MCID: MYC068
MIFTS: 38

Myoclonic Epilepsy of Infancy

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

Aliases & Classifications for Myoclonic Epilepsy of Infancy

MalaCards integrated aliases for Myoclonic Epilepsy of Infancy:

Name: Myoclonic Epilepsy of Infancy 59
Benign Myoclonic Epilepsy of Infancy 59
Benign Myoclonus Epilepsy of Infancy 59

Characteristics:

Orphanet epidemiological data:

59
myoclonic epilepsy of infancy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 59  
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. 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, and related phenotypes are intellectual disability, mild and eeg with irregular generalized spike and wave complexes

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 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 22)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 6 31.6 GABRG2 SCN1A SCN8A
2 epilepsy 29.9 GABRG2 SCN1A
3 generalized epilepsy with febrile seizures plus 29.9 GABRG2 SCN1A SCN8A
4 febrile seizures 29.5 GABRG2 SCN1A
5 infantile epileptic encephalopathy 29.1 SCN1A SCN8A
6 epilepsy, idiopathic generalized 28.2 GABRG2 SCN1A SCN8A
7 generalized epilepsy with febrile seizures plus, type 2 11.0
8 myoclonic astatic epilepsy 11.0
9 autoimmune lymphoproliferative syndrome 9.9
10 lymphoproliferative syndrome 9.9
11 hyperinsulinism 9.9
12 neuronitis 9.9
13 jeavons syndrome 9.9
14 seizures, benign familial infantile, 3 9.9 GABRG2 SCN1A
15 adolescence-adult electroclinical syndrome 9.9 GABRG2 SCN1A
16 infancy electroclinical syndrome 9.8 GABRG2 SCN1A
17 epilepsy, nocturnal frontal lobe, 1 9.8 GABRG2 SCN1A
18 early myoclonic encephalopathy 9.8 GABRG2 SCN1A
19 epilepsy, idiopathic generalized 10 9.7 GABRG2 SCN1A
20 epileptic encephalopathy, early infantile, 15 9.3 SCN1A SCN8A
21 west syndrome 9.2 SCN1A SCN8A
22 focal epilepsy 8.9 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:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
2 eeg with irregular generalized spike and wave complexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001326
3 generalized myoclonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002123
4 attention deficit hyperactivity disorder 59 32 hallmark (90%) Very frequent (99-80%) HP:0007018
5 aggressive behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000718
6 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
7 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
8 mental deterioration 59 32 frequent (33%) Frequent (79-30%) HP:0001268
9 myoclonus 59 32 frequent (33%) Frequent (79-30%) HP:0001336
10 poor motor coordination 59 32 frequent (33%) Frequent (79-30%) HP:0002275
11 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
12 poor hand-eye coordination 59 32 frequent (33%) Frequent (79-30%) HP:0007057
13 leber optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001112
14 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
15 absence seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002121
16 febrile seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002373
17 language impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002463
18 photosensitive tonic-clonic seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0007207
19 delayed fine motor development 59 32 occasional (7.5%) Occasional (29-5%) HP:0010862
20 hemiplegia 59 32 very rare (1%) Very rare (<4-1%) HP:0002301
21 generalized tonic-clonic seizures 59 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:

41
Eye, Testes

Publications for Myoclonic Epilepsy of Infancy

Articles related to Myoclonic Epilepsy of Infancy:

(show all 49)
# 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
Do pure absence seizures occur in myoclonic epilepsy of infancy? A case series. ( 25564312 )
2015
5
Activity of drugs and components of natural origin in the severe myoclonic epilepsy of infancy (Dravet syndrome). ( 25924876 )
2015
6
Severe myoclonic epilepsy of infancy: Seizure reduction during adjunctive eslicarbazepine in two cases. ( 26236634 )
2015
7
Nocturnal variant of benign myoclonic epilepsy of infancy: a case series. ( 24691296 )
2014
8
Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant. ( 25669891 )
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
Stiripentol : in severe myoclonic epilepsy of infancy (dravet syndrome). ( 23018548 )
2012
11
Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression. ( 23086956 )
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
Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients. ( 22028529 )
2011
15
&amp;quot;Benign&amp;quot; myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency. ( 21865127 )
2011
16
Novel human pathological mutations. Gene symbol: SCN1A. Disease: Myoclonic epilepsy of infancy. ( 20135149 )
2010
17
Benign myoclonic epilepsy of infancy evolving to Jeavons syndrome. ( 20691946 )
2010
18
Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI). ( 20110217 )
2010
19
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
20
An inherited nonsense R1645X mutation in neuronal sodium channel alpha1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy. ( 19809937 )
2009
21
[Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy]. ( 19350499 )
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
Digenic mutations in severe myoclonic epilepsy of infancy. ( 19359143 )
2009
25
Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy. ( 18554359 )
2008
26
Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy. ( 18680191 )
2008
27
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A. ( 18294202 )
2008
28
[Clinical features and SCN1A gene mutation analysis of severe myoclonic epilepsy of infancy]. ( 19099883 )
2008
29
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. ( 17881658 )
2007
30
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. ( 17000989 )
2006
31
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. ( 16458823 )
2006
32
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. ( 17054685 )
2006
33
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. ( 17054684 )
2006
34
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. ( 16541393 )
2006
35
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. ( 16430863 )
2006
36
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. ( 17054697 )
2006
37
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy. ( 16505326 )
2006
38
Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. ( 17190949 )
2006
39
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. ( 17030758 )
2006
40
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. ( 15263074 )
2004
41
No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy. ( 12694927 )
2003
42
Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. ( 12773292 )
2003
43
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. ( 12821740 )
2003
44
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. ( 14504318 )
2003
45
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. ( 12754708 )
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
48
Benign myoclonic epilepsy of infancy: electroclinical symptomatology and differential diagnosis from the other types of generalized epilepsy of infancy. ( 1418473 )
1992
49
Clinical and neuropathologic findings in a case of severe myoclonic epilepsy of infancy. ( 2111767 )
1990

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 9.5 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 regulation of membrane potential GO:0042391 9.37 GABRG2 SCN1A
5 sodium ion transmembrane transport GO:0035725 9.26 SCN1A SCN8A
6 membrane depolarization during action potential GO:0086010 9.16 SCN1A SCN8A
7 neuronal action potential GO:0019228 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:

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

Sources for Myoclonic Epilepsy of Infancy

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33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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