MCID: INF185
MIFTS: 24

Infantile Epilepsy Syndrome

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Infantile Epilepsy Syndrome

MalaCards integrated aliases for Infantile Epilepsy Syndrome:

Name: Infantile Epilepsy Syndrome 58
Infantile Epilepsy 29 6

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G40.4
Orphanet 58 ORPHA98258

Summaries for Infantile Epilepsy Syndrome

MalaCards based summary : Infantile Epilepsy Syndrome, also known as infantile epilepsy, is related to benign familial infantile epilepsy and salt and pepper developmental regression syndrome. An important gene associated with Infantile Epilepsy Syndrome is ST3GAL5 (ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 5). The drugs Serotonin Uptake Inhibitors and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include brain and testes.

Related Diseases for Infantile Epilepsy Syndrome

Diseases in the Epilepsy family:

Benign Familial Infantile Epilepsy Depdc5-Related Epilepsy
Kcnt1-Related Epilepsy Infectious Disease with Epilepsy
Inflammatory and Autoimmune Disease with Epilepsy Infantile Epilepsy Syndrome
Rare Epilepsy

Diseases related to Infantile Epilepsy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 benign familial infantile epilepsy 12.6
2 salt and pepper developmental regression syndrome 12.1
3 seizures, benign familial infantile, 3 12.0
4 convulsions, familial infantile, with paroxysmal choreoathetosis 11.6
5 seizures, benign familial infantile, 1 11.4
6 seizures, benign familial infantile, 2 11.4
7 benign familial neonatal epilepsy 11.4
8 congenital disorder of glycosylation, type il 11.1
9 epilepsy, nocturnal frontal lobe, 4 11.1
10 seizures, benign familial infantile, 5 11.1
11 familial hemiplegic migraine 11.1
12 epilepsy 10.6
13 seizure disorder 10.3
14 visual epilepsy 10.2
15 encephalopathy 10.1
16 episodic kinesigenic dyskinesia 1 10.1
17 epileptic encephalopathy, early infantile, 6 10.0
18 focal epilepsy 10.0
19 febrile seizures 10.0
20 alacrima, achalasia, and mental retardation syndrome 10.0
21 cerebral atrophy 10.0
22 migraine with or without aura 1 9.9
23 epileptic encephalopathy, early infantile, 39 9.9
24 tuberous sclerosis 9.9
25 gastroenteritis 9.9
26 hypoglycemia 9.9
27 hemiplegic migraine 9.9
28 hypotonia 9.9
29 paroxysmal choreoathetosis 9.9
30 west syndrome 9.8
31 lennox-gastaut syndrome 9.8
32 status epilepticus 9.8
33 hydrocephalus, congenital, 1 9.7
34 epilepsy, pyridoxine-dependent 9.7
35 sudden infant death syndrome 9.7
36 menkes disease 9.7
37 partington x-linked mental retardation syndrome 9.7
38 russell-silver syndrome, x-linked 9.7
39 ataxia and polyneuropathy, adult-onset 9.7
40 myoglobinuria, recurrent 9.7
41 homocysteinemia 9.7
42 pyridoxamine 5-prime-phosphate oxidase deficiency 9.7
43 chromosome 14q11-q22 deletion syndrome 9.7
44 cyanosis, transient neonatal 9.7
45 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
46 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.7
47 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 9.7
48 hemophagocytic lymphohistiocytosis 9.7
49 early infantile epileptic encephalopathy 9.7
50 autosomal recessive disease 9.7

Graphical network of the top 20 diseases related to Infantile Epilepsy Syndrome:



Diseases related to Infantile Epilepsy Syndrome

Symptoms & Phenotypes for Infantile Epilepsy Syndrome

Drugs & Therapeutics for Infantile Epilepsy Syndrome

Drugs for Infantile Epilepsy Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Serotonin Uptake Inhibitors Phase 3
2 Neurotransmitter Agents Phase 3
3 Pharmaceutical Solutions Phase 3
4 Serotonin Agents Phase 3
5
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
6 Fluorodeoxyglucose F18

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multicenter, Randomized, Double-blind, Parallel Group, Placebo-controlled Trial of Two Fixed Doses of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Active, not recruiting NCT02682927 Phase 3 ZX008 (Fenfluramine Hydrochloride);Matching Placebo
2 Natural History of Metabolic Abnormalities in Children With Epilepsy Completed NCT00001325 18 FDG
3 A Study of Hemodynamic Changes Using Near Infra-red Spectrometry (NIRS) in Infantile Epilepsy Spasms Recruiting NCT02899832

Search NIH Clinical Center for Infantile Epilepsy Syndrome

Genetic Tests for Infantile Epilepsy Syndrome

Genetic tests related to Infantile Epilepsy Syndrome:

# Genetic test Affiliating Genes
1 Infantile Epilepsy 29

Anatomical Context for Infantile Epilepsy Syndrome

MalaCards organs/tissues related to Infantile Epilepsy Syndrome:

40
Brain, Testes

Publications for Infantile Epilepsy Syndrome

Articles related to Infantile Epilepsy Syndrome:

(show top 50) (show all 231)
# Title Authors PMID Year
1
Artificial escape from XCI by DNA methylation editing of the CDKL5 gene. 61
31925439 2020
2
Chemical components, pharmacological actions, and clinical applications of Rhizoma Picrorhizae. 61
31880854 2019
3
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? 61
31801583 2019
4
Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond. 61
31904126 2019
5
The clinical and genetic spectrum in infants with (an) unprovoked cluster(s) of focal seizures. 61
31901402 2019
6
Comparative Effectiveness of Phenobarbital versus Levetiracetam for Infantile Epilepsy. 61
30935720 2019
7
[Analysis of SYNE1 gene variant in an infant featuring epilepsy and developmental disorders]. 61
31703138 2019
8
Ketogenic Diet: A New Light Shining on Old but Gold Biochemistry. 61
31627352 2019
9
PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia. 61
31154286 2019
10
A new mouse model of GLUT1 deficiency syndrome exhibits abnormal sleep-wake patterns and alterations of glucose kinetics in the brain. 61
31399478 2019
11
Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations. 61
31112829 2019
12
Paroxysmal and cognitive phenotypes in Prrt2 mutant mice. 61
30884140 2019
13
PRRT2-related phenotypes in patients with a 16p11.2 deletion. 61
30125676 2019
14
Brain MRI abnormalities in patients with infantile spasms and Down syndrome. 61
30616066 2019
15
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes. 61
30813884 2019
16
Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies. 61
31193310 2019
17
Medications for Early Life Epilepsy: Evidence Versus Experience? 61
30838916 2019
18
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies. 61
30144217 2018
19
[Clinical characteristics and genetic features of benign infantile epilepsy with PRRT2 mutation]. 61
30392205 2018
20
Extending the use of stiripentol to SLC13A5-related epileptic encephalopathy. 61
29895383 2018
21
Glucose Transporter Type 1 Deficiency Syndrome: Developmental Delay and Early-Onset Ataxia in a Novel Mutation of the SLC2A1 Gene. 61
30937099 2018
22
Benign Infantile Epilepsy Mimicking Reflex Anoxic Seizures in an Infant with PRRT2 Gene Mutation. 61
29250726 2018
23
[Phenotype study of SCN2A gene related epilepsy]. 61
29996185 2018
24
Child Neurology: Siblings with infantile epilepsy and developmental delay: A circuitous path to genomic diagnosis. 61
30012655 2018
25
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results. 61
29961512 2018
26
Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy. 61
29538625 2018
27
[Frequency, semiology and prognosis of benign infantile epilepsy]. 61
29645068 2018
28
Epilepsy syndromes during the first year of life and the usefulness of an epilepsy gene panel. 61
29713355 2018
29
Comparative Effectiveness of Levetiracetam vs Phenobarbital for Infantile Epilepsy. 61
29435578 2018
30
[Spectrum of mutations in benign familial neonatal-infantile epilepsy]. 61
29614566 2018
31
Region-specific deletions of the glutamate transporter GLT1 differentially affect seizure activity and neurodegeneration in mice. 61
29214672 2018
32
Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report. 61
29064093 2018
33
A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability. 61
30127718 2018
34
Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort. 61
29215089 2018
35
TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy? 61
29490292 2018
36
PRRT2-Associated Paroxysmal Movement Disorders 61
29334453 2018
37
Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries. 61
28987752 2017
38
A Novel Inherited Mutation of SCN8A in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing. 61
29263050 2017
39
[PRRT2 mutation and infantile convulsions]. 61
28870817 2017
40
Seizing Control of KCC2: A New Therapeutic Target for Epilepsy. 61
28803659 2017
41
Anticonvulsant effect of cannabinoid receptor agonists in models of seizures in developing rats. 61
28691158 2017
42
Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE). 61
28566192 2017
43
A Novel Truncation Mutation of the PRRT2 Gene Resulting in a 16-Amino-Acid Protein Causes Self-inducible Paroxysmal Kinesigenic Dyskinesia. 61
30713971 2017
44
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 61
28379373 2017
45
Novel KCNB1 mutation associated with non-syndromic intellectual disability. 61
27928161 2017
46
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. 61
28132692 2017
47
A case of CDKL5 disorder: improved ADL by simple treatment strategy for intractable epileptic seizures. 61
30011151 2017
48
Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial. 61
27838190 2017
49
Prenatal sonographic diagnosis of fetal valproate syndrome: a case report. 61
27809899 2016
50
Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study. 61
27574005 2016

Variations for Infantile Epilepsy Syndrome

ClinVar genetic disease variations for Infantile Epilepsy Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MRI1 NM_001031727.4(MRI1):c.629G>A (p.Arg210Gln)SNV Likely pathogenic 183306 rs141094096 19:13879456-13879456 19:13768642-13768642

Expression for Infantile Epilepsy Syndrome

Search GEO for disease gene expression data for Infantile Epilepsy Syndrome.

Pathways for Infantile Epilepsy Syndrome

GO Terms for Infantile Epilepsy Syndrome

Sources for Infantile Epilepsy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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