BFNS1
MCID: SZR022
MIFTS: 40

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:
Inheritance heterogeneous autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course neonatal onset


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 brain, 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 104)
# 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 12.2
5 neuromyotonia and axonal neuropathy, autosomal recessive 11.9
6 episodic ataxia, type 3 11.7
7 episodic ataxia 11.6
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 11.1
14 episodic ataxia, type 8 11.1
15 blepharospasm 11.1
16 morvan's fibrillary chorea 11.1
17 multiple sclerosis 10.3
18 ataxia and polyneuropathy, adult-onset 10.2
19 intraocular pressure quantitative trait locus 10.2
20 myotonia 10.2
21 glioma 10.1
22 myoclonus 10.1
23 tremor 10.1
24 hemifacial spasm 10.1
25 motor neuron disease 10.0
26 amyotrophic lateral sclerosis 1 10.0
27 thymoma, familial 10.0
28 nasopharyngeal carcinoma 10.0
29 ptosis 10.0
30 cysticercosis 10.0
31 facial paralysis 10.0
32 autosomal dominant cerebellar ataxia 10.0
33 lateral sclerosis 10.0
34 thymoma 10.0
35 polyradiculoneuropathy 10.0
36 dystonia 10.0
37 neuropathy 10.0
38 pseudomyotonia 10.0
39 carpal tunnel syndrome 9.8
40 hemifacial atrophy, progressive 9.8
41 multiple system atrophy 1 9.8
42 medulloblastoma 9.8
43 alexander disease 9.8
44 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8
45 retinitis pigmentosa 9.8
46 graves disease 1 9.8
47 aceruloplasminemia 9.8
48 leber congenital amaurosis 4 9.8
49 meningioma, familial 9.8
50 spastic paraplegia 26, autosomal recessive 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 KCNQ2
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, Brain, Tongue, Smooth Muscle, Eye, Thyroid

Publications for Seizures, Benign Familial Neonatal, 1

Articles related to Seizures, Benign Familial Neonatal, 1:

(show top 50) (show all 296)
# Title Authors Year
1
Focal myokymia in carpal tunnel syndrome. ( 31041139 )
2019
2
Herculean Boy With Facial Myokymia. ( 30898413 )
2019
3
Intermittent Myokymia as a Pointer to Hemangioblastoma of the Cervical Spine: A Case Report. ( 30627100 )
2018
4
Facial Myokymia and Hemifacial Spasm in Multiple Sclerosis: A Descriptive Study on Clinical Features and Treatment Outcomes. ( 29266036 )
2018
5
Superior oblique myokymia. ( 29056504 )
2018
6
Superior oblique myokymia treated with levobunolol. ( 29277497 )
2018
7
Mystery Case: Superior oblique myokymia: An uncommon cause of intermittent diplopia. ( 29483324 )
2018
8
Eyelid Myokymia with Concomitant Cerebral Tumour: A Case Report. ( 29796047 )
2018
9
Superior oblique myokymia. ( 30061333 )
2018
10
Recurrent Superior Oblique Myokymia Treated by Distal Tendon Extirpation. ( 30289792 )
2018
11
Teaching Video NeuroImages: Facial myokymia and myorhythmia in anti-IgLON5 disease: The bitten lip. ( 30348862 )
2018
12
Continuous hemifacial myokymia as the revealing symptom of demyelinating disease of the CNS. ( 28104248 )
2017
13
Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype. ( 28626794 )
2017
14
Radiation-induced tongue myokymia with hypoglossal nerve damage, mimicker of motor neuron disease. ( 28588874 )
2017
15
Facial twitches in ADCY5-associated disease - Myokymia or myoclonus? An electromyography study. ( 28442302 )
2017
16
Three dimensional video-oculography and thin-slice magnetic resonance imaging in a patient with superior oblique myokymia. ( 28566142 )
2017
17
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions. ( 28666963 )
2017
18
Hypoglossal myokymia presenting as paroxysmal dysarthria following head and neck radiotherapy. ( 28705952 )
2017
19
Unilateral tongue myokymia - A rare topodiagnostic sign of different clinical conditions. ( 28765061 )
2017
20
Clinical and Oculographic Analysis of Inferior Oblique Myokymia. ( 28991103 )
2017
21
Multiple Sclerosis Presenting with Facial Twitching (Myokymia and Hemifacial Spasms). ( 29075542 )
2017
22
Cardinal features of superior oblique myokymia: An infrared oculography study. ( 29260093 )
2017
23
Superior Oblique Myokymia: Some Novel Observations. ( 29279659 )
2017
24
Snake bite-induced myoclonus, myokymia and myospasm with leukoencephalopathy: a video presentation. ( 27095811 )
2016
25
Therapy of Vestibular Paroxysmia, Superior Oblique Myokymia, and Ocular Neuromyotonia. ( 27306762 )
2016
26
Immune-mediated spastic paraparesis accompanied with high titres of voltage-gated potassium channel complex antibodies and myokymia/fasciculation. ( 27084231 )
2016
27
Use of botulinum toxin type A for the treatment of radiation therapy-induced myokymia and neuromyotonia in a dog. ( 26885596 )
2016
28
Topiramate-Induced Persistent Eyelid Myokymia. ( 27293943 )
2016
29
Tongue myokymia presenting twelve years after radiation therapy. ( 30214958 )
2016
30
Facial myokymia and autonomic synkinesis responsive to carbamazepine. ( 25444448 )
2015
31
Postradiation myokymia of the spinal accessory nerve. ( 25500974 )
2015
32
Acetazolamide-induced myokymia. ( 25715652 )
2015
33
Eyelid myokymia in patients with migraine taking topiramate. ( 25828425 )
2015
34
Adult-onset Alexander disease: could facial myokymia be a symptom? ( 25410460 )
2014
35
Oculopalatal tremor, facial myokymia and truncal ataxia in a patient with neurosarcoidosis. ( 25103854 )
2014
36
Topical timolol in the treatment of monocular oscillopsia secondary to superior oblique myokymia: a review. ( 24766862 )
2014
37
Alternating superior and inferior oblique myokymia. ( 25010174 )
2014
38
Microvascular decompression for superior oblique myokymia: case report. ( 24392739 )
2014
39
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. ( 24700542 )
2014
40
A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both. ( 24708069 )
2014
41
Teaching Video NeuroImages: myokymia and nerve hyperexcitability as components of Morvan syndrome due to malignant thymoma. ( 23359380 )
2013
42
Unilateral eyelid myokymia as a form of presentation of multiple sclerosis. ( 22078650 )
2013
43
Ten Years' Follow-Up of a Family With Myokymia and Muscle Cramps Without Ataxia. ( 22965560 )
2013
44
Eyelid myokymia in an older subject after repetitive sessions of anodal transcranial direct current stimulation. ( 23137701 )
2013
45
Images in clinical medicine. Perioral myokymia. ( 23343078 )
2013
46
Inferior oblique myokymia: a unique ocular motility disorder. ( 23494050 )
2013
47
Mystery case: superior oblique myokymia due to vascular compression of the trochlear nerve. ( 23530155 )
2013
48
Myokymia and neuromyotonia in veterinary medicine: a comparison with peripheral nerve hyperexcitability syndrome in humans. ( 23583699 )
2013
49
Successful treatment of hemifacial myokymia and dystonia associated to linear scleroderma "en coup de sabre" with repeated botox injections. ( 22924048 )
2012
50
Hereditary ataxia, myokymia and neuromyotonia in Jack Russell terriers. ( 22872628 )
2012

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 487)
# 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.2127del (p.Val710Serfs) deletion Pathogenic rs118192244 GRCh37 Chromosome 20, 62038489: 62038489
14 KCNQ2 NM_172107.3(KCNQ2): c.2127del (p.Val710Serfs) deletion Pathogenic rs118192244 GRCh38 Chromosome 20, 63407136: 63407136
15 KCNQ2 NM_172107.3(KCNQ2): c.620G> A (p.Arg207Gln) single nucleotide variant Pathogenic rs118192200 GRCh37 Chromosome 20, 62076082: 62076082
16 KCNQ2 NM_172107.3(KCNQ2): c.620G> A (p.Arg207Gln) single nucleotide variant Pathogenic rs118192200 GRCh38 Chromosome 20, 63444729: 63444729
17 KCNQ2 NM_172107.3(KCNQ2): c.638G> A (p.Arg213Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514581 GRCh37 Chromosome 20, 62076064: 62076064
18 KCNQ2 NM_172107.3(KCNQ2): c.638G> A (p.Arg213Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514581 GRCh38 Chromosome 20, 63444711: 63444711
19 KCNQ2 NM_172107.3(KCNQ2): c.869G> A (p.Gly290Asp) single nucleotide variant Pathogenic rs397514582 GRCh37 Chromosome 20, 62071009: 62071009
20 KCNQ2 NM_172107.3(KCNQ2): c.869G> A (p.Gly290Asp) single nucleotide variant Pathogenic rs397514582 GRCh38 Chromosome 20, 63439656: 63439656
21 KCNQ2 NC_000020.11: g.63384457_63433124del48668 deletion Pathogenic GRCh37 Chromosome 20, 62015806: 62064474
22 KCNQ2 NC_000020.11: g.63384457_63433124del48668 deletion Pathogenic GRCh38 Chromosome 20, 63384457: 63433124
23 KCNA1 NM_000217.3(KCNA1): c.*9G> A single nucleotide variant Benign rs4766310 GRCh37 Chromosome 12, 5022041: 5022041
24 KCNA1 NM_000217.3(KCNA1): c.*9G> A single nucleotide variant Benign rs4766310 GRCh38 Chromosome 12, 4912875: 4912875
25 KCNA1 NM_000217.3(KCNA1): c.1296C> G (p.Ser432=) single nucleotide variant Benign rs76066681 GRCh37 Chromosome 12, 5021840: 5021840
26 KCNA1 NM_000217.3(KCNA1): c.1296C> G (p.Ser432=) single nucleotide variant Benign rs76066681 GRCh38 Chromosome 12, 4912674: 4912674
27 KCNQ2 NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic/Likely pathogenic rs794727740 GRCh37 Chromosome 20, 62073782: 62073782
28 KCNQ2 NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic/Likely pathogenic rs794727740 GRCh38 Chromosome 20, 63442429: 63442429
29 KCNQ2 NM_172107.3(KCNQ2): c.601C> T (p.Arg201Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs796052623 GRCh37 Chromosome 20, 62076101: 62076101
30 KCNQ2 NM_172107.3(KCNQ2): c.601C> T (p.Arg201Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs796052623 GRCh38 Chromosome 20, 63444748: 63444748
31 KCNQ2 NM_172107.3(KCNQ2): c.593G> A (p.Arg198Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs796052621 GRCh37 Chromosome 20, 62076109: 62076109
32 KCNQ2 NM_172107.3(KCNQ2): c.593G> A (p.Arg198Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs796052621 GRCh38 Chromosome 20, 63444756: 63444756
33 KCNQ2 NM_172107.3(KCNQ2): c.333_334del (p.Ser113Hisfs) deletion Pathogenic rs796052663 GRCh37 Chromosome 20, 62078153: 62078154
34 KCNQ2 NM_172107.3(KCNQ2): c.333_334del (p.Ser113Hisfs) deletion Pathogenic rs796052663 GRCh38 Chromosome 20, 63446800: 63446801
35 KCNQ2 NM_172107.3(KCNQ2): c.297-2A> G single nucleotide variant Pathogenic rs796052615 GRCh37 Chromosome 20, 62078192: 62078192
36 KCNQ2 NM_172107.3(KCNQ2): c.297-2A> G single nucleotide variant Pathogenic rs796052615 GRCh38 Chromosome 20, 63446839: 63446839
37 KCNQ2 NM_172107.3(KCNQ2): c.917C> T (p.Ala306Val) single nucleotide variant Pathogenic/Likely pathogenic rs864321707 GRCh38 Chromosome 20, 63439608: 63439608
38 KCNQ2 NM_172107.3(KCNQ2): c.917C> T (p.Ala306Val) single nucleotide variant Pathogenic/Likely pathogenic rs864321707 GRCh37 Chromosome 20, 62070961: 62070961
39 KCNQ2 NM_172107.3(KCNQ2): c.775G> T (p.Asp259Tyr) single nucleotide variant Pathogenic rs777257591 GRCh38 Chromosome 20, 63442447: 63442447
40 KCNQ2 NM_172107.3(KCNQ2): c.775G> T (p.Asp259Tyr) single nucleotide variant Pathogenic rs777257591 GRCh37 Chromosome 20, 62073800: 62073800
41 KCNQ2 NM_172107.3(KCNQ2): c.319C> T (p.Leu107Phe) single nucleotide variant Pathogenic rs864321712 GRCh37 Chromosome 20, 62078168: 62078168
42 KCNQ2 NM_172107.3(KCNQ2): c.319C> T (p.Leu107Phe) single nucleotide variant Pathogenic rs864321712 GRCh38 Chromosome 20, 63446815: 63446815
43 KCNQ2 NM_172109.2(KCNQ2): c.1120T> C (p.Tyr374His) single nucleotide variant Pathogenic rs886042605 GRCh37 Chromosome 20, 62065160: 62065160
44 KCNQ2 NM_172109.2(KCNQ2): c.1120T> C (p.Tyr374His) single nucleotide variant Pathogenic rs886042605 GRCh38 Chromosome 20, 63433807: 63433807
45 KCNA1 NM_000217.3(KCNA1): c.*5209C> T single nucleotide variant Likely benign rs189939908 GRCh37 Chromosome 12, 5027241: 5027241
46 KCNA1 NM_000217.3(KCNA1): c.*5209C> T single nucleotide variant Likely benign rs189939908 GRCh38 Chromosome 12, 4918075: 4918075
47 KCNA1 NM_000217.3(KCNA1): c.*5274A> G single nucleotide variant Uncertain significance rs886049541 GRCh37 Chromosome 12, 5027306: 5027306
48 KCNA1 NM_000217.3(KCNA1): c.*5274A> G single nucleotide variant Uncertain significance rs886049541 GRCh38 Chromosome 12, 4918140: 4918140
49 KCNQ2 NM_172107.2: c.1-?c.993+?del deletion Pathogenic
50 KCNQ2 NM_172107.3(KCNQ2): c.1764-?_*(455_?)del deletion Pathogenic GRCh37 Chromosome 20, 62037542: 62039889

Expression for Seizures, Benign Familial Neonatal, 1

Search GEO for disease gene expression data for Seizures, Benign Familial Neonatal, 1.

Pathways for Seizures, Benign Familial Neonatal, 1

GO Terms for Seizures, Benign Familial Neonatal, 1

Sources for Seizures, Benign Familial Neonatal, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....