BFNS1
MCID: SZR008
MIFTS: 32

Seizures, Benign Neonatal, 1 (BFNS1) malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Seizures, Benign Neonatal, 1

Aliases & Descriptions for Seizures, Benign Neonatal, 1:

Name: Seizures, Benign Neonatal, 1 54
Myokymia 54 29 13
Seizures, Benign Familial Neonatal 1 66 29
Myokymia with Neonatal Epilepsy 66 69
Convulsions Benign Familial Neonatal 1 with Myokymia 66
Benign Neonatal Epilepsy 1 and/or Myokymia 66
Benign Neonatal Epilepsy 1 with Myokymia 66
Benign Neonatal Epilepsy Atypical Severe 66
Benign Familial Neonatal Convulsions 1 66
Seizures, Benign Familial Neonatal, 1 69
Benign Neonatal Epilepsy 1 66
Bfnc/myokymia Syndrome 66
Myokymia Isolated 66
Bfnc1 66
Bfns1 66
Ebn1 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 121200

Summaries for Seizures, Benign Neonatal, 1

UniProtKB/Swiss-Prot : 66 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 Neonatal, 1, also known as myokymia, is related to dyskinesia, familial, with facial myokymia and episodic ataxia/myokymia syndrome, and has symptoms including myokymia, global developmental delay and generalized tonic-clonic seizures. An important gene associated with Seizures, Benign Neonatal, 1 is KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2). Affiliated tissues include skin and skeletal muscle.

OMIM : 54 Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in... (121200) more...

Related Diseases for Seizures, Benign Neonatal, 1

Diseases in the Benign Neonatal Seizures family:

Seizures, Benign Neonatal, Type 2 Seizures, Benign Neonatal, 1
Seizures Benign Familial Neonatal Recessive Form

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

(show top 50) (show all 73)
id Related Disease Score Top Affiliating Genes
1 dyskinesia, familial, with facial myokymia 12.3
2 episodic ataxia/myokymia syndrome 12.3
3 isolated facial myokymia 12.0
4 myokymia with neonatal epilepsy 11.9
5 myokymia 1 with or without hypomagnesemia 11.8
6 episodic ataxia 11.4
7 adcy5-related dyskinesia 11.1
8 neuromyotonia and axonal neuropathy, autosomal recessive 11.0
9 seizures, benign familial infantile, 3 10.8
10 seizures, benign neonatal, type 2 10.8
11 seizures, benign familial infantile, 1 10.8
12 epileptic encephalopathy, early infantile, 7 10.8
13 episodic ataxia, type 3 10.7
14 ataxia 10.1
15 myotonia 9.8
16 tremor 9.8
17 glioma 9.8
18 neuronitis 9.8
19 hemifacial spasm 9.8
20 neuropathy 9.8
21 myoclonus 9.7
22 lateral sclerosis 9.7
23 motor neuron disease 9.7
24 spasticity 9.7
25 thymoma 9.7
26 laryngitis 9.7
27 ptosis 9.7
28 nasopharyngeal carcinoma 9.7
29 nasopharyngitis 9.7
30 polyradiculoneuropathy 9.7
31 dystonia 9.7
32 medulloblastoma 9.5
33 charcot-marie-tooth disease 9.5
34 hypothyroidism 9.5
35 thyroiditis 9.5
36 hepatitis 9.5
37 communicating hydrocephalus 9.5
38 hepatitis b 9.5
39 epilepsy 9.5
40 muscle hypertrophy 9.5
41 hereditary ataxia 9.5
42 melanoma 9.5
43 hydrocephalus 9.5
44 eosinophilia-myalgia syndrome 9.5
45 neurosarcoidosis 9.5
46 cerebellar ataxia 9.5
47 cervicitis 9.5
48 hypoglycemia 9.5
49 multiple system atrophy 9.5
50 retinitis pigmentosa 9.5

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



Diseases related to Seizures, Benign Neonatal, 1

Symptoms & Phenotypes for Seizures, Benign Neonatal, 1

Symptoms by clinical synopsis from OMIM:

121200

Clinical features from OMIM:

121200

Human phenotypes related to Seizures, Benign Neonatal, 1:

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

UMLS symptoms related to Seizures, Benign Neonatal, 1:


myokymia

Drugs & Therapeutics for Seizures, Benign Neonatal, 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Inherited Myokymia: A Clinical and Genetic Study of a Family Unknown status NCT01250704

Search NIH Clinical Center for Seizures, Benign Neonatal, 1

Genetic Tests for Seizures, Benign Neonatal, 1

Genetic tests related to Seizures, Benign Neonatal, 1:

