MCID: MYC068
MIFTS: 33

Myoclonic Epilepsy of Infancy malady

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

Aliases & Classifications for Myoclonic Epilepsy of Infancy

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Sources:
52Orphanet, 29ICD10 via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Myoclonic Epilepsy of Infancy:

Name: Myoclonic Epilepsy of Infancy 52
Benign Myoclonic Epilepsy of Infancy 52
 
Benign Myoclonus Epilepsy of Infancy 52

Characteristics:

Orphanet epidemiological data:

52
benign myoclonic epilepsy of infancy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)

Classifications:



External Ids:

Orphanet52 ORPHA86909
ICD10 via Orphanet29 G40.3
UMLS via Orphanet67 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 gabrg2-related dravet syndrome, and has symptoms including Array, Array and Array. An important gene associated with Myoclonic Epilepsy of Infancy is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways are L1CAM interactions and Phase 1 - inactivation of fast Na+ channels. 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
Epilepsy, Progressive Myoclonic 10

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

(show all 24)
idRelated DiseaseScoreTop Affiliating Genes
1dravet syndrome11.9
2gabrg2-related dravet syndrome11.2
3epilepsy10.8
4epilepsy, generalized, with febrile seizures plus, type 210.0
5generalized epilepsy with febrile seizures plus10.0
6epilepsy, juvenile absence 19.9GABRG2, SCN1A
7autoimmune lymphoproliferative syndrome9.9
8hyperinsulinism9.9
9neuronitis9.9
10febrile seizures9.9
11jeavons syndrome9.9
12adolescence-adult electroclinical syndrome9.9GABRG2, SCN1A
13ohtahara syndrome9.9GABRG2, SCN1A
14generalized gangliosidoses9.9GABRG2, SCN1A
15epilepsy, generalized, with febrile seizures plus, type 59.8GABRG2, SCN1A
16mononeuritis multiplex9.8GABRG2, SCN1A
17urethral stricture9.7GABRG2, SCN1A
18juvenile absence epilepsy9.7SCN1A, SCN8A
19granulomatous hepatitis9.6GABRG2, SCN1A
20aceruloplasminemia9.5SCN1A, SCN8A
21erb-duchenne and dejerine-klumpke palsies9.2SCN1A, SCN8A
22gaba aminotransferase deficiency9.2GABRG2, SCN1A, SCN8A
23brachydactyly, type e9.2GABRG2, SCN1A, SCN8A
24idiopathic hemiconvulsion-hemiplegia syndrome8.7EIM, GABRG2, SCN1A, SCN8A

Graphical network of the top 20 diseases related to Myoclonic Epilepsy of Infancy:



Diseases related to myoclonic epilepsy of infancy

Symptoms for Myoclonic Epilepsy of Infancy

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Symptoms:

 52 (show all 18)
  • aggressive behavior
  • irritability
  • leber optic atrophy
  • intellectual disability, mild
  • dysarthria
  • global developmental delay
  • mental deterioration
  • generalized tonic-clonic seizures
  • eeg with irregular generalized spike and wave complexes
  • myoclonus
  • absence seizures
  • generalized myoclonic seizures
  • febrile seizures
  • developmental regression
  • language impairment
  • attention deficit hyperactivity disorder
  • photosensitive tonic-clonic seizures
  • delayed fine motor development

Drugs & Therapeutics for Myoclonic Epilepsy of Infancy

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetics of Severe Early Onset EpilepsiesRecruitingNCT01858285
2Neuronal Excitability of HCN1 Channel Mutations in Dravet SyndromeRecruitingNCT02896608

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:

34
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 46)
idTitleAuthorsYear
1
Reflex Myoclonic Epilepsy of Infancy: Seizures Induced by TactileA Stimulation. (27039230)
2016
2
Unaltered Network Activity and Interneuronal Firing During Spontaneous Cortical Dynamics In Vivo in a Mouse Model of Severe Myoclonic Epilepsy of Infancy. (26819275)
2016
3
Do pure absence seizures occur in myoclonic epilepsy of infancy? A case series. (25564312)
2015
4
Activity of drugs and components of natural origin in the severe myoclonic epilepsy of infancy (Dravet syndrome). (25924876)
2015
5
Severe myoclonic epilepsy of infancy: Seizure reduction during adjunctive eslicarbazepine in two cases. (26236634)
2015
6
Nocturnal variant of benign myoclonic epilepsy of infancy: a case series. (24691296)
2014
7
Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant. (25669891)
2014
8
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
9
Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression. (23086956)
2012
10
Stiripentol : in severe myoclonic epilepsy of infancy (dravet syndrome). (23018548)
2012
11
Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients. (22147323)
2011
12
Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients. (22028529)
2011
13
Hyperinsulinism and hyperammonaemia syndrome and severe myoclonic epilepsy of infancy. (21163222)
2011
14
&quot;Benign&quot; myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency. (21865127)
2011
15
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
16
Benign myoclonic epilepsy of infancy evolving to Jeavons syndrome. (20691946)
2010
17
Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI). (20110217)
2010
18
Novel human pathological mutations. Gene symbol: SCN1A. Disease: Myoclonic epilepsy of infancy. (20135149)
2010
19
Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy. (19694011)
2009
20
Is benign myoclonic epilepsy of infancy truly idiopathic and generalized? (19470419)
2009
21
An inherited nonsense R1645X mutation in neuronal sodium channel alpha1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy. (19809937)
2009
22
Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy]. (19350499)
2009
23
Digenic mutations in severe myoclonic epilepsy of infancy. (19359143)
2009
24
Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy. (18554359)
2008
25
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A. (18294202)
2008
26
Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy. (18680191)
2008
27
Clinical features and SCN1A gene mutation analysis of severe myoclonic epilepsy of infancy]. (19099883)
2008
28
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. (17881658)
2007
29
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. (17054685)
2006
30
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy. (16505326)
2006
31
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. (16430863)
2006
32
Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. (17190949)
2006
33
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. (17030758)
2006
34
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. (17054684)
2006
35
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. (16458823)
2006
36
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. (17000989)
2006
37
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. (16541393)
2006
38
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. (17054697)
2006
39
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. (15263074)
2004
40
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. (12821740)
2003
41
No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy. (12694927)
2003
42
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. (14504318)
2003
43
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. (12754708)
2003
44
Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. (12773292)
2003
45
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (11359211)
2001
46
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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1SCN1A, SCN8A
2
Show member pathways
9.1SCN1A, SCN8A
39.1SCN1A, 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
1voltage-gated sodium channel complexGO:00015189.7SCN1A, SCN8A
2axon initial segmentGO:00431949.6SCN1A, SCN8A
3node of RanvierGO:00332689.4SCN1A, SCN8A
4axonGO:00304249.3GABRG2, SCN1A
5Z discGO:00300189.3SCN1A, SCN8A

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

idNameGO IDScoreTop Affiliating Genes
1membrane depolarization during action potentialGO:00860109.4SCN1A, SCN8A
2regulation of postsynaptic membrane potentialGO:00600789.4SCN1A, SCN8A
3sodium ion transmembrane transportGO:00357259.2SCN1A, SCN8A
4neuronal action potentialGO:00192289.1SCN1A, SCN8A
5sodium ion transportGO:00068149.0SCN1A, SCN8A
6regulation of ion transmembrane transportGO:00347658.8SCN1A, 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

Sources for Myoclonic Epilepsy of Infancy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet