BFNS1
MCID: SZR022
MIFTS: 37

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, skeletal muscle and brain, and related phenotypes are global developmental delay and generalized tonic-clonic seizures

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 78)
# 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 11.8
6 episodic ataxia 11.5
7 adcy5-related dyskinesia 11.3
8 benign familial neonatal epilepsy 11.1
9 seizures, benign familial neonatal, 2 11.1
10 seizures, benign familial infantile, 1 11.1
11 seizures, benign familial infantile, 3 11.1
12 spinocerebellar ataxia 14 11.0
13 blepharospasm 11.0
14 episodic ataxia, type 3 11.0
15 multiple sclerosis 10.3
16 myotonia 10.1
17 glioma 10.1
18 myoclonus 10.1
19 tremor 10.1
20 hemifacial spasm 10.1
21 motor neuron disease 10.0
22 amyotrophic lateral sclerosis 1 9.9
23 nasopharyngeal carcinoma 9.9
24 ptosis 9.9
25 autosomal dominant cerebellar ataxia 9.9
26 lateral sclerosis 9.9
27 thymoma 9.9
28 polyradiculoneuropathy 9.9
29 dystonia 9.9
30 neuropathy 9.9
31 pseudomyotonia 9.9
32 multiple system atrophy 1 9.8
33 medulloblastoma 9.8
34 alexander disease 9.8
35 retinitis pigmentosa 9.8
36 aceruloplasminemia 9.8
37 leber congenital amaurosis 4 9.8
38 muscle hypertrophy 9.8
39 arteriovenous fistula 9.8
40 charcot-marie-tooth disease 9.8
41 hepatitis 9.8
42 hepatitis b 9.8
43 hereditary ataxia 9.8
44 hereditary spastic paraplegia 9.8
45 hydrocephalus 9.8
46 spinal stenosis 9.8
47 scoliosis 9.8
48 dermatomyositis 9.8
49 tooth disease 9.8
50 bell's palsy 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

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 generalized tonic-clonic seizures 32 HP:0002069
3 motor delay 32 occasional (7.5%) HP:0001270
4 febrile seizures 32 occasional (7.5%) HP:0002373
5 myokymia 32 HP:0002411
6 focal clonic seizures 32 HP:0002266

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, Brain, Smooth Muscle, Tongue

Publications for Seizures, Benign Familial Neonatal, 1

Articles related to Seizures, Benign Familial Neonatal, 1:

(show all 30)
# Title Authors Year
1
Superior oblique myokymia. ( 29056504 )
2018
2
Superior oblique myokymia treated with levobunolol. ( 29277497 )
2018
3
Mystery Case: Superior oblique myokymia: An uncommon cause of intermittent diplopia. ( 29483324 )
2018
4
Eyelid Myokymia with Concomitant Cerebral Tumour: A Case Report. ( 29796047 )
2018
5
Superior oblique myokymia. ( 30061333 )
2018
6
Recurrent Superior Oblique Myokymia Treated by Distal Tendon Extirpation. ( 30289792 )
2018
7
Teaching Video NeuroImages: Facial myokymia and myorhythmia in anti-IgLON5 disease: The bitten lip. ( 30348862 )
2018
8
Three dimensional video-oculography and thin-slice magnetic resonance imaging in a patient with superior oblique myokymia. ( 28566142 )
2017
9
Hypoglossal myokymia presenting as paroxysmal dysarthria following head and neck radiotherapy. ( 28705952 )
2017
10
Unilateral tongue myokymia - A rare topodiagnostic sign of different clinical conditions. ( 28765061 )
2017
11
Clinical and Oculographic Analysis of Inferior Oblique Myokymia. ( 28991103 )
2017
12
Multiple Sclerosis Presenting with Facial Twitching (Myokymia and Hemifacial Spasms). ( 29075542 )
2017
13
Cardinal features of superior oblique myokymia: An infrared oculography study. ( 29260093 )
2017
14
Superior Oblique Myokymia: Some Novel Observations. ( 29279659 )
2017
15
Topiramate-Induced Persistent Eyelid Myokymia. ( 27293943 )
2016
16
Tongue myokymia presenting twelve years after radiation therapy. ( 30214958 )
2016
17
Alternating superior and inferior oblique myokymia. ( 25010174 )
2014
18
Images in clinical medicine. Perioral myokymia. ( 23343078 )
2013
19
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. ( 22782511 )
2012
20
Eyelid myokymia: not always benign. ( 21957885 )
2011
21
Clinical and electrophysiological characterization of myokymia and neuromyotonia in Jack Russell Terriers. ( 20492485 )
2010
22
Facial myokymia in brain death. ( 11328330 )
2001
23
Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. ( 11572947 )
2001
24
Magnetic resonance imaging of the superior oblique muscle in superior oblique myokymia. ( 7714701 )
1994
25
Suspected myokymia in a Yorkshire terrier. ( 8337804 )
1993
26
Facial myokymia in the Guillain-Barré syndrome: a clinicopathologic study. ( 7201111 )
1982
27
Superior oblique myokymia. ( 749598 )
1978
28
Duane's uniocular micro-tremor or superior oblique myokymia of Hoyt and Keane. ( 923408 )
1977
29
Facial myokymia: a clue to the diagnosis of multiple sclerosis. ( 4650779 )
1972
30
Facial myokymia affecting the electroencephalogram. ( 5297878 )
1967

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 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 462)
# 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 NM_172107.3(KCNQ2): c.619C> T (p.Arg207Trp) single nucleotide variant Pathogenic rs74315391 GRCh37 Chromosome 20, 62076083: 62076083
9 KCNQ2 NM_172107.3(KCNQ2): c.619C> T (p.Arg207Trp) single nucleotide variant Pathogenic rs74315391 GRCh38 Chromosome 20, 63444730: 63444730
10 KCNQ2 KCNQ2, 10-BP DEL/1-BP INS, NT761 indel Pathogenic
11 KCNQ2 NM_172107.3(KCNQ2): c.1662G> T (p.Lys554Asn) single nucleotide variant Pathogenic rs267607198 GRCh37 Chromosome 20, 62044904: 62044904
12 KCNQ2 NM_172107.3(KCNQ2): c.1662G> T (p.Lys554Asn) single nucleotide variant Pathogenic rs267607198 GRCh38 Chromosome 20, 63413551: 63413551
13 KCNQ2 NM_172107.3(KCNQ2): c.2127delT (p.Val710Serfs) deletion Pathogenic rs118192244 GRCh37 Chromosome 20, 62038489: 62038489
14 KCNQ2 NM_172107.3(KCNQ2): c.2127delT (p.Val710Serfs) deletion Pathogenic rs118192244 GRCh38 Chromosome 20, 63407136: 63407136
15 KCNA1 NM_000217.2(KCNA1): c.684T> C (p.Cys228=) single nucleotide variant Benign rs1048500 GRCh37 Chromosome 12, 5021228: 5021228
16 KCNA1 NM_000217.2(KCNA1): c.684T> C (p.Cys228=) single nucleotide variant Benign rs1048500 GRCh38 Chromosome 12, 4912062: 4912062
17 KCNA1 NM_000217.2(KCNA1): c.804G> C (p.Thr268=) single nucleotide variant Benign rs2227910 GRCh37 Chromosome 12, 5021348: 5021348
18 KCNA1 NM_000217.2(KCNA1): c.804G> C (p.Thr268=) single nucleotide variant Benign rs2227910 GRCh38 Chromosome 12, 4912182: 4912182
19 KCNQ2 NM_172107.3(KCNQ2): c.1016T> G (p.Leu339Arg) single nucleotide variant Pathogenic rs118192217 GRCh38 Chromosome 20, 63438632: 63438632
20 KCNQ2 NM_172107.3(KCNQ2): c.1016T> G (p.Leu339Arg) single nucleotide variant Pathogenic rs118192217 GRCh37 Chromosome 20, 62069985: 62069985
21 KCNQ2 NM_172107.3(KCNQ2): c.1057C> G (p.Arg353Gly) single nucleotide variant Pathogenic rs118192218 GRCh37 Chromosome 20, 62065223: 62065223
22 KCNQ2 NM_172107.3(KCNQ2): c.1057C> G (p.Arg353Gly) single nucleotide variant Pathogenic rs118192218 GRCh38 Chromosome 20, 63433870: 63433870
23 KCNQ2 NM_172107.3(KCNQ2): c.1076C> A (p.Thr359Lys) single nucleotide variant Pathogenic rs118192219 GRCh37 Chromosome 20, 62065204: 62065204
24 KCNQ2 NM_172107.3(KCNQ2): c.1076C> A (p.Thr359Lys) single nucleotide variant Pathogenic rs118192219 GRCh38 Chromosome 20, 63433851: 63433851
25 KCNQ2 NM_172107.3(KCNQ2): c.1118+1G> A single nucleotide variant Pathogenic rs397507449 GRCh37 Chromosome 20, 62065161: 62065161
26 KCNQ2 NM_172107.3(KCNQ2): c.1118+1G> A single nucleotide variant Pathogenic rs397507449 GRCh38 Chromosome 20, 63433808: 63433808
27 KCNQ2 NM_172107.3(KCNQ2): c.1192_1193delAA (p.Lys398Glufs) deletion Pathogenic rs118192222 GRCh37 Chromosome 20, 62059744: 62059745
28 KCNQ2 NM_172107.3(KCNQ2): c.1192_1193delAA (p.Lys398Glufs) deletion Pathogenic rs118192222 GRCh38 Chromosome 20, 63428391: 63428392
29 KCNQ2 NM_172107.3(KCNQ2): c.1217+2T> G single nucleotide variant Pathogenic rs118192223 GRCh37 Chromosome 20, 62059718: 62059718
30 KCNQ2 NM_172107.3(KCNQ2): c.1217+2T> G single nucleotide variant Pathogenic rs118192223 GRCh38 Chromosome 20, 63428365: 63428365
31 KCNQ2 NM_172107.3(KCNQ2): c.1288C> T (p.Pro430Ser) single nucleotide variant Pathogenic rs118192224 GRCh37 Chromosome 20, 62050985: 62050985
32 KCNQ2 NM_172107.3(KCNQ2): c.1288C> T (p.Pro430Ser) single nucleotide variant Pathogenic rs118192224 GRCh38 Chromosome 20, 63419632: 63419632
33 KCNQ2 NM_172107.3(KCNQ2): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs118192226 GRCh37 Chromosome 20, 62046439: 62046439
34 KCNQ2 NM_172107.3(KCNQ2): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs118192226 GRCh38 Chromosome 20, 63415086: 63415086
35 KCNQ2 NM_172107.3(KCNQ2): c.1525+1G> A single nucleotide variant Pathogenic rs118192228 GRCh37 Chromosome 20, 62046255: 62046255
36 KCNQ2 NM_172107.3(KCNQ2): c.1525+1G> A single nucleotide variant Pathogenic rs118192228 GRCh38 Chromosome 20, 63414902: 63414902
37 KCNQ2 NM_172107.3(KCNQ2): c.1545G> C (p.Glu515Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs117067974 GRCh37 Chromosome 20, 62045527: 62045527
38 KCNQ2 NM_172107.2(KCNQ2): c.314_316delCCT (p.Ser105del) deletion Pathogenic rs118192191 GRCh38 Chromosome 20, 63446818: 63446820
39 KCNQ2 NM_172107.3(KCNQ2): c.1545G> C (p.Glu515Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs117067974 GRCh38 Chromosome 20, 63414174: 63414174
40 KCNQ2 NM_172107.3(KCNQ2): c.1632-1G> T single nucleotide variant Pathogenic rs118192233 GRCh37 Chromosome 20, 62044935: 62044935
41 KCNQ2 NM_172107.3(KCNQ2): c.1632-1G> T single nucleotide variant Pathogenic rs118192233 GRCh38 Chromosome 20, 63413582: 63413582
42 KCNQ2 NM_172107.3(KCNQ2): c.1658G> A (p.Arg553Gln) single nucleotide variant Pathogenic rs118192234 GRCh37 Chromosome 20, 62044908: 62044908
43 KCNQ2 NM_172107.3(KCNQ2): c.1658G> A (p.Arg553Gln) single nucleotide variant Pathogenic rs118192234 GRCh38 Chromosome 20, 63413555: 63413555
44 KCNQ2 NM_172107.3(KCNQ2): c.1741C> T (p.Arg581Ter) single nucleotide variant Pathogenic rs118192236 GRCh37 Chromosome 20, 62044825: 62044825
45 KCNQ2 NM_172107.3(KCNQ2): c.1741C> T (p.Arg581Ter) single nucleotide variant Pathogenic rs118192236 GRCh38 Chromosome 20, 63413472: 63413472
46 KCNQ2 NM_172107.3(KCNQ2): c.1742G> A (p.Arg581Gln) single nucleotide variant Likely pathogenic rs118192235 GRCh37 Chromosome 20, 62044824: 62044824
47 KCNQ2 NM_172107.3(KCNQ2): c.1742G> A (p.Arg581Gln) single nucleotide variant Likely pathogenic rs118192235 GRCh38 Chromosome 20, 63413471: 63413471
48 KCNQ2 NM_172107.3(KCNQ2): c.1764A> T (p.Arg588Ser) single nucleotide variant Pathogenic rs118192237 GRCh37 Chromosome 20, 62039889: 62039889
49 KCNQ2 NM_172107.3(KCNQ2): c.1764A> T (p.Arg588Ser) single nucleotide variant Pathogenic rs118192237 GRCh38 Chromosome 20, 63408536: 63408536
50 KCNQ2 NM_172107.3(KCNQ2): c.1910T> G (p.Leu637Arg) single nucleotide variant Pathogenic rs118192240 GRCh37 Chromosome 20, 62038706: 62038706

Expression for Seizures, Benign Familial Neonatal, 1

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