MCID: INF016
MIFTS: 54

Infantile Epileptic Encephalopathy

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

Summaries for Infantile Epileptic Encephalopathy

NINDS : 54 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, 9 and malignant migrating partial seizures of infancy, and has symptoms including seizures An important gene associated with Infantile Epileptic Encephalopathy is STXBP1 (Syntaxin Binding Protein 1), and among its related pathways/superpathways are G-Beta Gamma Signaling and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Vigabatrin and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and thyroid, 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
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 68)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 9 32.9 CDKL5 PCDH19 SCN1A
2 malignant migrating partial seizures of infancy 31.9 PLCB1 SCN1A SCN2A SLC25A22
3 epileptic encephalopathy, early infantile, 6 30.6 CDKL5 PCDH19 SCN1A SCN2A SCN8A SLC25A22
4 encephalopathy 29.4 CDKL5 NECAP1 PCDH19 SCN1A SLC25A22 SPTAN1
5 early myoclonic encephalopathy 29.2 ARX CDKL5 SCN1A SLC25A22
6 epileptic encephalopathy, early infantile, 15 29.1 ARX CACNA2D2 CDKL5 PCDH19 SCN1A SCN2A
7 west syndrome 27.5 ARX CDKL5 LINC00581 PLCB1 SCN1A SCN2A
8 infantile epileptic encephalopathy 56 12.1
9 infantile epileptic encephalopathy 55 12.1
10 infantile epileptic encephalopathy 57 12.1
11 infantile epileptic encephalopathy 58 12.1
12 infantile epileptic encephalopathy 59 12.1
13 stxbp1 encephalopathy with epilepsy 11.9
14 epileptic encephalopathy, early infantile, 8 11.9
15 microcephaly, seizures, and developmental delay 11.8
16 epileptic encephalopathy, early infantile, 12 11.8
17 epileptic encephalopathy, early infantile, 1 11.7
18 epileptic encephalopathy, early infantile, 7 11.7
19 cdkl5 deficiency disorder 11.6
20 epileptic encephalopathy, early infantile, 3 11.4
21 scn8a-related epilepsy with encephalopathy 11.4
22 epileptic encephalopathy, early infantile, 5 11.2
23 epileptic encephalopathy, early infantile, 11 11.2
24 epileptic encephalopathy, early infantile, 16 11.2
25 epileptic encephalopathy, early infantile, 18 11.2
26 epileptic encephalopathy, early infantile, 21 11.2
27 epileptic encephalopathy, early infantile, 34 11.2
28 gnao1 encephalopathy 11.2
29 multiple congenital anomalies-hypotonia-seizures syndrome 2 11.1
30 epileptic encephalopathy, early infantile, 25 11.1
31 epileptic encephalopathy, early infantile, 26 11.1
32 epileptic encephalopathy, early infantile, 55 11.1
33 epileptic encephalopathy, early infantile, 59 11.1
34 epileptic encephalopathy, early infantile, 61 11.1
35 epileptic encephalopathy, early infantile, 62 11.1
36 pcdh19-related female-limited epilepsy 11.1
37 epileptic encephalopathy, early infantile, 29 11.0
38 epileptic encephalopathy, early infantile, 50 11.0
39 scn2a related disorders 11.0
40 myoclonic epilepsy of infancy 10.5 SCN1A SCN8A
41 febrile infection-related epilepsy syndrome 10.5 PCDH19 SCN1A
42 epilepsy with generalized tonic-clonic seizures 10.4 SCN1A SCN2A
43 seizures, benign familial infantile, 3 10.2 SCN1A SCN2A
44 benign epilepsy with centrotemporal spikes 10.2 PLCB1 SCN2A SPTAN1
45 generalized epilepsy with febrile seizures plus 10.2 SCN1A SCN2A SCN8A
46 undetermined early-onset epileptic encephalopathy 10.2 NECAP1 SCN8A STXBP1
47 lennox-gastaut syndrome 10.1 SCN1A ST3GAL3 STXBP1
48 mental retardation, x-linked, syndromic, hedera type 10.0 ARX SCN2A
49 epileptic encephalopathy, early infantile, 4 10.0
50 epilepsy 10.0

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 9.7 CACNA2D2 CDKL5 PCDH19 PLCB1 SCN1A SCN2A
2 nervous system MP:0003631 9.4 CDKL5 PCDH19 PLCB1 SCN1A SCN2A SCN8A

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 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
3 PK 11195 Phase 4 85532-75-8
4 Anticonvulsants Phase 4,Phase 3,Phase 2,Not Applicable
5 GABA Agents Phase 4,Phase 3,Phase 2,Not Applicable
6
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
7
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
8
Cosyntropin Approved Phase 3 16960-16-0 16129617
9
Ethanol Approved Phase 3 64-17-5 702
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
11
Pyridoxal Approved, Nutraceutical Phase 3,Phase 2 66-72-8 1050
12
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3,Phase 2 65-23-6 1054
13 Strawberry Approved, Nutraceutical Phase 3
14 Antiemetics Phase 3
15 Anti-Inflammatory Agents Phase 3
16 Antineoplastic Agents, Hormonal Phase 3
17 Autonomic Agents Phase 3
18 Gastrointestinal Agents Phase 3
19 glucocorticoids Phase 3
20 Hormone Antagonists Phase 3,Phase 2,Not Applicable
21 Hormones Phase 3,Phase 2,Not Applicable
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Not Applicable
23 Methylprednisolone acetate Phase 3
24 Methylprednisolone Hemisuccinate Phase 3
25 Micronutrients Phase 3,Phase 2
26 Neuroprotective Agents Phase 3
27 Peripheral Nervous System Agents Phase 3,Phase 2
28 Prednisolone acetate Phase 3
29 Prednisolone hemisuccinate Phase 3
30 Prednisolone phosphate Phase 3
31 Protective Agents Phase 3
32 Trace Elements Phase 3,Phase 2
33 Vitamin B 6 Phase 3,Phase 2
34 Vitamin B Complex Phase 3,Phase 2
35 Vitamins Phase 3,Phase 2
36 Calcium, Dietary Phase 2, Phase 3
37 Pharmaceutical Solutions Phase 3,Phase 2,Not Applicable
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
Nitrazepam Approved Phase 2 146-22-5 4506
43
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
44 Adrenocorticotropic Hormone Phase 2,Not Applicable
45 beta-endorphin Phase 2,Not Applicable
46 Melanocyte-Stimulating Hormones Phase 2,Not Applicable
47 Anesthetics Phase 2
48 Central Nervous System Depressants Phase 2
49 Pregnanolone Phase 2 128-20-1
50 Analgesics 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 Prednisolone Versus Vigabatrin in the First-line Treatment of Infantile Spasms Recruiting NCT02299115 Phase 3 Prednisolone;Vigabatrin
7 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
8 A Novel Approach to Infantile Spasms Recruiting NCT03347526 Phase 3 Cosyntropin Injectable Suspension, 1 mg/mL;Cosyntropin Injectable Suspension 1 MG/ML + vigabatrin;Vigabatrin
9 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms (GWPCARE7) Recruiting NCT02953548 Phase 3 GWP42003-P
10 Phase 3 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms: Open-label Extension Phase (GWPCARE7) Enrolling by invitation NCT02954887 Phase 3 GWP42003-P
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 Phase 2 Study of Radiprodil in Subjects With Drug-resistant Infantile Spasms (IS) Recruiting NCT02829827 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 Prevention of West Syndrome With Low-dose Adrenocorticotropin Hormone (ACTH) Unknown status NCT01367964 Not Applicable adrenocorticotropin hormone
20 Epilepsy Phenome/Genome Project Unknown status NCT00552045
21 Molecular Genetics in Infantile Spasms Completed NCT02885389
22 Acceptability Study of a New Paediatric Form of Vigabatrin in Infants and Children With Infantile Spasms or Pharmacoresistant Partial Epilepsy Completed NCT02220114 Not Applicable Vigabatrin: Vigabatrin new ST formulation then Sabril®
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 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, Testes, Thyroid, Cortex, Eye

Publications for Infantile Epileptic Encephalopathy

Articles related to Infantile Epileptic Encephalopathy:

(show top 50) (show all 255)
# 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 homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels. ( 28900819 )
2017
9
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. ( 28413018 )
2017
10
Familial early infantile epileptic encephalopathy and cardiac conduction disorder: A rare cause of SUDEP in infancy. ( 28697420 )
2017
11
Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature review. ( 28551038 )
2017
12
Upregulations of CRH and CRHR1 in the Epileptogenic Tissues of Patients with Intractable Infantile Spasms. ( 27534449 )
2017
13
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. ( 28334793 )
2017
14
Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching. ( 28387369 )
2017
15
Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant. ( 27861786 )
2017
16
Non-invasive, multimodal analysis of cortical activity, blood volume and neurovascular coupling in infantile spasms using EEG-fNIRS monitoring. ( 28580292 )
2017
17
Molecular and genetic insights into an infantile epileptic encephalopathy - CDKL5 disorder. ( 28580010 )
2017
18
Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine. ( 27867041 )
2017
19
Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy. ( 29588952 )
2017
20
Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature. ( 28462982 )
2017
21
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
22
Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX. ( 26306640 )
2016
23
Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing. ( 26721324 )
2016
24
Infantile spasms in Williams-Beuren syndrome with typical deletions of the 7q11.23 critical region and a review of the literature. ( 27062269 )
2016
25
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability. ( 27858369 )
2016
26
TRPM6 mutation: A novel cause of "reversible" infantile epileptic encephalopathy. ( 27625251 )
2016
27
A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A. ( 27896282 )
2016
28
Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function. ( 27069701 )
2016
29
Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy. ( 27876397 )
2016
30
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. ( 26138355 )
2016
31
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy. ( 26645412 )
2016
32
Infantile Spasms during Acute Metabolic Decompensation in an Infant with Isovaleric Acidemia. ( 27165427 )
2016
33
Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 -10p15.1 and 6q22.31 duplication. ( 27386127 )
2016
34
Novel European SLC1A4 variant: infantile spasms and population ancestry analysis. ( 27193218 )
2016
35
ACTH-induced dyskinesia in a child with West syndrome (infantile spasms). ( 26810914 )
2016
36
Vigabatrin Therapy for Infantile Spasms in a Case of Cardiofaciocutaneous Syndrome with Cardiac Hypertrophy Developing during Adrenocorticotropic Hormone Treatment. ( 27680485 )
2016
37
BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood. ( 27282648 )
2016
38
Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene. ( 25091978 )
2015
39
Neurodevelopmental outcomes in children with Down syndrome and infantile spasms. ( 26523121 )
2015
40
SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet. ( 25459969 )
2015
41
Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene. ( 26701947 )
2015
42
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
43
Williams Syndrome with Infantile Spasms. ( 25772942 )
2015
44
Perceived efficacy of cannabidiol-enriched cannabis extracts for treatment of pediatric epilepsy: A potential role for infantile spasms and Lennox-Gastaut syndrome. ( 25935511 )
2015
45
How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium. ( 25779538 )
2015
46
CDKL5 Encephalopathy: A Rare Cause of Infantile Epileptic Encephalopathy. ( 26121742 )
2015
47
Association analysis of polymorphisms of the CRHR1 gene with infantile spasms. ( 25954915 )
2015
48
NECAP1 loss of function leads to a severe infantile epileptic encephalopathy. ( 24399846 )
2014
49
Implications of delayed diagnosis of infantile spasm in a child with Down syndrome. ( 25309120 )
2014
50
Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene. ( 24710820 )
2014

Variations for Infantile Epileptic Encephalopathy

ClinVar genetic disease variations for Infantile Epileptic Encephalopathy:

6
(show top 50) (show all 96)
# 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
2 TSC2 NM_000548.4(TSC2): c.4662+1G> A single nucleotide variant Pathogenic rs45514095 GRCh38 Chromosome 16, 2085323: 2085323
3 STXBP1 NM_003165.3(STXBP1): c.364C> T (p.Arg122Ter) single nucleotide variant Pathogenic rs794727792 GRCh37 Chromosome 9, 130423419: 130423419
4 STXBP1 NM_003165.3(STXBP1): c.364C> T (p.Arg122Ter) single nucleotide variant Pathogenic rs794727792 GRCh38 Chromosome 9, 127661140: 127661140
5 KDM2B NM_032590.4(KDM2B): c.3050G> A (p.Arg1017His) single nucleotide variant Likely pathogenic rs782304760 GRCh37 Chromosome 12, 121880194: 121880194
6 KDM2B NM_032590.4(KDM2B): c.3050G> A (p.Arg1017His) single nucleotide variant Likely pathogenic rs782304760 GRCh38 Chromosome 12, 121442391: 121442391
7 MLLT1 NM_005934.3(MLLT1): c.1418G> A (p.Arg473Gln) single nucleotide variant Likely pathogenic rs749203329 GRCh37 Chromosome 19, 6213798: 6213798
8 MLLT1 NM_005934.3(MLLT1): c.1418G> A (p.Arg473Gln) single nucleotide variant Likely pathogenic rs749203329 GRCh38 Chromosome 19, 6213787: 6213787
9 46;X;t(X;9)(p22.2;p13)dn Translocation Uncertain significance
10 46;X;t(X;8)(p22;p21)dn Translocation Pathogenic
11 PIK3AP1 NC_000010.11: g.(?_96640079)_(96645581_?)dup duplication Uncertain significance GRCh38 Chromosome 10, 96640079: 96645581
12 PIK3AP1 NC_000010.11: g.(?_96640079)_(96645581_?)dup duplication Uncertain significance GRCh37 Chromosome 10, 98399836: 98405338
13 PIK3AP1 NM_152309.2(PIK3AP1): c.2337G> A (p.Val779=) single nucleotide variant Benign rs145459703 GRCh37 Chromosome 10, 98362060: 98362060
14 PIK3AP1 NM_152309.2(PIK3AP1): c.2337G> A (p.Val779=) single nucleotide variant Benign rs145459703 GRCh38 Chromosome 10, 96602303: 96602303
15 PIK3AP1 NM_152309.2(PIK3AP1): c.2294T> C (p.Val765Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 98362103: 98362103
16 PIK3AP1 NM_152309.2(PIK3AP1): c.2294T> C (p.Val765Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 96602346: 96602346
17 PIK3AP1 NM_152309.2(PIK3AP1): c.2251G> T (p.Val751Phe) single nucleotide variant Likely benign rs147376017 GRCh37 Chromosome 10, 98362146: 98362146
18 PIK3AP1 NM_152309.2(PIK3AP1): c.2251G> T (p.Val751Phe) single nucleotide variant Likely benign rs147376017 GRCh38 Chromosome 10, 96602389: 96602389
19 PIK3AP1 NM_152309.2(PIK3AP1): c.2076A> G (p.Gly692=) single nucleotide variant Benign rs141067860 GRCh37 Chromosome 10, 98369563: 98369563
20 PIK3AP1 NM_152309.2(PIK3AP1): c.2076A> G (p.Gly692=) single nucleotide variant Benign rs141067860 GRCh38 Chromosome 10, 96609806: 96609806
21 PIK3AP1 NM_152309.2(PIK3AP1): c.1506T> C (p.Asp502=) single nucleotide variant Benign rs74496843 GRCh37 Chromosome 10, 98386628: 98386628
22 PIK3AP1 NM_152309.2(PIK3AP1): c.1506T> C (p.Asp502=) single nucleotide variant Benign rs74496843 GRCh38 Chromosome 10, 96626871: 96626871
23 PIK3AP1 NM_152309.2(PIK3AP1): c.861T> C (p.Phe287=) single nucleotide variant Benign rs138990701 GRCh37 Chromosome 10, 98411132: 98411132
24 PIK3AP1 NM_152309.2(PIK3AP1): c.861T> C (p.Phe287=) single nucleotide variant Benign rs138990701 GRCh38 Chromosome 10, 96651375: 96651375
25 PIK3AP1 NM_152309.2(PIK3AP1): c.828C> T (p.Ala276=) single nucleotide variant Benign rs35668691 GRCh37 Chromosome 10, 98411293: 98411293
26 PIK3AP1 NM_152309.2(PIK3AP1): c.828C> T (p.Ala276=) single nucleotide variant Benign rs35668691 GRCh38 Chromosome 10, 96651536: 96651536
27 PIK3AP1 NM_152309.2(PIK3AP1): c.767G> A (p.Cys256Tyr) single nucleotide variant Benign rs141221035 GRCh37 Chromosome 10, 98411354: 98411354
28 PIK3AP1 NM_152309.2(PIK3AP1): c.767G> A (p.Cys256Tyr) single nucleotide variant Benign rs141221035 GRCh38 Chromosome 10, 96651597: 96651597
29 PIK3AP1 NM_152309.2(PIK3AP1): c.113G> T (p.Arg38Leu) single nucleotide variant Uncertain significance rs770855063 GRCh37 Chromosome 10, 98469641: 98469641
30 PIK3AP1 NM_152309.2(PIK3AP1): c.113G> T (p.Arg38Leu) single nucleotide variant Uncertain significance rs770855063 GRCh38 Chromosome 10, 96709884: 96709884
31 PIK3AP1 NM_152309.2(PIK3AP1): c.20C> T (p.Pro7Leu) single nucleotide variant Benign rs73334383 GRCh37 Chromosome 10, 98469734: 98469734
32 PIK3AP1 NM_152309.2(PIK3AP1): c.20C> T (p.Pro7Leu) single nucleotide variant Benign rs73334383 GRCh38 Chromosome 10, 96709977: 96709977
33 PIK3AP1 NM_152309.2(PIK3AP1): c.2171-7C> T single nucleotide variant Benign rs111902593 GRCh37 Chromosome 10, 98363813: 98363813
34 PIK3AP1 NM_152309.2(PIK3AP1): c.2171-7C> T single nucleotide variant Benign rs111902593 GRCh38 Chromosome 10, 96604056: 96604056
35 PIK3AP1 NM_152309.2(PIK3AP1): c.471C> T (p.Asp157=) single nucleotide variant Benign rs117500254 GRCh37 Chromosome 10, 98416651: 98416651
36 PIK3AP1 NM_152309.2(PIK3AP1): c.471C> T (p.Asp157=) single nucleotide variant Benign rs117500254 GRCh38 Chromosome 10, 96656894: 96656894
37 PIK3AP1 NM_152309.2(PIK3AP1): c.2379C> T (p.Thr793=) single nucleotide variant Benign rs201824606 GRCh37 Chromosome 10, 98355373: 98355373
38 PIK3AP1 NM_152309.2(PIK3AP1): c.2379C> T (p.Thr793=) single nucleotide variant Benign rs201824606 GRCh38 Chromosome 10, 96595616: 96595616
39 PIK3AP1 NM_152309.2(PIK3AP1): c.1495C> T (p.Leu499=) single nucleotide variant Likely benign rs199720844 GRCh37 Chromosome 10, 98386639: 98386639
40 PIK3AP1 NM_152309.2(PIK3AP1): c.1495C> T (p.Leu499=) single nucleotide variant Likely benign rs199720844 GRCh38 Chromosome 10, 96626882: 96626882
41 PIK3AP1 NM_152309.2(PIK3AP1): c.1092G> A (p.Ala364=) single nucleotide variant Benign rs35035564 GRCh37 Chromosome 10, 98408509: 98408509
42 PIK3AP1 NM_152309.2(PIK3AP1): c.1092G> A (p.Ala364=) single nucleotide variant Benign rs35035564 GRCh38 Chromosome 10, 96648752: 96648752
43 PIK3AP1 NM_152309.2(PIK3AP1): c.1014C> A (p.Thr338=) single nucleotide variant Likely benign rs374819025 GRCh37 Chromosome 10, 98408587: 98408587
44 PIK3AP1 NM_152309.2(PIK3AP1): c.1014C> A (p.Thr338=) single nucleotide variant Likely benign rs374819025 GRCh38 Chromosome 10, 96648830: 96648830
45 PIK3AP1 NM_152309.2(PIK3AP1): c.217G> T (p.Ala73Ser) single nucleotide variant Likely benign rs146527410 GRCh37 Chromosome 10, 98469537: 98469537
46 PIK3AP1 NM_152309.2(PIK3AP1): c.217G> T (p.Ala73Ser) single nucleotide variant Likely benign rs146527410 GRCh38 Chromosome 10, 96709780: 96709780
47 PIK3AP1 NM_152309.2(PIK3AP1): c.153C> T (p.Ala51=) single nucleotide variant Likely benign GRCh37 Chromosome 10, 98469601: 98469601
48 PIK3AP1 NM_152309.2(PIK3AP1): c.153C> T (p.Ala51=) single nucleotide variant Likely benign GRCh38 Chromosome 10, 96709844: 96709844
49 PIK3AP1 NM_152309.2(PIK3AP1): c.2186G> A (p.Arg729His) single nucleotide variant Benign rs569632623 GRCh38 Chromosome 10, 96604034: 96604034
50 PIK3AP1 NM_152309.2(PIK3AP1): c.2186G> A (p.Arg729His) single nucleotide variant Benign rs569632623 GRCh37 Chromosome 10, 98363791: 98363791

Expression for Infantile Epileptic Encephalopathy

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

Pathways for Infantile Epileptic Encephalopathy

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 initial segment GO:0043194 9.26 SCN1A SCN8A
2 sodium channel complex GO:0034706 9.16 SCN1A SCN2A
3 node of Ranvier GO:0033268 9.13 SCN1A SCN2A SCN8A
4 voltage-gated sodium channel complex GO:0001518 8.8 SCN1A SCN2A SCN8A

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 9.8 CACNA2D2 SCN1A SCN2A SCN8A SLC25A22
2 sodium ion transport GO:0006814 9.61 SCN1A SCN2A SCN8A
3 regulation of ion transmembrane transport GO:0034765 9.46 CACNA2D2 SCN1A SCN2A SCN8A
4 sodium ion transmembrane transport GO:0035725 9.43 SCN1A SCN2A SCN8A
5 insulin-like growth factor receptor signaling pathway GO:0048009 9.37 PLCB1 TSC2
6 positive regulation of organ growth GO:0046622 9.32 ARX CACNA2D2
7 membrane depolarization during action potential GO:0086010 9.13 SCN1A SCN2A SCN8A
8 neuronal action potential GO:0019228 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 9.5 SCN1A SCN2A SCN8A
2 voltage-gated ion channel activity GO:0005244 9.43 SCN1A SCN2A SCN8A
3 cation channel activity GO:0005261 9.33 SCN1A SCN2A SCN8A
4 sodium channel activity GO:0005272 9.13 SCN1A SCN2A SCN8A
5 voltage-gated sodium channel activity GO:0005248 8.8 SCN1A SCN2A SCN8A

Sources for Infantile Epileptic Encephalopathy

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17 ExPASy
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