MCID: MYC068
MIFTS: 34

Myoclonic Epilepsy of Infancy

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myoclonic Epilepsy of Infancy

MalaCards integrated aliases for Myoclonic Epilepsy of Infancy:

Name: Myoclonic Epilepsy of Infancy 58
Benign Myoclonic Epilepsy of Infancy 58
Benign Myoclonus Epilepsy of Infancy 58

Characteristics:

Orphanet epidemiological data:

58
myoclonic epilepsy of infancy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Myoclonic Epilepsy of Infancy

MalaCards based summary : Myoclonic Epilepsy of Infancy, also known as benign myoclonic epilepsy of infancy, is related to dravet syndrome and genetic epilepsy with febrile seizures plus. An important gene associated with Myoclonic Epilepsy of Infancy is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are L1CAM interactions and Phase 0 - rapid depolarisation. Affiliated tissues include eye, and related phenotypes are intellectual disability, mild and attention deficit hyperactivity disorder

Related Diseases for Myoclonic Epilepsy of Infancy

Diseases in the Epilepsy, Myoclonic Juvenile family:

Epilepsy, Familial Adult Myoclonic, 1 Myoclonic Epilepsy, Familial Infantile
Epilepsy, Familial Adult Myoclonic, 2 Myoclonic Epilepsy, Juvenile 3
Myoclonic Epilepsy, Juvenile 4 Epilepsy, Progressive Myoclonic, 1b
Epilepsy, Familial Adult Myoclonic, 3 Epilepsy, Progressive Myoclonic, 6
Epilepsy, Juvenile Myoclonic 9 Epilepsy, Familial Adult Myoclonic, 4
Epilepsy, Familial Adult Myoclonic, 5 Epilepsy, Progressive Myoclonic 7
Epilepsy, Progressive Myoclonic, 8 Epilepsy, Progressive Myoclonic, 9
Epilepsy, Progressive Myoclonic, 10 Epilepsy, Juvenile Myoclonic 10
Epilepsy, Familial Adult Myoclonic, 6 Epilepsy, Familial Adult Myoclonic, 7
Epilepsy, Progressive Myoclonic, 11 Epilepsy, Progressive Myoclonic, 12
Familial Adult Myoclonic Epilepsy Epilepsy Progressive Myoclonic Type 3
Myoclonic Epilepsy of Infancy

Diseases related to Myoclonic Epilepsy of Infancy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 103)
# Related Disease Score Top Affiliating Genes
1 dravet syndrome 32.1 SCN8A SCN1A LOC102724058 GABRG2
2 genetic epilepsy with febrile seizures plus 32.0 SCN1A LOC102724058
3 generalized epilepsy with febrile seizures plus 31.1 SCN8A SCN1A LOC102724058 GABRG2
4 early myoclonic encephalopathy 31.0 SCN8A SCN1A GABRG2
5 scn1a seizure disorders 30.9 SCN1A LOC102724058
6 developmental and epileptic encephalopathy 30.6 SCN8A SCN1A LOC102724058
7 epilepsy 30.4 SCN8A SCN1A LOC102724058 GABRG2
8 ohtahara syndrome 30.4 SCN8A SCN1A LOC102724058
9 febrile seizures 30.2 SCN8A SCN1A LOC102724058 GABRG2
10 epilepsy, idiopathic generalized 30.2 SCN8A SCN1A GABRG2
11 developmental and epileptic encephalopathy 13 30.2 SCN8A SCN1A
12 early infantile epileptic encephalopathy 30.1 SCN8A SCN1A LOC102724058 GABRG2
13 seizure disorder 30.0 SCN8A SCN1A LOC102724058 GABRG2
14 generalized epilepsy with febrile seizures plus, type 2 29.9 SCN1A LOC102724058 GABRG2
15 lennox-gastaut syndrome 29.9 SCN8A SCN1A GABRG2
16 west syndrome 29.5 SCN8A SCN1A LOC102724058 GABRG2
17 focal epilepsy 29.3 SCN8A SCN1A LOC102724058 GABRG2
18 alacrima, achalasia, and mental retardation syndrome 29.1 SCN1A LOC102724058 GABRG2
19 status epilepticus 10.4
20 myoclonus 10.3
21 ataxia and polyneuropathy, adult-onset 10.2
22 epilepsy with myoclonic-atonic seizures 10.2
23 encephalopathy 10.1 SCN8A SCN1A
24 megalencephaly, autosomal dominant 10.1 SCN1A LOC102724058
25 megalencephaly 10.1 SCN1A LOC102724058
26 plagiocephaly 10.1 SCN1A LOC102724058
27 partial motor epilepsy 10.1 SCN8A SCN1A
28 generalized epilepsy with febrile seizures plus, type 1 10.1 SCN1A LOC102724058
29 progressive familial heart block, type ia 10.1 SCN8A SCN1A
30 developmental and epileptic encephalopathy 14 10.1 SCN8A SCN1A
31 low-grade astrocytoma 10.1 SCN8A SCN1A
32 neuronal migration disorders 10.1 SCN1A LOC102724058
33 trigeminal nerve disease 10.1 SCN8A SCN1A
34 hemimegalencephaly 10.0 SCN1A LOC102724058
35 infancy electroclinical syndrome 10.0 SCN8A SCN1A
36 trigeminal neuralgia 10.0 SCN8A SCN1A
37 autoimmune lymphoproliferative syndrome 10.0
38 myoclonic epilepsy, familial infantile 10.0
39 dianzani autoimmune lymphoproliferative disease 10.0
40 glut1 deficiency syndrome 1 10.0
41 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
42 developmental and epileptic encephalopathy 16 10.0
43 lymphoproliferative syndrome 10.0
44 pertussis 10.0
45 dysgammaglobulinemia 10.0
46 neutropenia 10.0
47 hyperinsulinism 10.0
48 liver disease 10.0
49 movement disease 10.0
50 mitochondrial metabolism disease 10.0

Graphical network of the top 20 diseases related to Myoclonic Epilepsy of Infancy:



Diseases related to Myoclonic Epilepsy of Infancy

Symptoms & Phenotypes for Myoclonic Epilepsy of Infancy

Human phenotypes related to Myoclonic Epilepsy of Infancy:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
2 attention deficit hyperactivity disorder 58 31 hallmark (90%) Very frequent (99-80%) HP:0007018
3 eeg with irregular generalized spike and wave complexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001326
4 generalized myoclonic seizure 31 hallmark (90%) HP:0002123
5 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
6 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
7 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
8 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
9 mental deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0001268
10 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
11 poor motor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0002275
12 poor hand-eye coordination 58 31 frequent (33%) Frequent (79-30%) HP:0007057
13 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
14 language impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002463
15 delayed fine motor development 58 31 occasional (7.5%) Occasional (29-5%) HP:0010862
16 leber optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001112
17 febrile seizure (within the age range of 3 months to 6 years) 31 occasional (7.5%) HP:0002373
18 photosensitive tonic-clonic seizure 31 occasional (7.5%) HP:0007207
19 generalized non-motor (absence) seizure 31 occasional (7.5%) HP:0002121
20 hemiplegia 58 31 very rare (1%) Very rare (<4-1%) HP:0002301
21 generalized myoclonic seizures 58 Very frequent (99-80%)
22 generalized tonic-clonic seizures 58 Very frequent (99-80%)
23 absence seizure 58 Occasional (29-5%)
24 febrile seizures 58 Occasional (29-5%)
25 photosensitive tonic-clonic seizures 58 Occasional (29-5%)

Drugs & Therapeutics for Myoclonic Epilepsy of Infancy

Search Clinical Trials , NIH Clinical Center for Myoclonic Epilepsy of Infancy

Genetic Tests for Myoclonic Epilepsy of Infancy

Anatomical Context for Myoclonic Epilepsy of Infancy

MalaCards organs/tissues related to Myoclonic Epilepsy of Infancy:

40
Eye

Publications for Myoclonic Epilepsy of Infancy

Articles related to Myoclonic Epilepsy of Infancy:

(show top 50) (show all 185)
# Title Authors PMID Year
1
Changing Landscape of Dravet Syndrome Management: An Overview. 61
32079034 2020
2
Accuracy of Flash Glucose Monitoring in a Patient with Dravet Syndrome on a Ketogenic Diet. 61
31529424 2020
3
Benign spasms of infancy: a mimicker of infantile epileptic disorders. 61
31843733 2019
4
Stiripentol: A Review in Dravet Syndrome. 61
31617141 2019
5
Dravet Syndrome: An Overview. 61
31497436 2019
6
A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability. 61
30127718 2018
7
Follow-up study of idiopathic generalized epilepsy with associated absence seizure and myoclonic epilepsy of infancy. 61
28829985 2017
8
Vagus Nerve Stimulation in Intractable Epilepsy Associated With SCN1A Gene Abnormalities. 61
28079431 2017
9
Photosensitivity in generalized epilepsies. 61
28215998 2017
10
Denatured protein stabilized drug nanoparticles: tunable drug state and penetration across the intestinal barrier. 61
32263886 2017
11
Expanding spectrum of SCN1A-related phenotype with novel mutations. 61
29745119 2017
12
Ketogenic Diets in the Treatment of Epilepsy. 61
28799513 2017
13
Large-scale structural alteration of brain in epileptic children with SCN1A mutation. 61
28664031 2017
14
Palliative epilepsy surgery in Dravet syndrome-case series and review of the literature. 61
27465677 2016
15
Reflex Myoclonic Epilepsy of Infancy: Seizures Induced by Tactile Stimulation. 61
27039230 2016
16
Unaltered Network Activity and Interneuronal Firing During Spontaneous Cortical Dynamics In Vivo in a Mouse Model of Severe Myoclonic Epilepsy of Infancy. 61
26819275 2016
17
Glucose Transporter 1 Deficiency: A Treatable Cause of Opsoclonus and Epileptic Myoclonus. 61
26385057 2015
18
Seizures, encephalopathy, and vaccines: experience in the National Vaccine Injury Compensation Program. 61
25477158 2015
19
Severe myoclonic epilepsy of infancy: Seizure reduction during adjunctive eslicarbazepine in two cases. 61
26236634 2015
20
Activity of drugs and components of natural origin in the severe myoclonic epilepsy of infancy (Dravet syndrome). 61
25924876 2015
21
Do pure absence seizures occur in myoclonic epilepsy of infancy? A case series. 61
25564312 2015
22
Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant. 61
25669891 2014
23
Etiologies for seizures around the time of vaccination. 61
25225143 2014
24
Untangling the dravet syndrome seizure network: the changing face of a rare genetic epilepsy. 61
24872787 2014
25
Nocturnal variant of benign myoclonic epilepsy of infancy: a case series. 61
24691296 2014
26
High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile. 61
24372310 2014
27
Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation. 61
24277604 2013
28
Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons. 61
23773995 2013
29
Variability of EEG-fMRI findings in patients with SCN1A-positive Dravet syndrome. 61
23398550 2013
30
SCN1A Genetic Test for Dravet Syndrome (Severe Myoclonic Epilepsy of Infancy and its Clinical Subtypes) for use in the Diagnosis, Prognosis, Treatment and Management of Dravet Syndrome. 61
23653348 2013
31
Sudden death in epilepsy: of mice and men. 61
23524959 2013
32
Sodium Channel Gene Mutations in Children with GEFS+ and Dravet Syndrome: A Cross Sectional Study. 61
24665294 2013
33
Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression. 61
23086956 2012
34
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 61
23195492 2012
35
Stiripentol : in severe myoclonic epilepsy of infancy (dravet syndrome). 61
23018548 2012
36
Compromised function in the Na(v)1.2 Dravet syndrome mutation R1312T. 61
22677033 2012
37
Dissecting the genetic basis of myoclonic-astatic epilepsy. 61
22780699 2012
38
Different degrees of loss of function between GEFS+ and SMEI Nav 1.1 missense mutants at the same residue induced by rescuable folding defects. 61
22525008 2012
39
Early clinical features in Dravet syndrome patients with and without SCN1A mutations. 61
22071555 2012
40
Na(V)1.1 channels are critical for intercellular communication in the suprachiasmatic nucleus and for normal circadian rhythms. 61
22223655 2012
41
Animal models. 61
22938964 2012
42
Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients. 61
22147323 2011
43
"Benign" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency. 61
21865127 2011
44
Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients. 61
22028529 2011
45
Leber's hereditary optic neuropathy mutations associated with infantile-onset myoclonic epilepsy. 61
21527392 2011
46
Hyperinsulinism and hyperammonaemia syndrome and severe myoclonic epilepsy of infancy. 61
21163222 2011
47
Therapy for hyperthermia-induced seizures in Scn1a mutant rats. 61
21480876 2011
48
A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome. 61
21531204 2011
49
Borderline Dravet syndrome: a useful diagnostic category? 61
21463273 2011
50
The impact of parent advocacy groups, the Internet, and social networking on rare diseases: the IDEA League and IDEA League United Kingdom example. 61
21463291 2011

Variations for Myoclonic Epilepsy of Infancy

Expression for Myoclonic Epilepsy of Infancy

Search GEO for disease gene expression data for Myoclonic Epilepsy of Infancy.

Pathways for Myoclonic Epilepsy of Infancy

Pathways related to Myoclonic Epilepsy of Infancy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.25 SCN8A SCN1A
2
Show member pathways
10.83 SCN8A SCN1A
3 10.1 SCN8A SCN1A

GO Terms for Myoclonic Epilepsy of Infancy

Cellular components related to Myoclonic Epilepsy of Infancy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.43 SCN8A SCN1A GABRG2
2 Z disc GO:0030018 9.32 SCN8A SCN1A
3 axon initial segment GO:0043194 9.16 SCN8A SCN1A
4 voltage-gated sodium channel complex GO:0001518 8.96 SCN8A SCN1A
5 node of Ranvier GO:0033268 8.62 SCN8A SCN1A

Biological processes related to Myoclonic Epilepsy of Infancy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.54 SCN8A SCN1A GABRG2
2 regulation of ion transmembrane transport GO:0034765 9.46 SCN8A SCN1A
3 sodium ion transport GO:0006814 9.43 SCN8A SCN1A
4 regulation of membrane potential GO:0042391 9.4 SCN1A GABRG2
5 ion transmembrane transport GO:0034220 9.33 SCN8A SCN1A GABRG2
6 sodium ion transmembrane transport GO:0035725 9.32 SCN8A SCN1A
7 cation transmembrane transport GO:0098655 9.26 SCN8A SCN1A
8 neuronal action potential GO:0019228 8.96 SCN8A SCN1A
9 membrane depolarization during action potential GO:0086010 8.62 SCN8A SCN1A

Molecular functions related to Myoclonic Epilepsy of Infancy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.32 SCN8A SCN1A
2 cation channel activity GO:0005261 9.26 SCN8A SCN1A
3 sodium channel activity GO:0005272 9.16 SCN8A SCN1A
4 voltage-gated sodium channel activity GO:0005248 8.96 SCN8A SCN1A
5 ion channel activity GO:0005216 8.8 SCN8A SCN1A GABRG2

Sources for Myoclonic Epilepsy of Infancy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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