MCID: MYC068
MIFTS: 38

Myoclonic Epilepsy of Infancy

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

Aliases & Classifications for Myoclonic Epilepsy of Infancy

MalaCards integrated aliases for Myoclonic Epilepsy of Infancy:

Name: Myoclonic Epilepsy of Infancy 55
Benign Myoclonic Epilepsy of Infancy 55
Benign Myoclonus Epilepsy of Infancy 55

Characteristics:

Orphanet epidemiological data:

55
myoclonic epilepsy of infancy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 55  
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 epileptic encephalopathy, early infantile, 6 and epilepsy, 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 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 Progressive Myoclonic Type 3
Progressive Myoclonic Epilepsy Type 5 Myoclonic Epilepsy of Infancy
Benign Adult Familial Myoclonic Epilepsy

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

(show all 21)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 6 32.2 GABRG2 SCN1A SCN8A
2 epilepsy 30.4 GABRG2 SCN1A
3 febrile seizures 29.6 GABRG2 SCN1A
4 epilepsy, idiopathic generalized 29.3 GABRG2 SCN1A
5 generalized epilepsy with febrile seizures plus, type 2 11.0
6 myoclonic astatic epilepsy 11.0
7 seizures, benign familial infantile, 3 9.9 GABRG2 SCN1A
8 infancy electroclinical syndrome 9.9 GABRG2 SCN1A
9 adolescence-adult electroclinical syndrome 9.9 GABRG2 SCN1A
10 autoimmune lymphoproliferative syndrome 9.9
11 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
12 lymphoproliferative syndrome 9.9
13 hyperinsulinism 9.9
14 neuronitis 9.9
15 jeavons syndrome 9.9
16 epilepsy, nocturnal frontal lobe, 1 9.9 GABRG2 SCN1A
17 early myoclonic encephalopathy 9.8 GABRG2 SCN1A
18 epilepsy, idiopathic generalized 10 9.8 GABRG2 SCN1A
19 focal epilepsy 9.8 GABRG2 SCN1A
20 west syndrome 9.6 SCN1A SCN8A
21 generalized epilepsy with febrile seizures plus 9.3 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:

55 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, mild 55 31 hallmark (90%) Very frequent (99-80%) HP:0001256
2 eeg with irregular generalized spike and wave complexes 55 31 hallmark (90%) Very frequent (99-80%) HP:0001326
3 generalized myoclonic seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0002123
4 attention deficit hyperactivity disorder 55 31 hallmark (90%) Very frequent (99-80%) HP:0007018
5 aggressive behavior 55 31 frequent (33%) Frequent (79-30%) HP:0000718
6 irritability 55 31 frequent (33%) Frequent (79-30%) HP:0000737
7 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
8 mental deterioration 55 31 frequent (33%) Frequent (79-30%) HP:0001268
9 myoclonus 55 31 frequent (33%) Frequent (79-30%) HP:0001336
10 poor motor coordination 55 31 frequent (33%) Frequent (79-30%) HP:0002275
11 developmental regression 55 31 frequent (33%) Frequent (79-30%) HP:0002376
12 poor hand-eye coordination 55 31 frequent (33%) Frequent (79-30%) HP:0007057
13 leber optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001112
14 dysarthria 55 31 occasional (7.5%) Occasional (29-5%) HP:0001260
15 absence seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0002121
16 febrile seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0002373
17 language impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0002463
18 photosensitive tonic-clonic seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0007207
19 delayed fine motor development 55 31 occasional (7.5%) Occasional (29-5%) HP:0010862
20 hemiplegia 55 31 very rare (1%) Very rare (<4-1%) HP:0002301
21 generalized tonic-clonic seizures 55 Very frequent (99-80%)

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:

38
Eye, Testes

Publications for Myoclonic Epilepsy of Infancy

Articles related to Myoclonic Epilepsy of Infancy:

(show all 47)
# Title Authors Year
1
Follow-up study of idiopathic generalized epilepsy with associated absence seizure and myoclonic epilepsy of infancy. ( 28829985 )
2017
2
Reflex Myoclonic Epilepsy of Infancy: Seizures Induced by TactileA Stimulation. ( 27039230 )
2016
3
Unaltered Network Activity and Interneuronal Firing During Spontaneous Cortical Dynamics In Vivo in a Mouse Model of Severe Myoclonic Epilepsy of Infancy. ( 26819275 )
2016
4
Severe myoclonic epilepsy of infancy: Seizure reduction during adjunctive eslicarbazepine in two cases. ( 26236634 )
2015
5
Activity of drugs and components of natural origin in the severe myoclonic epilepsy of infancy (Dravet syndrome). ( 25924876 )
2015
6
Do pure absence seizures occur in myoclonic epilepsy of infancy? A case series. ( 25564312 )
2015
7
Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant. ( 25669891 )
2014
8
Nocturnal variant of benign myoclonic epilepsy of infancy: a case series. ( 24691296 )
2014
9
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
10
Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression. ( 23086956 )
2012
11
Stiripentol : in severe myoclonic epilepsy of infancy (dravet syndrome). ( 23018548 )
2012
12
Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients. ( 22147323 )
2011
13
Hyperinsulinism and hyperammonaemia syndrome and severe myoclonic epilepsy of infancy. ( 21163222 )
2011
14
"Benign" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency. ( 21865127 )
2011
15
Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients. ( 22028529 )
2011
16
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
17
Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI). ( 20110217 )
2010
18
Novel human pathological mutations. Gene symbol: SCN1A. Disease: Myoclonic epilepsy of infancy. ( 20135149 )
2010
19
Benign myoclonic epilepsy of infancy evolving to Jeavons syndrome. ( 20691946 )
2010
20
Digenic mutations in severe myoclonic epilepsy of infancy. ( 19359143 )
2009
21
An inherited nonsense R1645X mutation in neuronal sodium channel alpha1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy. ( 19809937 )
2009
22
Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy. ( 19694011 )
2009
23
Is benign myoclonic epilepsy of infancy truly idiopathic and generalized? ( 19470419 )
2009
24
[Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy]. ( 19350499 )
2009
25
Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy. ( 18554359 )
2008
26
[Clinical features and SCN1A gene mutation analysis of severe myoclonic epilepsy of infancy]. ( 19099883 )
2008
27
Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy. ( 18680191 )
2008
28
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A. ( 18294202 )
2008
29
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. ( 17881658 )
2007
30
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. ( 17054697 )
2006
31
Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. ( 17190949 )
2006
32
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. ( 17000989 )
2006
33
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. ( 17054685 )
2006
34
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy. ( 16505326 )
2006
35
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. ( 17054684 )
2006
36
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. ( 17030758 )
2006
37
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. ( 16430863 )
2006
38
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. ( 16458823 )
2006
39
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. ( 16541393 )
2006
40
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. ( 15263074 )
2004
41
Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. ( 12773292 )
2003
42
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. ( 12821740 )
2003
43
No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy. ( 12694927 )
2003
44
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. ( 12754708 )
2003
45
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. ( 14504318 )
2003
46
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. ( 11359211 )
2001
47
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:

# 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.58 GABRG2 SCN1A SCN8A
2 transmembrane transport GO:0055085 9.54 GABRG2 SCN1A SCN8A
3 regulation of ion transmembrane transport GO:0034765 9.46 SCN1A SCN8A
4 sodium ion transport GO:0006814 9.43 SCN1A SCN8A
5 sodium ion transmembrane transport GO:0035725 9.32 SCN1A SCN8A
6 regulation of postsynaptic membrane potential GO:0060078 9.26 SCN1A SCN8A
7 neuronal action potential GO:0019228 9.16 SCN1A SCN8A
8 membrane depolarization during action potential GO:0086010 8.96 SCN1A SCN8A
9 ion transmembrane transport GO:0034220 8.8 GABRG2 SCN1A SCN8A

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 9.26 SCN1A SCN8A
2 sodium channel activity GO:0005272 9.16 SCN1A SCN8A
3 voltage-gated sodium channel activity GO:0005248 8.96 SCN1A SCN8A
4 ion channel activity GO:0005216 8.8 GABRG2 SCN1A SCN8A

Sources for Myoclonic Epilepsy of Infancy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....