MCID: MYC068
MIFTS: 36

Myoclonic Epilepsy of Infancy malady

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

Aliases & Classifications for Myoclonic Epilepsy of Infancy

About this section
Sources:
31ICD10 via Orphanet, 54Orphanet, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Myoclonic Epilepsy of Infancy:

Name: Myoclonic Epilepsy of Infancy 54
Benign Myoclonic Epilepsy of Infancy 54
 
Benign Myoclonus Epilepsy of Infancy 54

Characteristics:

Orphanet epidemiological data:

54
benign myoclonic epilepsy of infancy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)

Classifications:



External Ids:

Orphanet54 ORPHA86909
ICD10 via Orphanet31 G40.3
UMLS via Orphanet69 C0751120, C0917800

Summaries for Myoclonic Epilepsy of Infancy

About this section
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 0 - rapid depolarisation. Affiliated tissues include eye and testes.

Related Diseases for Myoclonic Epilepsy of Infancy

About this section

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 27)
idRelated DiseaseScoreTop Affiliating Genes
1dravet syndrome12.0
2gabrg2-related dravet syndrome11.1
3epilepsy, generalized, with febrile seizures plus, type 210.9
4generalized epilepsy with febrile seizures plus10.9
5epilepsy10.7
6epileptic encephalopathy, early infantile, 1110.0GABRG2, SCN1A
7deafness, autosomal recessive 6510.0GABRG2, SCN1A
8early onset absence epilepsy10.0GABRG2, SCN1A
9aceruloplasminemia10.0GABRG2, SCN1A
10hydromyelia10.0GABRG2, SCN1A
11gingivitis10.0GABRG2, SCN1A
12autosomal recessive nonsyndromic deafness10.0GABRG2, SCN1A
13bone cancer10.0GABRG2, SCN1A
14spondylosis9.9GABRG2, SCN1A
15mononeuritis multiplex9.9GABRG2, SCN1A
16epilepsy, generalized, with febrile seizures plus, type 59.9GABRG2, SCN1A
17epileptic encephalopathy, early infantile, 159.9SCN1A, SCN8A
18autoimmune lymphoproliferative syndrome9.8
19lymphoproliferative syndrome9.8
20hyperinsulinism9.8
21neuronitis9.8
22febrile seizures9.8
23jeavons syndrome9.8
24floppy infant syndrome9.7SCN1A, SCN8A
25gamma-amino butyric acid metabolism disorder9.7GABRG2, SCN1A, SCN8A
26brachydactyly, type e9.7GABRG2, SCN1A, SCN8A
27familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis9.5EIM, GABRG2, SCN1A, SCN8A

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



Diseases related to myoclonic epilepsy of infancy

Symptoms & Phenotypes for Myoclonic Epilepsy of Infancy

About this section

Human phenotypes related to Myoclonic Epilepsy of Infancy:

 54 64 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, mild64 54 Very frequent (99-80%) HP:0001256
2 eeg with irregular generalized spike and wave complexes64 54 Very frequent (99-80%) HP:0001326
3 generalized tonic-clonic seizures54 Very frequent (99-80%)
4 generalized myoclonic seizures64 54 Very frequent (99-80%) HP:0002123
5 attention deficit hyperactivity disorder64 54 Very frequent (99-80%) HP:0007018
6 aggressive behavior64 54 Frequent (79-30%) HP:0000718
7 irritability64 54 Frequent (79-30%) HP:0000737
8 global developmental delay64 54 Frequent (79-30%) HP:0001263
9 mental deterioration64 54 Frequent (79-30%) HP:0001268
10 myoclonus64 54 Frequent (79-30%) HP:0001336
11 poor motor coordination64 54 Frequent (79-30%) HP:0002275
12 developmental regression64 54 Frequent (79-30%) HP:0002376
13 poor hand-eye coordination64 54 Frequent (79-30%) HP:0007057
14 leber optic atrophy64 54 Occasional (29-5%) HP:0001112
15 dysarthria64 54 Occasional (29-5%) HP:0001260
16 absence seizures64 54 Occasional (29-5%) HP:0002121
17 febrile seizures64 54 Occasional (29-5%) HP:0002373
18 language impairment64 54 Occasional (29-5%) HP:0002463
19 photosensitive tonic-clonic seizures64 54 Occasional (29-5%) HP:0007207
20 delayed fine motor development64 54 Occasional (29-5%) HP:0010862
21 hemiplegia64 54 Very rare (<4-1%) HP:0002301

Drugs & Therapeutics for Myoclonic Epilepsy of Infancy

About this section

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

About this section

Anatomical Context for Myoclonic Epilepsy of Infancy

About this section

MalaCards organs/tissues related to Myoclonic Epilepsy of Infancy:

36
Eye, Testes

Publications for Myoclonic Epilepsy of Infancy

About this section

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
Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant. (25669891)
2014
7
Nocturnal variant of benign myoclonic epilepsy of infancy: a case series. (24691296)
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
Hyperinsulinism and hyperammonaemia syndrome and severe myoclonic epilepsy of infancy. (21163222)
2011
12
Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients. (22028529)
2011
13
Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients. (22147323)
2011
14
Benign" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency. (21865127)
2011
15
Novel human pathological mutations. Gene symbol: SCN1A. Disease: Myoclonic epilepsy of infancy. (20135149)
2010
16
Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI). (20110217)
2010
17
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
18
Benign myoclonic epilepsy of infancy evolving to Jeavons syndrome. (20691946)
2010
19
Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy. (19694011)
2009
20
Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy]. (19350499)
2009
21
Digenic mutations in severe myoclonic epilepsy of infancy. (19359143)
2009
22
Is benign myoclonic epilepsy of infancy truly idiopathic and generalized? (19470419)
2009
23
An inherited nonsense R1645X mutation in neuronal sodium channel alpha1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy. (19809937)
2009
24
Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy. (18554359)
2008
25
Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy. (18680191)
2008
26
Clinical features and SCN1A gene mutation analysis of severe myoclonic epilepsy of infancy]. (19099883)
2008
27
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A. (18294202)
2008
28
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. (17881658)
2007
29
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. (17054697)
2006
30
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. (17000989)
2006
31
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. (17054685)
2006
32
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. (17054684)
2006
33
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. (16541393)
2006
34
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. (16430863)
2006
35
Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. (17190949)
2006
36
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. (17030758)
2006
37
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy. (16505326)
2006
38
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. (16458823)
2006
39
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. (15263074)
2004
40
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. (14504318)
2003
41
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. (12821740)
2003
42
Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. (12773292)
2003
43
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. (12754708)
2003
44
No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy. (12694927)
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

About this section

Expression for genes affiliated with Myoclonic Epilepsy of Infancy

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

Pathways for genes affiliated with Myoclonic Epilepsy of Infancy

About this section

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

About this section

Cellular components related to Myoclonic Epilepsy of Infancy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1axon initial segmentGO:00431949.7SCN1A, SCN8A
2node of RanvierGO:00332689.7SCN1A, SCN8A
3voltage-gated sodium channel complexGO:00015189.7SCN1A, SCN8A
4Z discGO:00300189.1SCN1A, SCN8A

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1membrane depolarization during action potentialGO:00860109.8SCN1A, SCN8A
2neuronal action potentialGO:00192289.8SCN1A, SCN8A
3regulation of ion transmembrane transportGO:00347659.7SCN1A, SCN8A
4regulation of postsynaptic membrane potentialGO:00600789.7SCN1A, SCN8A
5sodium ion transmembrane transportGO:00357259.7SCN1A, SCN8A
6ion transmembrane transportGO:00342209.2GABRG2, SCN1A, SCN8A
7ion transportGO:00068119.2GABRG2, SCN1A, SCN8A
8sodium ion transportGO:00068149.1SCN1A, SCN8A

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

idNameGO IDScoreTop Affiliating Genes
1ion channel activityGO:00052169.7SCN1A, SCN8A
2sodium channel activityGO:00052729.7SCN1A, SCN8A
3voltage-gated ion channel activityGO:00052449.5SCN1A, SCN8A
4voltage-gated sodium channel activityGO:00052489.1SCN1A, SCN8A

Sources for Myoclonic Epilepsy of Infancy

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet