MCID: MYC068
MIFTS: 29

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:
51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Myoclonic Epilepsy of Infancy:

Name: Myoclonic Epilepsy of Infancy 51
Benign Myoclonic Epilepsy of Infancy 51
 
Benign Myoclonus Epilepsy of Infancy 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
benign myoclonic epilepsy of infancy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)


External Ids:

Orphanet51 86909
ICD10 via Orphanet28 G40.3
UMLS via Orphanet66 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 epilepsy, generalized, with febrile seizures plus, type 2. 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 L1CAM interactions and Interaction between L1 and Ankyrins. Affiliated tissues include testes.

Related Diseases for Myoclonic Epilepsy of Infancy

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Diseases in the Myoclonic Epilepsy of Infancy family:

Epilepsy, Myoclonic, Familial Adult, 5 Epilepsy, Myoclonic, Familial Adult, 2
Epilepsy, Progressive Myoclonic 5 Epilepsy, Juvenile Myoclonic 5
Epilepsy, Progressive Myoclonic 2b Myoclonic Epilepsy, Juvenile 1
Epilepsy, Progressive Myoclonic 7 Epilepsy, Progressive Myoclonic 1b
Myoclonic Epilepsy, Infantile, Familial Epilepsy, Progressive Myoclonic 6
Epilepsy, Progressive Myoclonic, 9 Epilepsy, Progressive Myoclonic, 8
Epilepsy, Progressive Myoclonic 1a Epilepsy Progressive Myoclonic Type 3
Cacnb4-Related Juvenile Myoclonic Epilepsy Clcn2-Related Juvenile Myoclonic Epilepsy
Efhc1-Related Juvenile Myoclonic Epilepsy Ejm2-Related Juvenile Myoclonic Epilepsy
Ejm3-Related Juvenile Myoclonic Epilepsy Ejm4-Related Juvenile Myoclonic Epilepsy
Gabra1-Related Juvenile Myoclonic Epilepsy Gabrd-Related Juvenile Myoclonic Epilepsy
Scn1a-Related Severe Myoclonic Epilepsy in 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 20)
idRelated DiseaseScoreTop Affiliating Genes
1dravet syndrome10.8
2epilepsy, generalized, with febrile seizures plus, type 210.3
3autoimmune lymphoproliferative syndrome10.3
4neuronitis10.3
5hyperinsulinism10.3
6generalized epilepsy with febrile seizures plus10.3
7gabrg2-related dravet syndrome10.3
8febrile seizures10.3
9copper deficiency, familial benign10.0GABRG2, SCN1A
10floppy infant syndrome9.9GABRG2, SCN1A
11olfactory nerve disease9.9GABRG2, SCN1A
12idiopathic interstitial pneumonia9.9GABRG2, SCN1A
13follicular adenoma9.9GABRG2, SCN1A
14epithelioid sarcoma9.9GABRG2, SCN1A
15epilepsy, generalized, with febrile seizures plus, type 59.8GABRG2, SCN1A
16epileptic hemiplegia9.7SCN1A, SCN8A
17infective endocarditis9.7GABRG2, SCN1A, SCN8A
18embryoma9.6GABRG2, SCN1A, SCN8A
19myopathy, proximal, with early respiratory muscle involvement9.6GABRG2, SCN1A, SCN8A
20hypothalamic hamartomas with gelastic seizures9.5EIM, GABRG2, SCN1A, 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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetics of Severe Early Onset EpilepsiesRecruitingNCT01858285

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:

33
Testes

Animal Models for Myoclonic Epilepsy of Infancy or affiliated genes

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Publications for Myoclonic Epilepsy of Infancy

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Articles related to Myoclonic Epilepsy of Infancy:

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1SCN1A, SCN8A
29.1SCN1A, 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
1sodium channel complexGO:00347069.6SCN1A, SCN8A
2voltage-gated sodium channel complexGO:00015189.6SCN1A, SCN8A
3axon initial segmentGO:00431949.4SCN1A, SCN8A
4node of RanvierGO:00332689.3SCN1A, SCN8A
5Z discGO:00300189.1SCN1A, SCN8A
6axonGO:00304249.0GABRG2, SCN1A

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1sodium ion transmembrane transportGO:00357259.6SCN1A, SCN8A
2membrane depolarization during action potentialGO:00860109.5SCN1A, SCN8A
3neuronal action potentialGO:00192289.5SCN1A, SCN8A
4regulation of ion transmembrane transportGO:00347659.5SCN1A, SCN8A
5regulation of membrane potentialGO:00423919.3GABRG2, SCN1A
6sodium ion transportGO:00068149.3SCN1A, SCN8A
7adult walking behaviorGO:00076289.2SCN1A, SCN8A
8ion transportGO:00068118.6GABRG2, SCN1A, SCN8A
9transmembrane transportGO:00550858.2GABRG2, SCN1A, SCN8A

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

idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel activityGO:00052489.5SCN1A, SCN8A
2ion channel activityGO:00052169.1SCN1A, SCN8A

Sources for Myoclonic Epilepsy of Infancy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet