MCID: INF016
MIFTS: 57

Infantile Epileptic Encephalopathy

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

Aliases & Classifications for Infantile Epileptic Encephalopathy

MalaCards integrated aliases for Infantile Epileptic Encephalopathy:

Name: Infantile Epileptic Encephalopathy 12 15
Infantile Spasms 76 54 29 55 6
Infantile Spasm 12 73
Spasms, Infantile 44
West Syndrome 73

Classifications:



External Ids:

Disease Ontology 12 DOID:2481
ICD10 33 G40.82
ICD9CM 35 345.6
MeSH 44 D013036
NCIt 50 C84788
SNOMED-CT 68 28055006

Summaries for Infantile Epileptic Encephalopathy

MalaCards based summary : Infantile Epileptic Encephalopathy, also known as infantile spasms, is related to epileptic encephalopathy, early infantile, 9 and malignant migrating partial seizures of infancy, and has symptoms including seizures An important gene associated with Infantile Epileptic Encephalopathy is LINC00581 (Long Intergenic Non-Protein Coding RNA 581), and among its related pathways/superpathways are Transmission across Chemical Synapses and G-Beta Gamma Signaling. Affiliated tissues include brain, eye and liver, and related phenotypes are behavior/neurological and nervous system

Wikipedia : 76 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 Epileptic Encephalopathy, Early Infantile, 59
Epileptic Encephalopathy, Early Infantile, 60 Epileptic Encephalopathy, Early Infantile, 61
Epileptic Encephalopathy, Early Infantile, 62 Epileptic Encephalopathy, Early Infantile, 63
Epileptic Encephalopathy, Early Infantile, 64 Epileptic Encephalopathy, Early Infantile, 65
Epileptic Encephalopathy, Early Infantile, 66 Epileptic Encephalopathy, Early Infantile, 67
Early Infantile Epileptic Encephalopathy Infantile Epileptic Encephalopathy 56
Infantile Epileptic Encephalopathy 55 Infantile Epileptic Encephalopathy 57
Infantile Epileptic Encephalopathy 58 Infantile Epileptic Encephalopathy 59

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

(show top 50) (show all 194)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 9 32.8 CDKL5 PCDH19 SCN1A
2 malignant migrating partial seizures of infancy 32.2 PLCB1 SCN1A SCN2A
3 early infantile epileptic encephalopathy 32.2 ARHGEF9 CACNA2D2 CDKL5 NECAP1 PCDH19 PLCB1
4 epileptic encephalopathy, early infantile, 6 31.7 CDKL5 PCDH19 SCN1A SCN2A SCN8A STXBP1
5 west syndrome 31.3 CDKL5 LINC00581 PLCB1 SCN1A SCN2A SCN8A
6 encephalopathy 30.7 CDKL5 NECAP1 PCDH19 SCN1A SPTAN1 STXBP1
7 lennox-gastaut syndrome 30.3 SCN1A STXBP1
8 myoclonic epilepsy of infancy 29.9 SCN1A SCN8A
9 febrile infection-related epilepsy syndrome 29.8 PCDH19 SCN1A
10 seizure disorder 29.8 CDKL5 SCN1A SCN2A
11 epilepsy 29.4 CDKL5 PCDH19 SCN1A SCN2A SCN8A STXBP1
12 infantile epileptic encephalopathy 56 12.2
13 infantile epileptic encephalopathy 55 12.2
14 infantile epileptic encephalopathy 57 12.2
15 infantile epileptic encephalopathy 58 12.2
16 infantile epileptic encephalopathy 59 12.2
17 infantile spasms broad thumbs 12.2
18 infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 12.1
19 stxbp1 encephalopathy with epilepsy 12.1
20 aicardi syndrome 12.1
21 epileptic encephalopathy, early infantile, 8 12.0
22 microcephaly, seizures, and developmental delay 11.9
23 epileptic encephalopathy, early infantile, 12 11.9
24 epileptic encephalopathy, early infantile, 39 11.9
25 epileptic encephalopathy, early infantile, 1 11.9
26 epileptic encephalopathy, early infantile, 7 11.8
27 epileptic encephalopathy, early infantile, 15 11.8
28 epileptic encephalopathy, early infantile, 2 11.7
29 epileptic encephalopathy, early infantile, 3 11.5
30 scn8a-related epilepsy with encephalopathy 11.5
31 cryptogenic late-onset epileptic spasms 11.5
32 cdkl5 deficiency disorder 11.5
33 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 11.4
34 epileptic encephalopathy, early infantile, 5 11.4
35 epileptic encephalopathy, early infantile, 11 11.4
36 epileptic encephalopathy, early infantile, 16 11.4
37 epileptic encephalopathy, early infantile, 18 11.4
38 epileptic encephalopathy, early infantile, 21 11.4
39 epileptic encephalopathy, early infantile, 34 11.4
40 epileptic encephalopathy, early infantile, 55 11.4
41 epileptic encephalopathy, early infantile, 59 11.4
42 epileptic encephalopathy, early infantile, 62 11.4
43 gnao1 encephalopathy 11.4
44 lissencephaly 11.3
45 pachygyria 11.3
46 peho syndrome 11.2
47 multiple congenital anomalies-hypotonia-seizures syndrome 2 11.2
48 epileptic encephalopathy, early infantile, 25 11.2
49 epileptic encephalopathy, early infantile, 26 11.2
50 epileptic encephalopathy, early infantile, 61 11.2

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.61 ARHGEF9 CACNA2D2 CDKL5 PCDH19 PLCB1 SCN1A
2 nervous system MP:0003631 9.32 ARHGEF9 CACNA2D2 CDKL5 PCDH19 PLCB1 SCN1A

Drugs & Therapeutics for Infantile Epileptic Encephalopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Trial of the Modified Atkins Diet in Infantile Spasms Refractory to Hormonal Therapy Withdrawn NCT01549288 Phase 2, Phase 3
2 Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome Recruiting NCT02896608

Search NIH Clinical Center for Infantile Epileptic Encephalopathy

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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 29

Anatomical Context for Infantile Epileptic Encephalopathy

MalaCards organs/tissues related to Infantile Epileptic Encephalopathy:

41
Brain, Eye, Liver, Testes, Pituitary, Temporal Lobe, Bone

Publications for Infantile Epileptic Encephalopathy

Articles related to Infantile Epileptic Encephalopathy:

(show top 50) (show all 947)
# Title Authors Year
1
Mutations in SCN3A cause early infantile epileptic encephalopathy. ( 29466837 )
2018
2
LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency. ( 29681092 )
2018
3
Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report. ( 29866057 )
2018
4
Causes of mortality in early infantile epileptic encephalopathy: A systematic review. ( 29906699 )
2018
5
Congenital Zika Syndrome and Infantile Spasms: Case Series Study. ( 29897010 )
2018
6
Kcnj6(GIRK2) trisomy is not sufficient for conferring the susceptibility to infantile spasms seen in the Ts65Dn mouse model of down syndrome. ( 29929098 )
2018
7
Infantile Epileptic Encephalopathy With Multiple Genetic Mutations: How Important are Variants of Undetermined Significance? ( 29961513 )
2018
8
A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy. ( 29986434 )
2018
9
Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome. ( 30107960 )
2018
10
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy. ( 30109124 )
2018
11
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. ( 30323019 )
2018
12
The role of Protocadherin 19 (PCDH19) in neurodevelopment and in the pathophysiology of early infantile epileptic encephalopathy-9 (EIEE9). ( 30431232 )
2018
13
Response to Carbamazepine in KCNQ2 Related Early Infantile Epileptic Encephalopathy. ( 30515704 )
2018
14
De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants. ( 30055040 )
2018
15
High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex. ( 30296632 )
2018
16
CSF nerve growth factor (β-NGF) is increased but CSF insulin-like growth factor-(IGF-1) is normal in children with tuberous sclerosis and infantile spasms. ( 30503720 )
2018
17
Vitamin B12 Deficiency in Children With Infantile Spasms: A Case-Control Study. ( 30032694 )
2018
18
Hypothalamic Hamartoma With Infantile Spasms: Case Report With Surgical Treatment. ( 29961499 )
2018
19
Editorial Comment: Case #26 Hypothalamic Hamartoma and Infantile Spasms. ( 29961500 )
2018
20
Efficacy of ketogenic diet for infantile spasms: A systematic review. ( 28875525 )
2018
21
ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation. ( 28887793 )
2018
22
Efficacy and safety of vigabatrin in Japanese patients with infantile spasms: Primary short-term study and extension study. ( 29190579 )
2018
23
Knowledge, Attitude and Practice (KAP) Study of Pediatricians on Infantile Spasms. ( 29441456 )
2018
24
White matter spongiosis with vigabatrin therapy for infantile spasms. ( 29473152 )
2018
25
Role of pyridoxine in the management of infantile spasms. ( 29547149 )
2018
26
Infantile spasms: The quest for the most effective medical management. ( 29547150 )
2018
27
Addition of pyridoxine to prednisolone in the treatment of infantile spasms: A pilot, randomized controlled trial. ( 29547159 )
2018
28
Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms. ( 29575949 )
2018
29
Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA. ( 29619234 )
2018
30
ACTH and PMX53 recover synaptic transcriptome alterations in a rat model of infantile spasms. ( 29636502 )
2018
31
Utilizing Animal Models of Infantile Spasms. ( 29670486 )
2018
32
Infantile Spasms-Have We Made Progress? ( 29671077 )
2018
33
De Novo KCNQ2 Mutation in One Case of Epilepsy of Infancy With Migrating Focal Seizures That Evolved to Infantile Spasms. ( 29687029 )
2018
34
Clinical characteristics of two cohorts of infantile spasms: response to pyridoxine or topiramate monotherapy. ( 29700769 )
2018
35
Treatment of infantile spasms by pediatric neurologists in Japan. ( 29731400 )
2018
36
Validating an Algorithm to Identify Patients With Infantile Spasms Using Medical Claims. ( 29862876 )
2018
37
Infantile spasms in a mosaic monocentric and duplicated SMC 15 patient. ( 29960745 )
2018
38
Treatment of infantile spasms in Saudi Arabia. ( 30008006 )
2018
39
A triad of infantile spasms, nystagmus and a focal tonic seizure. ( 30063026 )
2018
40
Current Knowledge, Attitude and Practice (KAP) of Pediatricians on Infantile Spasms and the Way Forward. ( 30097844 )
2018
41
Use of electronic medical record templates improves quality of care for patients with infantile spasms. ( 30124080 )
2018
42
Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation. ( 30174244 )
2018
43
Proposition of a Minimal Effective Dose of Vigabatrin for the Treatment of Infantile Spasms Using Pediatric and Adult Pharmacokinetic Data. ( 30192381 )
2018
44
Addition of pyridoxine to prednisolone in the treatment of infantile spasms: The knowledge gaps. ( 30233047 )
2018
45
Precious time to respond to infantile spasms. ( 30236370 )
2018
46
Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial. ( 30236380 )
2018
47
A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient. ( 30289607 )
2018
48
A Serendipitous Case for Shorter Steroid Course in Infantile Spasms. ( 30424958 )
2018
49
Quantitative Characteristics of Hypsarrhythmia in Infantile Spasms. ( 30440453 )
2018
50
Latitudinal differences on the global epidemiology of infantile spasms: systematic review and meta-analysis. ( 30486850 )
2018

Variations for Infantile Epileptic Encephalopathy

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
Show member pathways
12.61 ARHGEF9 CACNA2D2 PLCB1 STXBP1
2
Show member pathways
12.59 CACNA2D2 PLCB1 SCN1A SCN2A SCN8A
3
Show member pathways
12.43 CACNA2D2 SCN1A SCN2A SCN8A
4
Show member pathways
12.25 CACNA2D2 PLCB1 SCN1A SCN2A SCN8A
5 12.2 SCN1A SCN2A SCN8A STXBP1
6
Show member pathways
11.97 CACNA2D2 PLCB1 STXBP1
7
Show member pathways
11.55 SCN1A SCN2A SCN8A SPTAN1
8
Show member pathways
11.13 CACNA2D2 SCN1A SCN2A SCN8A
9 10.4 SCN1A SCN2A SCN8A SPTAN1

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 axon GO:0030424 9.62 SCN1A SCN2A SCN8A STXBP1
2 glutamatergic synapse GO:0098978 9.56 CDKL5 PLCB1 SCN2A STXBP1
3 intercalated disc GO:0014704 9.43 SCN1A SCN2A
4 T-tubule GO:0030315 9.4 SCN1A SCN2A
5 axon initial segment GO:0043194 9.37 SCN1A SCN8A
6 sodium channel complex GO:0034706 9.16 SCN1A SCN2A
7 node of Ranvier GO:0033268 9.13 SCN1A SCN2A SCN8A
8 voltage-gated sodium channel complex GO:0001518 8.8 SCN1A SCN2A SCN8A
9 membrane GO:0016020 10.16 ARHGEF9 CACNA2D2 NECAP1 PCDH19 PLCB1 SCN1A

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.67 CACNA2D2 SCN1A SCN2A SCN8A
2 ion transmembrane transport GO:0034220 9.61 SCN1A SCN2A SCN8A
3 sodium ion transport GO:0006814 9.5 SCN1A SCN2A SCN8A
4 regulation of ion transmembrane transport GO:0034765 9.46 CACNA2D2 SCN1A SCN2A SCN8A
5 sodium ion transmembrane transport GO:0035725 9.43 SCN1A SCN2A SCN8A
6 myelination GO:0042552 9.4 SCN2A SCN8A
7 neuronal action potential GO:0019228 9.13 SCN1A SCN2A SCN8A
8 membrane depolarization during action potential GO:0086010 8.8 SCN1A SCN2A SCN8A

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

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.43 SCN1A SCN2A SCN8A
2 voltage-gated ion channel activity GO:0005244 9.33 SCN1A SCN2A SCN8A
3 sodium channel activity GO:0005272 9.13 SCN1A SCN2A SCN8A
4 voltage-gated sodium channel activity GO:0005248 8.8 SCN1A SCN2A SCN8A

Sources for Infantile Epileptic Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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