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

Anatomical Context for Seizures, Benign Neonatal, 1

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

39
Skin, Skeletal Muscle

Publications for Seizures, Benign Neonatal, 1

Variations for Seizures, Benign Neonatal, 1

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

66
id 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

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

6 (show top 50) (show all 108)
id 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.916G> A (p.Ala306Thr) single nucleotide variant Pathogenic rs74315390 GRCh37 Chromosome 20, 62070962: 62070962
3 KCNQ2 KCNQ2, 1-BP DEL, 1846T deletion Pathogenic
4 KCNQ2 NM_172107.3(KCNQ2): c.640C> T (p.Arg214Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28939684 GRCh37 Chromosome 20, 62076062: 62076062
5 KCNQ2 NM_172107.3(KCNQ2): c.619C> T (p.Arg207Trp) single nucleotide variant Pathogenic rs74315391 GRCh37 Chromosome 20, 62076083: 62076083
6 KCNQ2 KCNQ2, 10-BP DEL/1-BP INS, NT761 indel Pathogenic
7 KCNQ2 NM_172107.3(KCNQ2): c.1662G> T (p.Lys554Asn) single nucleotide variant Pathogenic rs267607198 GRCh37 Chromosome 20, 62044904: 62044904
8 KCNQ2 NM_172107.3(KCNQ2): c.2127delT (p.Val710Serfs) deletion Pathogenic rs118192244 GRCh37 Chromosome 20, 62038489: 62038489
9 KCNQ2 NM_172107.3(KCNQ2): c.1016T> G (p.Leu339Arg) single nucleotide variant Pathogenic rs118192217 GRCh37 Chromosome 20, 62069985: 62069985
10 KCNQ2 NM_172107.3(KCNQ2): c.1057C> G (p.Arg353Gly) single nucleotide variant Pathogenic rs118192218 GRCh37 Chromosome 20, 62065223: 62065223
11 KCNQ2 NM_172107.3(KCNQ2): c.1076C> A (p.Thr359Lys) single nucleotide variant Pathogenic rs118192219 GRCh37 Chromosome 20, 62065204: 62065204
12 KCNQ2 NM_172107.3(KCNQ2): c.1118+1G> A single nucleotide variant Pathogenic rs397507449 GRCh37 Chromosome 20, 62065161: 62065161
13 KCNQ2 NM_172107.3(KCNQ2): c.1192_1193delAA (p.Lys398Glufs) deletion Pathogenic rs118192222 GRCh37 Chromosome 20, 62059744: 62059745
14 KCNQ2 NM_172107.3(KCNQ2): c.1217+2T> G single nucleotide variant Pathogenic rs118192223 GRCh37 Chromosome 20, 62059718: 62059718
15 KCNQ2 NM_172107.3(KCNQ2): c.1288C> T (p.Pro430Ser) single nucleotide variant Pathogenic rs118192224 GRCh37 Chromosome 20, 62050985: 62050985
16 KCNQ2 NM_172107.3(KCNQ2): c.1910T> G (p.Leu637Arg) single nucleotide variant Pathogenic rs118192240 GRCh38 Chromosome 20, 63407353: 63407353
17 KCNQ2 NM_172107.3(KCNQ2): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs118192226 GRCh37 Chromosome 20, 62046439: 62046439
18 KCNQ2 NM_172107.3(KCNQ2): c.1525+1G> A single nucleotide variant Pathogenic rs118192228 GRCh37 Chromosome 20, 62046255: 62046255
19 KCNQ2 NM_172107.3(KCNQ2): c.1632-1G> T single nucleotide variant Pathogenic rs118192233 GRCh37 Chromosome 20, 62044935: 62044935
20 KCNQ2 NM_172107.3(KCNQ2): c.1658G> A (p.Arg553Gln) single nucleotide variant Pathogenic rs118192234 GRCh37 Chromosome 20, 62044908: 62044908
21 KCNQ2 NM_172107.3(KCNQ2): c.1741C> T (p.Arg581Ter) single nucleotide variant Pathogenic rs118192236 GRCh37 Chromosome 20, 62044825: 62044825
22 KCNQ2 NM_172107.3(KCNQ2): c.1742G> A (p.Arg581Gln) single nucleotide variant Pathogenic/Likely pathogenic rs118192235 GRCh37 Chromosome 20, 62044824: 62044824
23 KCNQ2 NM_172107.3(KCNQ2): c.1764A> T (p.Arg588Ser) single nucleotide variant Pathogenic rs118192237 GRCh37 Chromosome 20, 62039889: 62039889
24 KCNQ2 NM_172107.3(KCNQ2): c.1930delT (p.Tyr644Thrfs) deletion Pathogenic rs118192241 GRCh37 Chromosome 20, 62038686: 62038686
25 KCNQ2 NM_172107.3(KCNQ2): c.1956delG (p.Thr653Glnfs) deletion Pathogenic rs118192242 GRCh37 Chromosome 20, 62038660: 62038660
26 KCNQ2 NM_172107.3(KCNQ2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs118192185 GRCh37 Chromosome 20, 62103816: 62103816
27 KCNQ2 NM_172107.3(KCNQ2): c.2015delG (p.Ser672Thrfs) deletion Pathogenic rs118192243 GRCh37 Chromosome 20, 62038601: 62038601
28 KCNQ2 NM_172107.3(KCNQ2): c.204dupC (p.Lys69Glnfs) duplication Pathogenic rs118192188 GRCh37 Chromosome 20, 62103613: 62103613
29 KCNQ2 NM_172107.3(KCNQ2): c.232delC (p.Gln78Argfs) deletion Pathogenic rs118192189 GRCh37 Chromosome 20, 62103585: 62103585
30 KCNQ2 NM_172107.3(KCNQ2): c.2597delG (p.Gly866Alafs) deletion Pathogenic rs118192245 GRCh37 Chromosome 20, 62038019: 62038019
31 KCNQ2 NM_172107.3(KCNQ2): c.2605_2609dupGGGCC (p.Arg871Glyfs) duplication Pathogenic rs118192246 GRCh37 Chromosome 20, 62038007: 62038011
32 KCNQ2 NM_172107.3(KCNQ2): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs118192186 GRCh37 Chromosome 20, 62103815: 62103815
33 KCNQ2 NM_172107.2(KCNQ2): c.314_316delCCT (p.Ser105del) deletion Pathogenic rs118192191 GRCh37 Chromosome 20, 62078171: 62078173
34 KCNQ2 NM_172107.3(KCNQ2): c.356A> G (p.Glu119Gly) single nucleotide variant Pathogenic rs118192193 GRCh37 Chromosome 20, 62078131: 62078131
35 KCNQ2 NM_172107.3(KCNQ2): c.365C> T (p.Ser122Leu) single nucleotide variant Pathogenic rs118192194 GRCh37 Chromosome 20, 62078122: 62078122
36 KCNQ2 NM_172107.3(KCNQ2): c.387+1G> T single nucleotide variant Pathogenic rs118192195 GRCh37 Chromosome 20, 62078099: 62078099
37 KCNQ2 NM_172107.3(KCNQ2): c.388-2_388delAGG deletion Pathogenic rs118192196 GRCh37 Chromosome 20, 62076717: 62076719
38 KCNQ2 NM_172107.3(KCNQ2): c.585dupT (p.Ala196Cysfs) duplication Pathogenic rs118192198 GRCh37 Chromosome 20, 62076117: 62076117
39 KCNQ2 NM_172107.3(KCNQ2): c.587C> T (p.Ala196Val) single nucleotide variant Pathogenic rs118192199 GRCh37 Chromosome 20, 62076115: 62076115
40 KCNQ2 NM_172107.3(KCNQ2): c.622A> G (p.Met208Val) single nucleotide variant Pathogenic rs118192201 GRCh37 Chromosome 20, 62076080: 62076080
41 KCNQ2 NM_172107.3(KCNQ2): c.635A> G (p.Asp212Gly) single nucleotide variant Pathogenic rs118192202 GRCh37 Chromosome 20, 62076067: 62076067
42 KCNQ2 NM_172107.3(KCNQ2): c.63_66delGGTG (p.Val22Alafs) deletion Pathogenic rs118192187 GRCh37 Chromosome 20, 62103751: 62103754
43 KCNQ2 NM_172107.3(KCNQ2): c.684C> A (p.His228Gln) single nucleotide variant Pathogenic rs118192204 GRCh37 Chromosome 20, 62076018: 62076018
44 KCNQ2 NM_172107.3(KCNQ2): c.727C> T (p.Leu243Phe) single nucleotide variant Pathogenic rs118192205 GRCh37 Chromosome 20, 62073848: 62073848
45 KCNQ2 NM_172107.3(KCNQ2): c.740C> A (p.Ser247Ter) single nucleotide variant Pathogenic rs74315392 GRCh37 Chromosome 20, 62073835: 62073835
46 KCNQ2 NM_172107.3(KCNQ2): c.749T> G (p.Val250Gly) single nucleotide variant Pathogenic rs118192206 GRCh37 Chromosome 20, 62073826: 62073826
47 KCNQ2 NM_172107.3(KCNQ2): c.773A> G (p.Asn258Ser) single nucleotide variant Pathogenic rs118192207 GRCh37 Chromosome 20, 62073802: 62073802
48 KCNQ2 NM_172107.3(KCNQ2): c.807G> A (p.Trp269Ter) single nucleotide variant Pathogenic rs118192208 GRCh37 Chromosome 20, 62073768: 62073768
49 KCNQ2 NM_172107.3(KCNQ2): c.812G> T (p.Gly271Val) single nucleotide variant Pathogenic rs118192209 GRCh37 Chromosome 20, 62073763: 62073763
50 KCNQ2 NM_172107.3(KCNQ2): c.847_848insGT (p.Lys283Serfs) insertion Pathogenic rs118192210 GRCh37 Chromosome 20, 62071030: 62071031

Expression for Seizures, Benign Neonatal, 1

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