MCID: INF016
MIFTS: 43

Infantile Epileptic Encephalopathy

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

Aliases & Classifications for Infantile Epileptic Encephalopathy

MalaCards integrated aliases for Infantile Epileptic Encephalopathy:

Name: Infantile Epileptic Encephalopathy 12 14
Infantile Spasms 72 50 28 51
Infantile Spasm 12 69
Spasms, Infantile 41
West Syndrome 69

Classifications:



External Ids:

Disease Ontology 12 DOID:2481
ICD10 32 G40.82
ICD9CM 34 345.6
MeSH 41 D013036
NCIt 46 C84788

Summaries for Infantile Epileptic Encephalopathy

NINDS : 50 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 epileptic encephalopathy, early infantile, 9, and has symptoms including seizures An important gene associated with Infantile Epileptic Encephalopathy is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways is Neuroscience. The drugs Vigabatrin and GABA Agents have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and eye, and related phenotypes are behavior/neurological and nervous system

Wikipedia : 72 Epileptic spasms, also known as infantile spasms, juvenile spasms, or West syndrome is an... more...

Related Diseases for Infantile Epileptic Encephalopathy

Diseases in the Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 9 Epileptic Encephalopathy, Early Infantile, 8
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 36
Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 6
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 25
Epileptic Encephalopathy, Early Infantile, 26 Epileptic Encephalopathy, Early Infantile, 27
Epileptic Encephalopathy, Early Infantile, 28 Epileptic Encephalopathy, Early Infantile, 29
Epileptic Encephalopathy, Early Infantile, 30 Epileptic Encephalopathy, Early Infantile, 31
Epileptic Encephalopathy, Early Infantile, 32 Epileptic Encephalopathy, Early Infantile, 33
Epileptic Encephalopathy, Early Infantile, 50 Epileptic Encephalopathy, Early Infantile, 34
Epileptic Encephalopathy, Early Infantile, 35 Epileptic Encephalopathy, Early Infantile, 37
Epileptic Encephalopathy, Early Infantile, 38 Epileptic Encephalopathy, Early Infantile, 40
Epileptic Encephalopathy, Early Infantile, 41 Epileptic Encephalopathy, Early Infantile, 42
Epileptic Encephalopathy, Early Infantile, 43 Epileptic Encephalopathy, Early Infantile, 44
Epileptic Encephalopathy, Early Infantile, 45 Epileptic Encephalopathy, Early Infantile, 46
Epileptic Encephalopathy, Early Infantile, 47 Epileptic Encephalopathy, Early Infantile, 48
Epileptic Encephalopathy, Early Infantile, 49 Epileptic Encephalopathy, Early Infantile, 51
Epileptic Encephalopathy, Early Infantile, 52 Epileptic Encephalopathy, Early Infantile, 53
Epileptic Encephalopathy, Early Infantile, 54 Epileptic Encephalopathy, Early Infantile, 55
Epileptic Encephalopathy, Early Infantile, 56 Epileptic Encephalopathy, Early Infantile, 57
Epileptic Encephalopathy, Early Infantile, 58

