MCID: MYC068
MIFTS: 33

Myoclonic Epilepsy of Infancy malady

Genetic diseases, Neuronal diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Myoclonic Epilepsy of Infancy

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Sources:
47Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Myoclonic Epilepsy of Infancy, Aliases & Descriptions:

Name: Myoclonic Epilepsy of Infancy 47
Benign Myoclonic Epilepsy of Infancy 47
 
Benign Myoclonus Epilepsy of Infancy 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
benign myoclonic epilepsy of infancy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)


External Ids:

Orphanet47 86909
ICD10 via Orphanet26 G40.3
UMLS via Orphanet61 C0751120, C0917800

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.

Related Diseases for Myoclonic Epilepsy of Infancy

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Diseases in the Myoclonic Epilepsy of Infancy family:

Epilepsy, Familial Adult Myoclonic, 5 Epilepsy, Familial Adult Myoclonic, 4
Epilepsy, Progressive Myoclonic 7 Epilepsy, Progressive Myoclonic 5
Epilepsy, Juvenile Myoclonic 5 Epilepsy, Progressive Myoclonic 2b
Myoclonic Epilepsy, Juvenile 1 Epilepsy, Progressive Myoclonic 1b
Myoclonic Epilepsy, Infantile, Familial Epilepsy, Progressive Myoclonic 6
Epilepsy, Progressive Myoclonic 1a Epilepsy Progressive Myoclonic Type 3
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 Benign Adult Familial Myoclonic Epilepsy

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

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1dravet syndrome30.8GABRG2, SCN8A, SCN1A
2febrile seizures30.2GABRG2, SCN1A
3epilepsy with generalized tonic-clonic seizures10.3SCN8A
4autoimmune lymphoproliferative syndrome10.3
5epilepsy, generalized, with febrile seizures plus, type 210.3
6generalized epilepsy with febrile seizures plus10.3
7neuronitis10.3
8hyperinsulinism10.3
9jeavons syndrome10.3
10convulsions benign familial neonatal dominant form10.0SCN1A, GABRG2
11frontal lobe epilepsy10.0GABRG2, SCN1A
12epilepsy, generalized, with febrile seizures plus, type 510.0GABRG2, SCN1A
13focal epilepsy9.9SCN1A, GABRG2
14early myoclonic encephalopathy9.9SCN1A, GABRG2
15epilepsy syndrome9.9GABRG2, SCN1A
16epilepsy, idiopathic generalized9.7SCN8A, GABRG2

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:

31
Testes

Animal Models for Myoclonic Epilepsy of Infancy or affiliated genes

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MGI Mouse Phenotypes related to Myoclonic Epilepsy of Infancy:

35
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 42)
idTitleAuthorsYear
1
Do pure absence seizures occur in myoclonic epilepsy of infancy? A case series. (25564312)
2015
2
Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant. (25669891)
2014
3
Nocturnal variant of benign myoclonic epilepsy of infancy: a case series. (24691296)
2014
4
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
5
Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression. (23086956)
2012
6
Stiripentol : in severe myoclonic epilepsy of infancy (dravet syndrome). (23018548)
2012
7
Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients. (22028529)
2011
8
Hyperinsulinism and hyperammonaemia syndrome and severe myoclonic epilepsy of infancy. (21163222)
2011
9
Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients. (22147323)
2011
10
&quot;Benign&quot; myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency. (21865127)
2011
11
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
12
Benign myoclonic epilepsy of infancy evolving to Jeavons syndrome. (20691946)
2010
13
Novel human pathological mutations. Gene symbol: SCN1A. Disease: Myoclonic epilepsy of infancy. (20135149)
2010
14
Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI). (20110217)
2010
15
Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy. (19694011)
2009
16
Is benign myoclonic epilepsy of infancy truly idiopathic and generalized? (19470419)
2009
17
An inherited nonsense R1645X mutation in neuronal sodium channel alpha1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy. (19809937)
2009
18
Digenic mutations in severe myoclonic epilepsy of infancy. (19359143)
2009
19
Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy]. (19350499)
2009
20
Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy. (18554359)
2008
21
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A. (18294202)
2008
22
Clinical features and SCN1A gene mutation analysis of severe myoclonic epilepsy of infancy]. (19099883)
2008
23
Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy. (18680191)
2008
24
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. (17881658)
2007
25
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. (17054685)
2006
26
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. (17000989)
2006
27
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. (16541393)
2006
28
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy. (16505326)
2006
29
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. (16430863)
2006
30
Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. (17190949)
2006
31
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. (17030758)
2006
32
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. (17054684)
2006
33
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. (16458823)
2006
34
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. (17054697)
2006
35
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. (15263074)
2004
36
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. (12821740)
2003
37
No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy. (12694927)
2003
38
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. (12754708)
2003
39
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. (14504318)
2003
40
Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. (12773292)
2003
41
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (11359211)
2001
42
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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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, 43Novoseek, 12DrugBank, 59Tocris Bioscience, 24HMDB
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Compounds related to Myoclonic Epilepsy of Infancy according to GeneCards Suite gene sharing:

(show all 13)
idCompoundScoreTop Affiliating Genes
1aft-ii289.4SCN1A, SCN8A
2saxitoxin289.4SCN8A, SCN1A
3bc-iii289.4SCN8A, SCN1A
4atx-ii289.4SCN8A, SCN1A
5batrachotoxin289.3SCN1A, SCN8A
6nitrazepam43 1210.3GABRG2, SCN1A
7qx 314 chloride599.3SCN8A, SCN1A
8tetrodotoxin citrate599.3SCN8A, SCN1A
9phrixotoxin 3599.2SCN8A, SCN1A
10veratridine43 59 2811.2SCN1A, SCN8A
11tetrodotoxin43 59 2811.1SCN1A, SCN8A
12potassium43 24 1210.4SCN8A, SCN1A, GABRG2
13sodium43 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1axon initial segmentGO:00431949.2SCN1A, SCN8A
2voltage-gated sodium channel complexGO:00015189.1SCN1A, SCN8A
3neuronal cell bodyGO:00430259.1SCN1A, SCN8A
4node of RanvierGO:00332689.0SCN8A, SCN1A
5Z discGO:00300188.8SCN1A, SCN8A

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

idNameGO IDScoreTop Affiliating Genes
1sodium ion transmembrane transportGO:00357259.1SCN1A, SCN8A
2adult walking behaviorGO:00076289.0SCN1A, SCN8A
3sodium ion transportGO:00068148.8SCN1A, SCN8A

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

idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel activityGO:00052489.1SCN1A, SCN8A

Products for genes affiliated with Myoclonic Epilepsy of Infancy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Myoclonic Epilepsy of Infancy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet