MCID: INF016
MIFTS: 44

Infantile Epileptic Encephalopathy

Categories: Neuronal diseases, Genetic diseases, Rare diseases, Eye diseases, Fetal diseases, Metabolic diseases, Mental diseases, Liver diseases, Muscle diseases

Aliases & Classifications for Infantile Epileptic Encephalopathy

MalaCards integrated aliases for Infantile Epileptic Encephalopathy:

Name: Infantile Epileptic Encephalopathy 12 14
Infantile Spasms 51 29 52
Infantile Spasm 12 69
Spasms, Infantile 42
West Syndrome 69

Classifications:



External Ids:

Disease Ontology 12 DOID:2481
ICD10 33 G40.82
ICD9CM 35 345.6
MeSH 42 D013036
NCIt 47 C84788
UMLS 69 C0037769

Summaries for Infantile Epileptic Encephalopathy

NINDS : 51 An infantile spasm (IS) is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves). The onset of infantile spasms is usually in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be replaced by other seizure types. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can give rise to spasms, making it important to identify the underlying cause. In some children, no cause can be found.

MalaCards based summary : Infantile Epileptic Encephalopathy, also known as infantile spasms, is related to epileptic encephalopathy, early infantile, 15 and early infantile epileptic encephalopathy without suppression burst, and has symptoms including seizures An important gene associated with Infantile Epileptic Encephalopathy is TSC2 (Tuberous Sclerosis 2), and among its related pathways/superpathways is Neuroscience. The drugs Methylprednisolone and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and eye, and related phenotypes are behavior/neurological and mortality/aging

Related Diseases for Infantile Epileptic Encephalopathy

Diseases in the Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 23 Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 38 Epileptic Encephalopathy, Early Infantile, 54
Epileptic Encephalopathy, Early Infantile, 50 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 6 Epileptic Encephalopathy, Early Infantile, 39
Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 47
Epileptic Encephalopathy, Early Infantile, 45 Epileptic Encephalopathy, Early Infantile, 40
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 37
Epileptic Encephalopathy, Early Infantile, 5 Epileptic Encephalopathy, Early Infantile, 31
Epileptic Encephalopathy, Early Infantile, 4 Epileptic Encephalopathy, Early Infantile, 14
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 49
Epileptic Encephalopathy, Early Infantile, 41 Epileptic Encephalopathy, Early Infantile, 21
Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 43 Epileptic Encephalopathy, Early Infantile, 48
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 28
Epileptic Encephalopathy, Early Infantile, 25 Epileptic Encephalopathy, Early Infantile, 42
Epileptic Encephalopathy, Early Infantile, 52 Epileptic Encephalopathy, Early Infantile, 46
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 35
Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 33
Epileptic Encephalopathy, Early Infantile, 26 Epileptic Encephalopathy, Early Infantile, 7
Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 53
Epileptic Encephalopathy, Early Infantile, 30 Epileptic Encephalopathy, Early Infantile, 1
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 9
Epileptic Encephalopathy, Early Infantile, 8 Epileptic Encephalopathy, Early Infantile, 36

Diseases related to Infantile Epileptic Encephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
id Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 15 30.7 ARX CACNA2D2 CDKL5 PCDH19 SCN1A STXBP1
2 early infantile epileptic encephalopathy without suppression burst 12.0
3 stxbp1 encephalopathy with epilepsy 11.8
4 epileptic encephalopathy, early infantile, 9 11.7
5 epileptic encephalopathy, early infantile, 12 11.6
6 microcephaly, seizures, and developmental delay 11.6
7 epileptic encephalopathy, early infantile, 26 11.6
8 pcdh19-related female-limited epilepsy 11.6
9 epileptic encephalopathy, early infantile, 8 11.6
10 epileptic encephalopathy, early infantile, 25 11.6
11 west syndrome 11.3
12 malignant migrating partial seizures of infancy 11.2
13 scn8a-related epilepsy with encephalopathy 11.2
14 epileptic encephalopathy, early infantile, 34 11.0
15 epileptic encephalopathy, early infantile, 18 11.0
16 epileptic encephalopathy, early infantile, 7 11.0
17 epileptic encephalopathy, early infantile, 2 11.0
18 epileptic encephalopathy, early infantile, 11 11.0
19 epileptic encephalopathy, early infantile, 5 11.0
20 epileptic encephalopathy, early infantile, 21 11.0
21 epileptic encephalopathy, early infantile, 16 11.0
22 epileptic encephalopathy, early infantile, 17 11.0
23 epileptic encephalopathy, early infantile, 1 10.9
24 epileptic encephalopathy, early infantile, 50 10.9
25 epileptic encephalopathy, early infantile, 6 10.9
26 epileptic encephalopathy, early infantile, 3 10.9
27 epileptic encephalopathy, early infantile, 29 10.9
28 encephalopathy 10.7
29 feingold trainer syndrome 10.2 PCDH19 SCN1A
30 mitochondrial neurogastrointestinal encephalomyopathy 10.1 AARS NECAP1
31 epilepsy 9.9
32 early myoclonic encephalopathy 9.9
33 autosomal dominant nonsyndromic deafness 9.9 POMC SCN1A
34 hemimegalencephaly 9.8
35 hypersomnia 9.8
36 myoclonus 9.8
37 conduct disorder 9.8
38 cerebritis 9.8
39 dystonia 9.8
40 neuronitis 9.8
41 spastic paraplegia 2, x-linked 9.8 CDKL5 PCDH19 SCN1A
42 childhood electroclinical syndrome 9.7 ARX SCN1A STXBP1
43 spinocerebellar degeneration 9.6 CDKL5 SCN1A
44 erythermalgia, primary 9.5 CDKL5 PCDH19 SCN1A STXBP1
45 gingival overgrowth 9.4 ARX CDKL5 SCN1A
46 recombinant 8 syndrome 9.3 ARX TSC2
47 spondylosis 9.1 CDKL5 SCN1A TSC2
48 fainting 8.9 ARX CDKL5 PCDH19 SCN1A STXBP1
49 adolescence-adult electroclinical syndrome 8.4 ARX CDKL5 PCDH19 POMC SCN1A STXBP1
50 peyronie's disease 7.5 ARX CACNA2D2 CDKL5 POMC SCN1A STXBP1

Graphical network of the top 20 diseases related to Infantile Epileptic Encephalopathy:



Diseases related to Infantile Epileptic Encephalopathy

Symptoms & Phenotypes for Infantile Epileptic Encephalopathy

UMLS symptoms related to Infantile Epileptic Encephalopathy:


seizures

MGI Mouse Phenotypes related to Infantile Epileptic Encephalopathy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 AARS ARX CACNA2D2 CDKL5 POMC SCN1A
2 mortality/aging MP:0010768 9.56 AARS ARX CACNA2D2 POMC SCN1A SRGAP2
3 nervous system MP:0003631 9.28 SRGAP2 STXBP1 TSC2 AARS ARX CACNA2D2

Drugs & Therapeutics for Infantile Epileptic Encephalopathy

Drugs for Infantile Epileptic Encephalopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
2
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
3
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
4
Pyridoxal Approved, Nutraceutical Phase 3 66-72-8 1050
5
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
6 Antiemetics Phase 3
7 Anti-Inflammatory Agents Phase 3
8 Antineoplastic Agents, Hormonal Phase 3
9 Autonomic Agents Phase 3
10 Gastrointestinal Agents Phase 3
11 glucocorticoids Phase 3
12 Hormone Antagonists Phase 3
13 Hormones Phase 3
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
15 Methylprednisolone acetate Phase 3
16 Methylprednisolone Hemisuccinate Phase 3
17 Micronutrients Phase 3
18 Neuroprotective Agents Phase 3
19 Peripheral Nervous System Agents Phase 3
20 Prednisolone acetate Phase 3
21 Prednisolone hemisuccinate Phase 3
22 Prednisolone phosphate Phase 3
23 Protective Agents Phase 3
24 Trace Elements Phase 3
25 Vitamin B 6 Phase 3
26 Vitamin B Complex Phase 3
27 Vitamins Phase 3
28 Folate Nutraceutical Phase 3
29 Vitamin B9 Nutraceutical Phase 3
30
Dronabinol Approved, Illicit Phase 1 1972-08-3 16078 2978

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Addition of Pyridoxine to Prednisolone in Infantile Spasms Unknown status NCT01828437 Phase 3 Pyridoxine plus prednisolone;Prednisolone
2 Trial of the Modified Atkins Diet in Infantile Spasms Refractory to Hormonal Therapy Withdrawn NCT01549288 Phase 2, Phase 3
3 Cannabidiol in Children With Refractory Epileptic Encephalopathy Recruiting NCT03024827 Phase 1 CanniMed® 1:20
4 Molecular Genetics in Infantile Spasms Completed NCT02885389
5 Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome Recruiting NCT02896608

Search NIH Clinical Center for Infantile Epileptic Encephalopathy

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: spasms, infantile

Genetic Tests for Infantile Epileptic Encephalopathy

Genetic tests related to Infantile Epileptic Encephalopathy:

id Genetic test Affiliating Genes
1 Infantile Spasms 29

Anatomical Context for Infantile Epileptic Encephalopathy

MalaCards organs/tissues related to Infantile Epileptic Encephalopathy:

39
Testes, Brain, Eye

Publications for Infantile Epileptic Encephalopathy

Articles related to Infantile Epileptic Encephalopathy:

(show top 50) (show all 67)
id Title Authors Year
1
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. ( 28413018 )
2017
2
Exome sequence identified a c.320AA >A G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature. ( 28778787 )
2017
3
Familial early infantile epileptic encephalopathy and cardiac conduction disorder: A rare cause of SUDEP in infancy. ( 28697420 )
2017
4
A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels. ( 28900819 )
2017
5
Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine. ( 27867041 )
2017
6
Molecular and genetic insights into an infantile epileptic encephalopathy - CDKL5 disorder. ( 28580010 )
2017
7
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. ( 28334793 )
2017
8
Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching. ( 28387369 )
2017
9
Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature. ( 28462982 )
2017
10
TRPM6 mutation: A novel cause of "reversible" infantile epileptic encephalopathy. ( 27625251 )
2016
11
BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood. ( 27282648 )
2016
12
Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy. ( 27876397 )
2016
13
Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function. ( 27069701 )
2016
14
Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing. ( 26721324 )
2016
15
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy. ( 26645412 )
2016
16
CDKL5 Encephalopathy: A Rare Cause of Infantile Epileptic Encephalopathy. ( 26121742 )
2015
17
Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene. ( 26701947 )
2015
18
Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy. ( 25951140 )
2015
19
Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation. ( 24776920 )
2014
20
Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene. ( 24710820 )
2014
21
Ictal electroencephalography and electromyography features in symptomatic infantile epileptic encephalopathy with late-onset spasms. ( 24122274 )
2014
22
A unique phenotype of 2q24.3-2q32.1 duplication: early infantile epileptic encephalopathy without mesomelic dysplasia. ( 23456534 )
2014
23
De novo mutations in HCN1 cause early infantile epileptic encephalopathy. ( 24747641 )
2014
24
NECAP1 loss of function leads to a severe infantile epileptic encephalopathy. ( 24399846 )
2014
25
Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum. ( 24684524 )
2014
26
CDKL5 variant in a boy with Infantile Epileptic Encephalopathy: Case report. ( 25085838 )
2014
27
Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations. ( 24938147 )
2014
28
Novel STXBP1 Mutations in 2 Patients With Early Infantile Epileptic Encephalopathy. ( 23533165 )
2013
29
Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies. ( 23566103 )
2013
30
Epilepsy surgery for early infantile epileptic encephalopathy (ohtahara syndrome). ( 23143728 )
2013
31
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. ( 23339110 )
2013
32
De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP. ( 22365152 )
2012
33
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). ( 22106086 )
2012
34
A case of malignant migrating partial seizures in infancy as a continuum of infantile epileptic encephalopathy. ( 22197566 )
2012
35
PCDH19-related infantile epileptic encephalopathy: An unusual X- linked inheritance disorder. ( 22267240 )
2012
36
Infantile epileptic encephalopathy with late-onset spasms: report of 19 patients. ( 20345938 )
2010
37
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. ( 20887364 )
2010
38
Early infantile epileptic encephalopathy with unusual favourable outcome. ( 19767162 )
2010
39
Neuroepidemiology of West syndrome and early infantile epileptic encephalopathy in Miyagi Prefecture, Japan. ( 19828294 )
2009
40
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. ( 19214208 )
2009
41
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. ( 18469812 )
2008
42
Hemispherectomy in early infantile epileptic encephalopathy. ( 17608304 )
2007
43
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). ( 17668384 )
2007
44
The spectrum of SCN1A-related infantile epileptic encephalopathies. ( 17347258 )
2007
45
Hidden focal EEG seizures during prolonged suppressions and high-amplitude bursts in early infantile epileptic encephalopathy. ( 15826852 )
2005
46
Infantile epileptic encephalopathy with hypsarrhythmia (infantile spasms/West syndrome). ( 14734931 )
2003
47
Oral high-dose phenobarbital therapy for early infantile epileptic encephalopathy. ( 11955931 )
2002
48
Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases. ( 11751020 )
2002
49
West syndrome and other infantile epileptic encephalopathies--Indian hospital experience. ( 11891107 )
2002
50
Surgical treatment of early-infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia. ( 11701286 )
2001

Variations for Infantile Epileptic Encephalopathy

ClinVar genetic disease variations for Infantile Epileptic Encephalopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TSC2 NM_000548.4(TSC2): c.4662+1G> A single nucleotide variant Pathogenic rs45514095 GRCh37 Chromosome 16, 2135324: 2135324

Expression for Infantile Epileptic Encephalopathy

Search GEO for disease gene expression data for Infantile Epileptic Encephalopathy.

Pathways for Infantile Epileptic Encephalopathy

Pathways related to Infantile Epileptic Encephalopathy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.31 POMC SCN1A STXBP1

GO Terms for Infantile Epileptic Encephalopathy

Biological processes related to Infantile Epileptic Encephalopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of organ growth GO:0046622 8.62 ARX CACNA2D2

Molecular functions related to Infantile Epileptic Encephalopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Rac GTPase binding GO:0048365 8.62 CDKL5 SRGAP2

Sources for Infantile Epileptic Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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