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 15 32.0 ARX CACNA2D2 CDKL5 PCDH19 SCN1A STXBP1
2 epileptic encephalopathy, early infantile, 9 31.9 CDKL5 PCDH19 PIGO SCN1A
3 epileptic encephalopathy, early infantile, 6 31.6 CDKL5 PCDH19 SCN1A STXBP1
4 encephalopathy 30.2 ARX CDKL5 PCDH19 SCN1A STXBP1
5 west syndrome 29.9 ARX CDKL5 POMC SCN1A STXBP1 TSC2
6 early myoclonic encephalopathy 29.6 ARX CDKL5 SCN1A
7 stxbp1 encephalopathy with epilepsy 11.9
8 microcephaly, seizures, and developmental delay 11.7
9 epileptic encephalopathy, early infantile, 12 11.7
10 epileptic encephalopathy, early infantile, 1 11.7
11 epileptic encephalopathy, early infantile, 8 11.7
12 epileptic encephalopathy, early infantile, 25 11.7
13 epileptic encephalopathy, early infantile, 26 11.7
14 pcdh19-related female-limited epilepsy 11.7
15 epileptic encephalopathy, early infantile, 7 11.6
16 epileptic encephalopathy, early infantile, 3 11.4
17 scn8a-related epilepsy with encephalopathy 11.3
18 malignant migrating partial seizures of infancy 11.3
19 cdkl5-related disorder 11.2
20 epileptic encephalopathy, early infantile, 5 11.1
21 epileptic encephalopathy, early infantile, 11 11.1
22 epileptic encephalopathy, early infantile, 16 11.1
23 epileptic encephalopathy, early infantile, 18 11.1
24 epileptic encephalopathy, early infantile, 21 11.1
25 epileptic encephalopathy, early infantile, 34 11.1
26 gnao1 encephalopathy 11.1
27 epileptic encephalopathy, early infantile, 29 11.1
28 epileptic encephalopathy, early infantile, 50 11.1
29 febrile infection-related epilepsy syndrome 10.2 PCDH19 SCN1A
30 epileptic encephalopathy, early infantile, 4 10.0
31 epilepsy 10.0
32 conduct disorder 9.9
33 cerebritis 9.9
34 dystonia 9.9
35 neuronitis 9.9
36 hemimegalencephaly 9.9
37 hypersomnia 9.9
38 myoclonus 9.9
39 neonatal period electroclinical syndrome 9.8 ARX SCN1A STXBP1
40 lennox-gastaut syndrome 9.8 POMC SCN1A STXBP1
41 seizure disorder 9.7 CDKL5 SCN1A
42 lissencephaly with cerebellar hypoplasia 9.6 ARX TSC2
43 specific developmental disorder 9.6 ARX CDKL5 POMC
44 epilepsy, idiopathic generalized 9.5 ARX CDKL5 PCDH19 SCN1A
45 autism spectrum disorder 9.4 PCDH19 SCN1A TSC2
46 focal epilepsy 9.4 CDKL5 SCN1A TSC2
47 infancy electroclinical syndrome 9.0 ARX CDKL5 PCDH19 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.5 ARX CACNA2D2 CDKL5 POMC SCN1A STXBP1
2 nervous system MP:0003631 9.23 ARX CACNA2D2 CDKL5 POMC SCN1A SRGAP2

Drugs & Therapeutics for Infantile Epileptic Encephalopathy

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

(show top 50) (show all 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vigabatrin Approved Phase 4,Phase 3,Not Applicable 68506-86-5, 60643-86-9 5665
2 GABA Agents Phase 4,Phase 3,Phase 2,Not Applicable
3 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
4 Anticonvulsants Phase 4,Phase 3,Phase 2,Not Applicable
5 PK 11195 Phase 4 85532-75-8
6
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
7
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
8
Ethanol Approved Phase 3 64-17-5 702
9
Cosyntropin Approved Phase 3 16960-16-0 16129617
10
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3,Phase 2 65-23-6 1054
11
Pyridoxal Approved, Nutraceutical Phase 3,Phase 2 66-72-8 1050
12
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
13 Strawberry Approved, Nutraceutical Phase 3
14 Prednisolone acetate Phase 3
15 glucocorticoids Phase 3
16 Methylprednisolone acetate Phase 3
17 Methylprednisolone Hemisuccinate Phase 3
18 Micronutrients Phase 3,Phase 2
19 Gastrointestinal Agents Phase 3
20 Neuroprotective Agents Phase 3
21 Trace Elements Phase 3,Phase 2
22 Hormone Antagonists Phase 3,Phase 2,Not Applicable
23 Vitamin B 6 Phase 3,Phase 2
24 Vitamin B Complex Phase 3,Phase 2
25 Hormones Phase 3,Phase 2,Not Applicable
26 Vitamins Phase 3,Phase 2
27 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Not Applicable
28 Peripheral Nervous System Agents Phase 3,Phase 2
29 Pharmaceutical Solutions Phase 3,Phase 2,Not Applicable
30 Antiemetics Phase 3
31 Prednisolone hemisuccinate Phase 3
32 Prednisolone phosphate Phase 3
33 Anti-Inflammatory Agents Phase 3
34 Protective Agents Phase 3
35 Antineoplastic Agents, Hormonal Phase 3
36 Autonomic Agents Phase 3
37 Calcium, Dietary Phase 2, Phase 3
38 Folate Nutraceutical Phase 3,Phase 2
39 Vitamin B9 Nutraceutical Phase 3,Phase 2
40 Soy Bean Nutraceutical Phase 2, Phase 3
41
Carbamazepine Approved, Investigational Phase 2 298-46-4 2554
42
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
43
Nitrazepam Approved Phase 2 146-22-5 4506
44 beta-endorphin Phase 2,Not Applicable
45 Adrenocorticotropic Hormone Phase 2,Not Applicable
46 Melanocyte-Stimulating Hormones Phase 2,Not Applicable
47 Pregnanolone Phase 2 128-20-1
48 Analgesics Phase 2
49 Central Nervous System Depressants Phase 2
50 GABA Modulators Phase 2

Interventional clinical trials:

(show all 30)

# Name Status NCT ID Phase Drugs
1 Evaluation of Neuroinflammation in Children With Infantile Spasms Completed NCT02092883 Phase 4 ACTH
2 An Open-Label, Single and Multiple Oral Dose Pharmacokinetic Study of Vigabatrin in Infants With Infantile Spasms Withdrawn NCT01413711 Phase 4 Vigabatrin
3 Addition of Pyridoxine to Prednisolone in Infantile Spasms Unknown status NCT01828437 Phase 3 Pyridoxine plus prednisolone;Prednisolone
4 Use of the Modified Atkins Diet in Infantile Spasms Completed NCT01006811 Phase 2, Phase 3
5 Prednisolone in Infantile Spasms- High Dose Versus Usual Dose Completed NCT01575639 Phase 3 Oral prednisolone
6 A Study to Assess the Efficacy, Safety, and Tolerability of Cannabidiol Oral Solution With Vigabatrin as Initial Therapy in Participants With Infantile Spasms Recruiting NCT03421496 Phase 3 Cannabidiol Oral Solution;Placebo;Vigabatrin
7 A Novel Approach to Infantile Spasms Recruiting NCT03347526 Phase 3 Cosyntropin Injectable Suspension, 1 mg/mL;Cosyntropin Injectable Suspension 1 MG/ML + vigabatrin;Vigabatrin
8 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms (GWPCARE7) Recruiting NCT02953548 Phase 3 GWP42003-P
9 Phase 3 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms: Open-label Extension Phase (GWPCARE7) Enrolling by invitation NCT02954887 Phase 3 GWP42003-P
10 Prednisolone Versus Vigabatrin in the First-line Treatment of Infantile Spasms Not yet recruiting NCT02299115 Phase 3 Prednisolone;Vigabatrin
11 Trial of the Modified Atkins Diet in Infantile Spasms Refractory to Hormonal Therapy Withdrawn NCT01549288 Phase 2, Phase 3
12 A Randomized, Controlled Trial of Ganaxolone in Patients With Infantile Spasms Completed NCT00441896 Phase 2 Ganaxolone
13 Phase II Randomized Study of Early Surgery Vs Multiple Sequential Antiepileptic Drug Therapy for Infantile Spasms Refractory to Standard Treatment Completed NCT00004758 Phase 2 carbamazepine;corticotropin;nitrazepam;pyridoxine;valproic acid
14 A Study of Radiprodil in Subjects With Drug-resistant Infantile Spasms (IS) Recruiting NCT02829827 Phase 1, Phase 2 Radiprodil
15 A Clinical Study to Evaluate the Potential Role of ACTH Gel in Patients With Scleritis Not yet recruiting NCT03465111 Phase 2 ACTH (adrenocorticotropic hormone) gel
16 Cannabidiol Oral Solution for Treatment of Refractory Infantile Spasms Terminated NCT02551731 Phase 2 Cannabidiol Oral Solution
17 Open-label Extension to Protocol 1042-0500 Terminated NCT00442104 Phase 2 Ganaxolone
18 Cannabidiol in Children With Refractory Epileptic Encephalopathy Recruiting NCT03024827 Phase 1 CanniMed® 1:20
19 Acceptability Study of a New Paediatric Form of Vigabatrin in Infants and Children With Infantile Spasms or Pharmacoresistant Partial Epilepsy Unknown status NCT02220114 Not Applicable Vigabatrin: Vigabatrin new ST formulation then Sabril®
20 Prevention of West Syndrome With Low-dose Adrenocorticotropin Hormone (ACTH) Unknown status NCT01367964 Not Applicable adrenocorticotropin hormone
21 Epilepsy Phenome/Genome Project Unknown status NCT00552045
22 Molecular Genetics in Infantile Spasms Completed NCT02885389
23 Short-term Ketogenic Diet as Compared With Conventional Long-term Trial in Refractory Infantile Spasms: A Randomized, Controlled Study Completed NCT00968136
24 Sabril Patient Registry Completed NCT01073579 Sabril®
25 Clinical-genetic Investigations in Children With Early Infantile Epilepsies Completed NCT01357707
26 Metabolic Abnormalities in Children With Epilepsy Completed NCT00001325 18 FDG
27 Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome Recruiting NCT02896608
28 Genetics of Severe Early Onset Epilepsies Recruiting NCT01858285
29 Genetic Studies in Patients and Families With Infantile Spasms Active, not recruiting NCT01723787
30 Potential EEG Biomarkers and Antiepileptogenic Strategies for Epilepsy in TSC Active, not recruiting NCT01767779

Search NIH Clinical Center for Infantile Epileptic Encephalopathy

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: spasms, infantile

Genetic Tests for Infantile Epileptic Encephalopathy

Genetic tests related to Infantile Epileptic Encephalopathy:

# Genetic test Affiliating Genes
1 Infantile Spasms 28

Anatomical Context for Infantile Epileptic Encephalopathy

MalaCards organs/tissues related to Infantile Epileptic Encephalopathy:

38
Testes, Brain, Eye

Publications for Infantile Epileptic Encephalopathy

Articles related to Infantile Epileptic Encephalopathy:

(show top 50) (show all 67)
# Title Authors Year
1
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. ( 28334793 )
2017
2
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. ( 28413018 )
2017
3
Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching. ( 28387369 )
2017
4
Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine. ( 27867041 )
2017
5
A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels. ( 28900819 )
2017
6
Molecular and genetic insights into an infantile epileptic encephalopathy - CDKL5 disorder. ( 28580010 )
2017
7
Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature. ( 28462982 )
2017
8
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
9
Familial early infantile epileptic encephalopathy and cardiac conduction disorder: A rare cause of SUDEP in infancy. ( 28697420 )
2017
10
Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing. ( 26721324 )
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
TRPM6 mutation: A novel cause of "reversible" infantile epileptic encephalopathy. ( 27625251 )
2016
15
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy. ( 26645412 )
2016
16
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
17
CDKL5 Encephalopathy: A Rare Cause of Infantile Epileptic Encephalopathy. ( 26121742 )
2015
18
Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene. ( 26701947 )
2015
19
Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum. ( 24684524 )
2014
20
Ictal electroencephalography and electromyography features in symptomatic infantile epileptic encephalopathy with late-onset spasms. ( 24122274 )
2014
21
Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations. ( 24938147 )
2014
22
CDKL5 variant in a boy with Infantile Epileptic Encephalopathy: Case report. ( 25085838 )
2014
23
A unique phenotype of 2q24.3-2q32.1 duplication: early infantile epileptic encephalopathy without mesomelic dysplasia. ( 23456534 )
2014
24
Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation. ( 24776920 )
2014
25
Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene. ( 24710820 )
2014
26
NECAP1 loss of function leads to a severe infantile epileptic encephalopathy. ( 24399846 )
2014
27
De novo mutations in HCN1 cause early infantile epileptic encephalopathy. ( 24747641 )
2014
28
Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies. ( 23566103 )
2013
29
Epilepsy surgery for early infantile epileptic encephalopathy (ohtahara syndrome). ( 23143728 )
2013
30
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. ( 23339110 )
2013
31
Novel STXBP1 Mutations in 2 Patients With Early Infantile Epileptic Encephalopathy. ( 23533165 )
2013
32
A case of malignant migrating partial seizures in infancy as a continuum of infantile epileptic encephalopathy. ( 22197566 )
2012
33
PCDH19-related infantile epileptic encephalopathy: An unusual X- linked inheritance disorder. ( 22267240 )
2012
34
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). ( 22106086 )
2012
35
De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP. ( 22365152 )
2012
36
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. ( 20887364 )
2010
37
Early infantile epileptic encephalopathy with unusual favourable outcome. ( 19767162 )
2010
38
Infantile epileptic encephalopathy with late-onset spasms: report of 19 patients. ( 20345938 )
2010
39
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. ( 19214208 )
2009
40
Neuroepidemiology of West syndrome and early infantile epileptic encephalopathy in Miyagi Prefecture, Japan. ( 19828294 )
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
The spectrum of SCN1A-related infantile epileptic encephalopathies. ( 17347258 )
2007
44
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). ( 17668384 )
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
West syndrome and other infantile epileptic encephalopathies--Indian hospital experience. ( 11891107 )
2002
48
Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases. ( 11751020 )
2002
49
Oral high-dose phenobarbital therapy for early infantile epileptic encephalopathy. ( 11955931 )
2002
50
Early infantile epileptic encephalopathy (Ohtahara syndrome) after maternal electric injury during pregnancy: etiological considerations. ( 11504609 )
2001

Variations for Infantile Epileptic Encephalopathy

ClinVar genetic disease variations for Infantile Epileptic Encephalopathy:

6
# 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:

# Super pathways Score Top Affiliating Genes
1 11.33 POMC SCN1A STXBP1

GO Terms for Infantile Epileptic Encephalopathy

Cellular components related to Infantile Epileptic Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phagocytic vesicle GO:0045335 8.62 SRGAP2 STXBP1

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

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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