MCID: MYC068
MIFTS: 36

Myoclonic Epilepsy of Infancy malady

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

Aliases & Classifications for Myoclonic Epilepsy of Infancy

Aliases & Descriptions for Myoclonic Epilepsy of Infancy:

Name: Myoclonic Epilepsy of Infancy 56
Benign Myoclonic Epilepsy of Infancy 56
Benign Myoclonus Epilepsy of Infancy 56

Characteristics:

Orphanet epidemiological data:

56
myoclonic epilepsy of infancy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA86909
ICD10 via Orphanet 34 G40.3
UMLS via Orphanet 70 C0751120 C0917800

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 gabrg2-related dravet syndrome, and has symptoms including intellectual disability, mild, eeg with irregular generalized spike and wave complexes and generalized myoclonic seizures. 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 testes.

Related Diseases for Myoclonic Epilepsy of Infancy

Diseases in the Myoclonic Epilepsy of Infancy family:

Epilepsy, Myoclonic, Familial Adult, 5 Epilepsy, Myoclonic, Familial Adult, 2
Epilepsy, Progressive Myoclonic 5 Epilepsy, Juvenile Myoclonic 5
Epilepsy, Progressive Myoclonic 2b Myoclonic Epilepsy, Juvenile 1
Epilepsy, Progressive Myoclonic 7 Epilepsy, Progressive Myoclonic 1b
Myoclonic Epilepsy, Infantile, Familial Epilepsy, Progressive Myoclonic 6
Epilepsy, Progressive Myoclonic, 9 Epilepsy, Progressive Myoclonic, 8
Epilepsy, Progressive Myoclonic 1a Epilepsy Progressive Myoclonic Type 3
Cacnb4-Related Juvenile Myoclonic Epilepsy Clcn2-Related Juvenile Myoclonic Epilepsy
Efhc1-Related Juvenile Myoclonic Epilepsy Ejm2-Related Juvenile Myoclonic Epilepsy
Ejm3-Related Juvenile Myoclonic Epilepsy Ejm4-Related Juvenile Myoclonic Epilepsy
Gabra1-Related Juvenile Myoclonic Epilepsy Gabrd-Related Juvenile Myoclonic Epilepsy
Scn1a-Related Severe Myoclonic Epilepsy in Infancy Benign Adult Familial Myoclonic Epilepsy
Epilepsy, Progressive Myoclonic 10

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

(show all 27)
id Related Disease Score Top Affiliating Genes
1 dravet syndrome 12.0
2 gabrg2-related dravet syndrome 11.1
3 generalized epilepsy with febrile seizures plus 10.9
4 epilepsy, generalized, with febrile seizures plus, type 2 10.9
5 epilepsy 10.7
6 epileptic encephalopathy, early infantile, 11 10.0 GABRG2 SCN1A
7 deafness, autosomal recessive 65 10.0 GABRG2 SCN1A
8 early onset absence epilepsy 10.0 GABRG2 SCN1A
9 aceruloplasminemia 10.0 GABRG2 SCN1A
10 hydromyelia 10.0 GABRG2 SCN1A
11 gingivitis 10.0 GABRG2 SCN1A
12 autosomal recessive nonsyndromic deafness 10.0 GABRG2 SCN1A
13 bone cancer 10.0 GABRG2 SCN1A
14 spondylosis 9.9 GABRG2 SCN1A
15 mononeuritis multiplex 9.9 GABRG2 SCN1A
16 epilepsy, generalized, with febrile seizures plus, type 5 9.9 GABRG2 SCN1A
17 epileptic encephalopathy, early infantile, 15 9.9 SCN1A SCN8A
18 autoimmune lymphoproliferative syndrome 9.8
19 lymphoproliferative syndrome 9.8
20 hyperinsulinism 9.8
21 neuronitis 9.8
22 febrile seizures 9.8
23 jeavons syndrome 9.8
24 floppy infant syndrome 9.7 SCN1A SCN8A
25 gamma-amino butyric acid metabolism disorder 9.7 GABRG2 SCN1A SCN8A
26 brachydactyly, type e 9.7 GABRG2 SCN1A SCN8A
27 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 9.5 EIM GABRG2 SCN1A SCN8A

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:

56 32 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, mild 56 32 Very frequent (99-80%) HP:0001256
2 eeg with irregular generalized spike and wave complexes 56 32 Very frequent (99-80%) HP:0001326
3 generalized myoclonic seizures 56 32 Very frequent (99-80%) HP:0002123
4 attention deficit hyperactivity disorder 56 32 Very frequent (99-80%) HP:0007018
5 aggressive behavior 56 32 Frequent (79-30%) HP:0000718
6 irritability 56 32 Frequent (79-30%) HP:0000737
7 global developmental delay 56 32 Frequent (79-30%) HP:0001263
8 mental deterioration 56 32 Frequent (79-30%) HP:0001268
9 myoclonus 56 32 Frequent (79-30%) HP:0001336
10 poor motor coordination 56 32 Frequent (79-30%) HP:0002275
11 developmental regression 56 32 Frequent (79-30%) HP:0002376
12 poor hand-eye coordination 56 32 Frequent (79-30%) HP:0007057
13 leber optic atrophy 56 32 Occasional (29-5%) HP:0001112
14 dysarthria 56 32 Occasional (29-5%) HP:0001260
15 absence seizures 56 32 Occasional (29-5%) HP:0002121
16 febrile seizures 56 32 Occasional (29-5%) HP:0002373
17 language impairment 56 32 Occasional (29-5%) HP:0002463
18 photosensitive tonic-clonic seizures 56 32 Occasional (29-5%) HP:0007207
19 delayed fine motor development 56 32 Occasional (29-5%) HP:0010862
20 hemiplegia 56 32 Very rare (<4-1%) HP:0002301
21 generalized tonic-clonic seizures 56 Very frequent (99-80%)

Drugs & Therapeutics for Myoclonic Epilepsy of Infancy

Interventional clinical trials:


id Name Status NCT ID Phase
1 Genetics of Severe Early Onset Epilepsies Recruiting NCT01858285
2 Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome Recruiting NCT02896608

Search 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:

39
Eye, Testes

Publications for Myoclonic Epilepsy of Infancy

Articles related to Myoclonic Epilepsy of Infancy:

(show all 46)
id Title Authors Year
1
Reflex Myoclonic Epilepsy of Infancy: Seizures Induced by TactileA Stimulation. ( 27039230 )
2016
2
Unaltered Network Activity and Interneuronal Firing During Spontaneous Cortical Dynamics In Vivo in a Mouse Model of Severe Myoclonic Epilepsy of Infancy. ( 26819275 )
2016
3
Do pure absence seizures occur in myoclonic epilepsy of infancy? A case series. ( 25564312 )
2015
4
Activity of drugs and components of natural origin in the severe myoclonic epilepsy of infancy (Dravet syndrome). ( 25924876 )
2015
5
Severe myoclonic epilepsy of infancy: Seizure reduction during adjunctive eslicarbazepine in two cases. ( 26236634 )
2015
6
Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant. ( 25669891 )
2014
7
Nocturnal variant of benign myoclonic epilepsy of infancy: a case series. ( 24691296 )
2014
8
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. ( 23653348 )
2013
9
Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression. ( 23086956 )
2012
10
Stiripentol : in severe myoclonic epilepsy of infancy (dravet syndrome). ( 23018548 )
2012
11
Hyperinsulinism and hyperammonaemia syndrome and severe myoclonic epilepsy of infancy. ( 21163222 )
2011
12
Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients. ( 22028529 )
2011
13
Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients. ( 22147323 )
2011
14
"Benign" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency. ( 21865127 )
2011
15
Novel human pathological mutations. Gene symbol: SCN1A. Disease: Myoclonic epilepsy of infancy. ( 20135149 )
2010
16
Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI). ( 20110217 )
2010
17
Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy). ( 20729507 )
2010
18
Benign myoclonic epilepsy of infancy evolving to Jeavons syndrome. ( 20691946 )
2010
19
Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy. ( 19694011 )
2009
20
[Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy]. ( 19350499 )
2009
21
Digenic mutations in severe myoclonic epilepsy of infancy. ( 19359143 )
2009
22
Is benign myoclonic epilepsy of infancy truly idiopathic and generalized? ( 19470419 )
2009
23
An inherited nonsense R1645X mutation in neuronal sodium channel alpha1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy. ( 19809937 )
2009
24
Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy. ( 18554359 )
2008
25
Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy. ( 18680191 )
2008
26
[Clinical features and SCN1A gene mutation analysis of severe myoclonic epilepsy of infancy]. ( 19099883 )
2008
27
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A. ( 18294202 )
2008
28
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. ( 17881658 )
2007
29
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. ( 17054697 )
2006
30
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. ( 17000989 )
2006
31
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. ( 17054685 )
2006
32
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. ( 17054684 )
2006
33
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. ( 16541393 )
2006
34
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. ( 16430863 )
2006
35
Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. ( 17190949 )
2006
36
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. ( 17030758 )
2006
37
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy. ( 16505326 )
2006
38
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. ( 16458823 )
2006
39
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. ( 15263074 )
2004
40
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. ( 14504318 )
2003
41
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. ( 12821740 )
2003
42
Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. ( 12773292 )
2003
43
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. ( 12754708 )
2003
44
No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy. ( 12694927 )
2003
45
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. ( 11359211 )
2001
46
Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13. ( 10741954 )
2000

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:

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

GO Terms for Myoclonic Epilepsy of Infancy

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

id Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.26 SCN1A SCN8A
2 node of Ranvier GO:0033268 9.16 SCN1A SCN8A
3 voltage-gated sodium channel complex GO:0001518 8.96 SCN1A SCN8A
4 axon initial segment GO:0043194 8.62 SCN1A SCN8A

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

id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.54 GABRG2 SCN1A SCN8A
2 regulation of ion transmembrane transport GO:0034765 9.43 SCN1A SCN8A
3 sodium ion transport GO:0006814 9.4 SCN1A SCN8A
4 sodium ion transmembrane transport GO:0035725 9.32 SCN1A SCN8A
5 regulation of postsynaptic membrane potential GO:0060078 9.26 SCN1A SCN8A
6 neuronal action potential GO:0019228 9.16 SCN1A SCN8A
7 membrane depolarization during action potential GO:0086010 8.96 SCN1A SCN8A
8 ion transmembrane transport GO:0034220 8.8 GABRG2 SCN1A SCN8A

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

id Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.26 SCN1A SCN8A
2 ion channel activity GO:0005216 9.16 SCN1A SCN8A
3 sodium channel activity GO:0005272 8.96 SCN1A SCN8A
4 voltage-gated sodium channel activity GO:0005248 8.62 SCN1A SCN8A

Sources for Myoclonic Epilepsy of Infancy

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