MCID: MYC068
MIFTS: 37

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: 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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49Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
benign myoclonic epilepsy of infancy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000


Aliases & Descriptions:

myoclonic epilepsy of infancy 49
benign myoclonic epilepsy of infancy 49
benign myoclonus epilepsy of infancy 49


External Ids:

ICD10 via Orphanet26 G40.3
SNOMED-CT via Orphanet59 192990004
UMLS via Orphanet63 C0751120, C0917800

Related Diseases for Myoclonic Epilepsy of Infancy

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17GeneCards, 18GeneDecks
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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 14)
idRelated DiseaseScoreTop Affiliating Genes
1dravet syndrome31.1GABRG2, SCN1A, SCN8A
2febrile seizures30.3GABRG2, SCN1A
3hyperinsulinism10.2
4epilepsy, generalized, with febrile seizures plus, type 210.2
5epilepsy, generalized, with febrile seizures plus, type 310.2
6jeavons syndrome10.2
7epilepsy with generalized tonic-clonic seizures10.1SCN8A
8convulsions benign familial neonatal dominant form10.0GABRG2, SCN1A
9frontal lobe epilepsy10.0SCN1A, GABRG2
10juvenile myoclonic epilepsy10.0SCN1A, GABRG2
11focal epilepsy10.0SCN1A, GABRG2
12early myoclonic encephalopathy10.0GABRG2, SCN1A
13epilepsy syndrome10.0GABRG2, SCN1A
14idiopathic generalized epilepsy9.9GABRG2, 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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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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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33MalaCards
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MalaCards organs/tissues related to Myoclonic Epilepsy of Infancy:

33
Testes

Animal Models for Myoclonic Epilepsy of Infancy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Myoclonic Epilepsy of Infancy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.5GABRG2, SCN1A, SCN8A

Publications for Myoclonic Epilepsy of Infancy

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52PubMed
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Articles related to Myoclonic Epilepsy of Infancy:

(show all 34)
idTitleAuthorsYear
1
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
2
Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression. (23086956)
2012
3
Stiripentol : in severe myoclonic epilepsy of infancy (dravet syndrome). (23018548)
2012
4
Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients. (22028529)
2011
5
Hyperinsulinism and hyperammonaemia syndrome and severe myoclonic epilepsy of infancy. (21163222)
2011
6
Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients. (22147323)
2011
7
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
8
Benign myoclonic epilepsy of infancy evolving to Jeavons syndrome. (20691946)
2010
9
Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI). (20110217)
2010
10
Digenic mutations in severe myoclonic epilepsy of infancy. (19359143)
2009
11
Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy]. (19350499)
2009
12
Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy. (18554359)
2008
13
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A. (18294202)
2008
14
Clinical features and SCN1A gene mutation analysis of severe myoclonic epilepsy of infancy]. (19099883)
2008
15
Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy. (18680191)
2008
16
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. (17881658)
2007
17
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. (17054685)
2006
18
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. (17000989)
2006
19
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. (16541393)
2006
20
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy. (16505326)
2006
21
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. (16430863)
2006
22
Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. (17190949)
2006
23
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. (17030758)
2006
24
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. (17054684)
2006
25
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. (16458823)
2006
26
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. (17054697)
2006
27
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. (15263074)
2004
28
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. (12821740)
2003
29
No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy. (12694927)
2003
30
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. (12754708)
2003
31
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. (14504318)
2003
32
Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. (12773292)
2003
33
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (11359211)
2001
34
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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myoclonic Epilepsy of Infancy

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Pathways for genes affiliated with Myoclonic Epilepsy of Infancy

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50PathCards, 30KEGG, 55Reactome, 53QIAGEN, 12EMD Millipore
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Compounds for genes affiliated with Myoclonic Epilepsy of Infancy

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29IUPHAR, 45Novoseek, 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-ii299.4SCN1A, SCN8A
2saxitoxin299.4SCN8A, SCN1A
3bc-iii299.4SCN8A, SCN1A
4atx-ii299.4SCN8A, SCN1A
5batrachotoxin299.3SCN1A, SCN8A
6nitrazepam45 1110.3GABRG2, SCN1A
7qx 314 chloride619.3SCN8A, SCN1A
8tetrodotoxin citrate619.3SCN8A, SCN1A
9phrixotoxin 3619.2SCN8A, SCN1A
10veratridine45 61 2911.2SCN1A, SCN8A
11tetrodotoxin45 61 2911.1SCN1A, SCN8A
12potassium45 24 1110.4SCN8A, SCN1A, GABRG2
13sodium45 249.2GABRG2, SCN1A, SCN8A

GO Terms for genes affiliated with Myoclonic Epilepsy of Infancy

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16Gene Ontology
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Cellular components related to Myoclonic Epilepsy of Infancy according to GeneCards/GeneDecks:

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

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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Sources for Myoclonic Epilepsy of Infancy

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet