MCID: MYC068
MIFTS: 38

Myoclonic Epilepsy of Infancy malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Myoclonic Epilepsy of Infancy

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MalaCards based summary: Myoclonic Epilepsy of Infancy, also known as benign myoclonic epilepsy of infancy, is related to dravet syndrome and febrile seizures. An important gene associated with Myoclonic Epilepsy of Infancy is SCN1A (sodium channel, voltage-gated, type I, alpha subunit), and among its related pathways are Circadian entrainment and L1CAM interactions. The compounds aft-ii and saxitoxin have been mentioned in the context of this disorder. Affiliated tissues include testes, and related mouse phenotype reproductive system.

Aliases & Classifications for Myoclonic Epilepsy of Infancy

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Sources:
48Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Myoclonic Epilepsy of Infancy, Aliases & Descriptions:

Name: Myoclonic Epilepsy of Infancy 48
Benign Myoclonic Epilepsy of Infancy 48
 
Benign Myoclonus Epilepsy of Infancy 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
benign myoclonic epilepsy of infancy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000


External Ids:

ICD10 via Orphanet26 G40.3
UMLS via Orphanet63 C0751120, C0917800

Related Diseases for Myoclonic Epilepsy of Infancy

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Diseases in the Juvenile Myoclonic Epilepsy family:

Epilepsy Progressive Myoclonic Type 3 Progressive Myoclonic Epilepsy 6
Progressive Myoclonic Epilepsy 5 Scn1a-Related Severe Myoclonic Epilepsy in Infancy
Gabra1-Related Juvenile Myoclonic Epilepsy Cacnb4-Related Juvenile Myoclonic Epilepsy
Clcn2-Related Juvenile Myoclonic Epilepsy Gabrd-Related Juvenile Myoclonic Epilepsy
Efhc1-Related Juvenile Myoclonic Epilepsy Ejm2-Related Juvenile Myoclonic Epilepsy
Ejm3-Related Juvenile Myoclonic Epilepsy Ejm4-Related Juvenile Myoclonic Epilepsy
Epilepsy, Familial Adult Myoclonic, 5 Epilepsy, Myoclonic, Adult Familial, 2
Epilepsy, Juvenile Myoclonic 6 Epilepsy, Juvenile Myoclonic 8
Epilepsy, Familial Adult Myoclonic, 4 Epilepsy, Myoclonic, Familial Adult, 3
Myoclonic Epilepsy, Juvenile, 4 Epilepsy, Juvenile Myoclonic 5
Epilepsy, Progressive Myoclonic 2b Epilepsy, Juvenile Myoclonic 3
Epilepsy, Progressive Myoclonic 2a Epilepsy, Myoclonic, Adult Familial, 1
Epilepsy, Progressive Myoclonic 1a myoclonic epilepsy of infancy

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

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1dravet syndrome30.8GABRG2, SCN1A, SCN8A
2febrile seizures30.2GABRG2, SCN1A
3epilepsy with generalized tonic-clonic seizures10.3SCN8A
4hyperinsulinism10.3
5neuronitis10.3
6epilepsy, generalized, with febrile seizures plus, type 210.3
7epilepsy, generalized, with febrile seizures plus, type 110.3
8jeavons syndrome10.3
9convulsions benign familial neonatal dominant form10.0GABRG2, SCN1A
10frontal lobe epilepsy10.0SCN1A, GABRG2
11juvenile myoclonic epilepsy10.0SCN1A, GABRG2
12focal epilepsy9.9SCN1A, GABRG2
13early myoclonic encephalopathy9.9GABRG2, SCN1A
14epilepsy syndrome9.9GABRG2, SCN1A
15idiopathic generalized epilepsy9.8GABRG2, SCN8A

Graphical network of diseases related to Myoclonic Epilepsy of Infancy:



Diseases related to myoclonic epilepsy of infancy

Symptoms for Myoclonic Epilepsy of Infancy

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Drugs & Therapeutics for Myoclonic Epilepsy of Infancy

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Drug clinical trials:

Search ClinicalTrials for Myoclonic Epilepsy of Infancy

Search NIH Clinical Center for Myoclonic Epilepsy of Infancy

Genetic Tests for Myoclonic Epilepsy of Infancy

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Anatomical Context for Myoclonic Epilepsy of Infancy

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MalaCards organs/tissues related to Myoclonic Epilepsy of Infancy:

32
Testes

Animal Models for Myoclonic Epilepsy of Infancy or affiliated genes

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MGI Mouse Phenotypes related to Myoclonic Epilepsy of Infancy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.5GABRG2, SCN1A, SCN8A

Publications for Myoclonic Epilepsy of Infancy

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Articles related to Myoclonic Epilepsy of Infancy:

(show all 40)
idTitleAuthorsYear
1
Nocturnal variant of benign myoclonic epilepsy of infancy: a case series. (24691296)
2014
2
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
3
Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression. (23086956)
2012
4
Stiripentol : in severe myoclonic epilepsy of infancy (dravet syndrome). (23018548)
2012
5
Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients. (22028529)
2011
6
Hyperinsulinism and hyperammonaemia syndrome and severe myoclonic epilepsy of infancy. (21163222)
2011
7
Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients. (22147323)
2011
8
&quot;Benign&quot; myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency. (21865127)
2011
9
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
10
Benign myoclonic epilepsy of infancy evolving to Jeavons syndrome. (20691946)
2010
11
Novel human pathological mutations. Gene symbol: SCN1A. Disease: Myoclonic epilepsy of infancy. (20135149)
2010
12
Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI). (20110217)
2010
13
Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy. (19694011)
2009
14
Is benign myoclonic epilepsy of infancy truly idiopathic and generalized? (19470419)
2009
15
An inherited nonsense R1645X mutation in neuronal sodium channel alpha1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy. (19809937)
2009
16
Digenic mutations in severe myoclonic epilepsy of infancy. (19359143)
2009
17
Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy]. (19350499)
2009
18
Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy. (18554359)
2008
19
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A. (18294202)
2008
20
Clinical features and SCN1A gene mutation analysis of severe myoclonic epilepsy of infancy]. (19099883)
2008
21
Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy. (18680191)
2008
22
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. (17881658)
2007
23
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. (17054685)
2006
24
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. (17000989)
2006
25
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. (16541393)
2006
26
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy. (16505326)
2006
27
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. (16430863)
2006
28
Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. (17190949)
2006
29
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. (17030758)
2006
30
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. (17054684)
2006
31
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. (16458823)
2006
32
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. (17054697)
2006
33
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. (15263074)
2004
34
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. (12821740)
2003
35
No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy. (12694927)
2003
36
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. (12754708)
2003
37
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. (14504318)
2003
38
Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. (12773292)
2003
39
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (11359211)
2001
40
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

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Expression for genes affiliated with Myoclonic Epilepsy of Infancy

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Expression patterns in normal tissues for genes affiliated with Myoclonic Epilepsy of Infancy

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

Pathways for genes affiliated with Myoclonic Epilepsy of Infancy

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Compounds for genes affiliated with Myoclonic Epilepsy of Infancy

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Sources:
28IUPHAR, 44Novoseek, 11DrugBank, 61Tocris Bioscience, 24HMDB
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Compounds related to Myoclonic Epilepsy of Infancy according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1aft-ii289.4SCN1A, SCN8A
2saxitoxin289.4SCN8A, SCN1A
3bc-iii289.4SCN8A, SCN1A
4atx-ii289.4SCN8A, SCN1A
5batrachotoxin289.3SCN1A, SCN8A
6nitrazepam44 1110.3GABRG2, SCN1A
7qx 314 chloride619.3SCN8A, SCN1A
8tetrodotoxin citrate619.3SCN8A, SCN1A
9phrixotoxin 3619.2SCN8A, SCN1A
10veratridine44 61 2811.2SCN1A, SCN8A
11tetrodotoxin44 61 2811.1SCN1A, SCN8A
12potassium44 24 1110.4SCN8A, SCN1A, GABRG2
13sodium44 249.2GABRG2, SCN1A, SCN8A

GO Terms for genes affiliated with Myoclonic Epilepsy of Infancy

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Cellular components related to Myoclonic Epilepsy of Infancy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axon initial segmentGO:0431949.2SCN1A, SCN8A
2voltage-gated sodium channel complexGO:0015189.1SCN1A, SCN8A
3neuronal cell bodyGO:0430259.1SCN1A, SCN8A
4node of RanvierGO:0332689.0SCN8A, SCN1A
5Z discGO:0300188.8SCN1A, SCN8A

Biological processes related to Myoclonic Epilepsy of Infancy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium ion transmembrane transportGO:0357259.1SCN1A, SCN8A
2adult walking behaviorGO:0076289.0SCN1A, SCN8A
3sodium ion transportGO:0068148.8SCN1A, SCN8A

Molecular functions related to Myoclonic Epilepsy of Infancy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel activityGO:0052489.1SCN1A, SCN8A

Products for genes affiliated with Myoclonic Epilepsy of Infancy

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  • Antibodies
  • Proteins
  • Lysates

Sources for Myoclonic Epilepsy of Infancy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet