications for Seizures, Benign Familial Neonatal, 1

Articles related to Seizures, Benign Familial Neonatal, 1:

(show all 22)
# Title Authors Year
1
Herculean Boy With Facial Myokymia. ( 30898413 )
2019
2
Intermittent Myokymia as a Pointer to Hemangioblastoma of the Cervical Spine: A Case Report. ( 30627100 )
2018
3
Superior oblique myokymia. ( 29056504 )
2018
4
Superior oblique myokymia treated with levobunolol. ( 29277497 )
2018
5
Mystery Case: Superior oblique myokymia: An uncommon cause of intermittent diplopia. ( 29483324 )
2018
6
Eyelid Myokymia with Concomitant Cerebral Tumour: A Case Report. ( 29796047 )
2018
7
Superior oblique myokymia. ( 30061333 )
2018
8
Recurrent Superior Oblique Myokymia Treated by Distal Tendon Extirpation. ( 30289792 )
2018
9
Teaching Video NeuroImages: Facial myokymia and myorhythmia in anti-IgLON5 disease: The bitten lip. ( 30348862 )
2018
10
Three dimensional video-oculography and thin-slice magnetic resonance imaging in a patient with superior oblique myokymia. ( 28566142 )
2017
11
Hypoglossal myokymia presenting as paroxysmal dysarthria following head and neck radiotherapy. ( 28705952 )
2017
12
Unilateral tongue myokymia - A rare topodiagnostic sign of different clinical conditions. ( 28765061 )
2017
13
Clinical and Oculographic Analysis of Inferior Oblique Myokymia. ( 28991103 )
2017
14
Multiple Sclerosis Presenting with Facial Twitching (Myokymia and Hemifacial Spasms). ( 29075542 )
2017
15
Cardinal features of superior oblique myokymia: An infrared oculography study. ( 29260093 )
2017
16
Superior Oblique Myokymia: Some Novel Observations. ( 29279659 )
2017
17
Topiramate-Induced Persistent Eyelid Myokymia. ( 27293943 )
2016
18
Tongue myokymia presenting twelve years after radiation therapy. ( 30214958 )
2016
19
Facial myokymia in brain death. ( 11328330 )
2001
20
Suspected myokymia in a Yorkshire terrier. ( 8337804 )
1993
21
Superior oblique myokymia. ( 749598 )
1978
22
Facial myokymia: a clue to the diagnosis of multiple sclerosis. ( 4650779 )
1972

Variations for Seizures, Benign Familial Neonatal, 1

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

76 (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 rs105751607
11 KCNQ2 p.Tyr154Asp VAR_078659 rs105751607
12 KCNQ2 p.Gly159Glu VAR_078660 rs105751608
13 KCNQ2 p.Gly159Arg VAR_078661 rs105751608
14 KCNQ2 p.Ala196Val VAR_078662 rs118192199
15 KCNQ2 p.Arg213Gln VAR_078666 rs397514581
16 KCNQ2 p.Thr217Ala VAR_078668 rs105751608
17 KCNQ2 p.Arg353Gly VAR_078671 rs118192218
18 KCNQ2 p.Ser358Phe VAR_078672 rs105751611
19 KCNQ2 p.Arg547Trp VAR_078674 rs796052650
20 KCNQ2 p.Met578Val VAR_078677 rs105751612
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 463)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNA1 NM_000217.3(KCNA1): c.*9G> A single nucleotide variant Benign rs4766310 GRCh37 Chromosome 12, 5022041: 5022041
2 KCNA1 NM_000217.3(KCNA1): c.*9G> A single nucleotide variant Benign rs4766310 GRCh38 Chromosome 12, 4912875: 4912875
3 KCNA1 NM_000217.3(KCNA1): c.1296C> G (p.Ser432=) single nucleotide variant Benign rs76066681 GRCh37 Chromosome 12, 5021840: 5021840
4 KCNA1 NM_000217.3(KCNA1): c.1296C> G (p.Ser432=) single nucleotide variant Benign rs76066681 GRCh38 Chromosome 12, 4912674: 4912674
5 KCNQ2 NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic/Likely pathogenic rs794727740 GRCh37 Chromosome 20, 62073782: 62073782
6 KCNQ2 NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic/Likely pathogenic rs794727740 GRCh38 Chromosome 20, 63442429: 63442429
7 KCNQ2 NM_172107.3(KCNQ2): c.775G> T (p.Asp259Tyr) single nucleotide variant Pathogenic rs777257591 GRCh38 Chromosome 20, 63442447: 63442447
8 KCNQ2 NM_172107.3(KCNQ2): c.775G> T (p.Asp259Tyr) single nucleotide variant Pathogenic rs777257591 GRCh37 Chromosome 20, 62073800: 62073800
9 KCNQ2 NM_172107.3(KCNQ2): c.319C> T (p.Leu107Phe) single nucleotide variant Pathogenic rs864321712 GRCh37 Chromosome 20, 62078168: 62078168
10 KCNQ2 NM_172107.3(KCNQ2): c.319C> T (p.Leu107Phe) single nucleotide variant Pathogenic rs864321712 GRCh38 Chromosome 20, 63446815: 63446815
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.1887+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs777916008 GRCh37 Chromosome 20, 62039761: 62039761
14 KCNQ2 NM_172107.3(KCNQ2): c.1887+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs777916008 GRCh38 Chromosome 20, 63408408: 63408408
15 KCNQ2 NM_172109.2(KCNQ2): c.1120T> C (p.Tyr374His) single nucleotide variant Pathogenic rs886042605 GRCh37 Chromosome 20, 62065160: 62065160
16 KCNQ2 NM_172109.2(KCNQ2): c.1120T> C (p.Tyr374His) single nucleotide variant Pathogenic rs886042605 GRCh38 Chromosome 20, 63433807: 63433807
17 KCNA1 NM_000217.3(KCNA1): c.-1034C> T single nucleotide variant Uncertain significance rs886049499 GRCh38 Chromosome 12, 4909978: 4909978
18 KCNA1 NM_000217.3(KCNA1): c.-1034C> T single nucleotide variant Uncertain significance rs886049499 GRCh37 Chromosome 12, 5019144: 5019144
19 KCNA1 NM_000217.3(KCNA1): c.-959C> T single nucleotide variant Benign rs11831584 GRCh38 Chromosome 12, 4910053: 4910053
20 KCNA1 NM_000217.3(KCNA1): c.-959C> T single nucleotide variant Benign rs11831584 GRCh37 Chromosome 12, 5019219: 5019219
21 KCNA1 NM_000217.2(KCNA1): c.-861_-860delAG deletion Likely benign rs566173456 GRCh38 Chromosome 12, 4910151: 4910152
22 KCNA1 NM_000217.2(KCNA1): c.-861_-860delAG deletion Likely benign rs566173456 GRCh37 Chromosome 12, 5019317: 5019318
23 KCNA1 NM_000217.3(KCNA1): c.-478dup duplication Likely benign rs34346629 GRCh38 Chromosome 12, 4910901: 4910901
24 KCNA1 NM_000217.3(KCNA1): c.-478dup duplication Likely benign rs34346629 GRCh37 Chromosome 12, 5020067: 5020067
25 KCNA1 NM_000217.3(KCNA1): c.-230C> G single nucleotide variant Uncertain significance rs886049507 GRCh37 Chromosome 12, 5020315: 5020315
26 KCNA1 NM_000217.3(KCNA1): c.*5209C> T single nucleotide variant Likely benign rs189939908 GRCh37 Chromosome 12, 5027241: 5027241
27 KCNA1 NM_000217.3(KCNA1): c.*5209C> T single nucleotide variant Likely benign rs189939908 GRCh38 Chromosome 12, 4918075: 4918075
28 KCNA1 NM_000217.3(KCNA1): c.*5274A> G single nucleotide variant Uncertain significance rs886049541 GRCh37 Chromosome 12, 5027306: 5027306
29 KCNA1 NM_000217.3(KCNA1): c.*5274A> G single nucleotide variant Uncertain significance rs886049541 GRCh38 Chromosome 12, 4918140: 4918140
30 KCNQ2 NM_172107.3(KCNQ2): c.1764-?_*(455_?)del deletion Pathogenic GRCh37 Chromosome 20, 62037542: 62039889
31 KCNQ2 NM_172107.3(KCNQ2): c.1764-?_*(455_?)del deletion Pathogenic GRCh38 Chromosome 20, 63406189: 63408536
32 KCNQ2 NM_172107.3(KCNQ2): c.1248-?_*(455_?)del deletion Pathogenic GRCh37 Chromosome 20, 62037542: 62051025
33 KCNQ2 NM_172107.3(KCNQ2): c.1248-?_*(455_?)del deletion Pathogenic GRCh38 Chromosome 20, 63406189: 63419672
34 KCNQ2 NM_172107.3(KCNQ2): c.(?_-177)_690+?del deletion Pathogenic GRCh37 Chromosome 20, 62076012: 62103993
35 KCNQ2 NM_172107.3(KCNQ2): c.(?_-177)_690+?del deletion Pathogenic GRCh38 Chromosome 20, 63444659: 63472640
36 KCNQ2 NM_172107.3(KCNQ2): c.2599_2603dup (p.Arg871Glyfs) duplication Likely pathogenic rs1555850151 GRCh38 Chromosome 20, 63406660: 63406664
37 KCNQ2 NM_172107.3(KCNQ2): c.2599_2603dup (p.Arg871Glyfs) duplication Likely pathogenic rs1555850151 GRCh37 Chromosome 20, 62038013: 62038017
38 KCNQ2 NM_172107.3(KCNQ2): c.1856_1886del31 (p.Met619Argfs) deletion Pathogenic rs1555851445 GRCh37 Chromosome 20, 62039767: 62039797
39 KCNQ2 NM_172107.3(KCNQ2): c.1856_1886del31 (p.Met619Argfs) deletion Pathogenic rs1555851445 GRCh38 Chromosome 20, 63408414: 63408444
40 KCNQ2 NM_172107.3(KCNQ2): c.1783C> T (p.Arg595Trp) single nucleotide variant Pathogenic rs1555851550 GRCh37 Chromosome 20, 62039870: 62039870
41 KCNQ2 NM_172107.3(KCNQ2): c.1783C> T (p.Arg595Trp) single nucleotide variant Pathogenic rs1555851550 GRCh38 Chromosome 20, 63408517: 63408517
42 KCNQ2 NM_172107.3(KCNQ2): c.1732A> G (p.Met578Val) single nucleotide variant Likely pathogenic rs1057516123 GRCh38 Chromosome 20, 63413481: 63413481
43 KCNQ2 NM_172107.3(KCNQ2): c.1732A> G (p.Met578Val) single nucleotide variant Likely pathogenic rs1057516123 GRCh37 Chromosome 20, 62044834: 62044834
44 KCNQ2 NM_172107.3(KCNQ2): c.1631+1G> A single nucleotide variant Pathogenic rs1057516121 GRCh37 Chromosome 20, 62045440: 62045440
45 KCNQ2 NM_172107.3(KCNQ2): c.1631+1G> A single nucleotide variant Pathogenic rs1057516121 GRCh38 Chromosome 20, 63414087: 63414087
46 KCNQ2 NM_172107.3(KCNQ2): c.1609A> T (p.Lys537Ter) single nucleotide variant Pathogenic rs1555853983 GRCh37 Chromosome 20, 62045463: 62045463
47 KCNQ2 NM_172107.3(KCNQ2): c.1609A> T (p.Lys537Ter) single nucleotide variant Pathogenic rs1555853983 GRCh38 Chromosome 20, 63414110: 63414110
48 KCNQ2 NM_172107.3(KCNQ2): c.1418_1419delTC (p.Leu473Argfs) deletion Pathogenic rs1057516117 GRCh37 Chromosome 20, 62046362: 62046363
49 KCNQ2 NM_172107.3(KCNQ2): c.1418_1419delTC (p.Leu473Argfs) deletion Pathogenic rs1057516117 GRCh38 Chromosome 20, 63415009: 63415010
50 KCNQ2 NM_172107.3(KCNQ2): c.1247+1G> A single nucleotide variant Pathogenic rs1057516115 GRCh38 Chromosome 20, 63424176: 63424176

Expression for Seizures, Benign Familial Neonatal, 1

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Pathways for Seizures, Benign Familial Neonatal, 1

GO Terms for Seizures, Benign Familial Neonatal, 1

Sources for Seizures, Benign Familial Neonatal, 1

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