MCID: INF185
MIFTS: 22

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 Fluorodeoxyglucose F18 and Radiopharmaceuticals 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:

(showing 73, show less)
# 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 episodic kinesigenic dyskinesia 1 10.1
16 encephalopathy 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 hypotonia 9.9
28 paroxysmal choreoathetosis 9.9
29 west syndrome 9.8
30 lennox-gastaut syndrome 9.8
31 status epilepticus 9.8
32 hydrocephalus, congenital, 1 9.7
33 epilepsy, pyridoxine-dependent 9.7
34 sudden infant death syndrome 9.7
35 menkes disease 9.7
36 partington x-linked mental retardation syndrome 9.7
37 russell-silver syndrome, x-linked 9.7
38 ataxia and polyneuropathy, adult-onset 9.7
39 homocysteinemia 9.7
40 pyridoxamine 5-prime-phosphate oxidase deficiency 9.7
41 chromosome 14q11-q22 deletion syndrome 9.7
42 cyanosis, transient neonatal 9.7
43 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
44 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.7
45 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 9.7
46 hemophagocytic lymphohistiocytosis 9.7
47 early infantile epileptic encephalopathy 9.7
48 autosomal recessive disease 9.7
49 generalized epilepsy with febrile seizures plus 9.7
50 porencephaly 9.7
51 myoglobinuria 9.7
52 leukodystrophy 9.7
53 microcephaly 9.7
54 cholesteatoma of middle ear 9.7
55 hemiplegia 9.7
56 astrocytoma 9.7
57 lactic acidosis 9.7
58 myopathy 9.7
59 dystonia 9.7
60 inherited metabolic disorder 9.7
61 cataract 9.7
62 pyridoxine deficiency anemia 9.7
63 homocystinuria 9.7
64 episodic ataxia 9.7
65 16p11.2 recurrent microdeletion 9.7
66 glucose transporter type 1 deficiency syndrome 9.7
67 kcnq2-related disorders 9.7
68 kcnq3-related disorders 9.7
69 genetic epilepsy with febrile seizures plus 9.7
70 myoclonus 9.7
71 ohtahara syndrome 9.7
72 muscular lipidosis 9.7
73 folinic acid-responsive seizures 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):

(showing 2, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Fluorodeoxyglucose F18
2 Radiopharmaceuticals

Interventional clinical trials:

(showing 2, show less)
# Name Status NCT ID Phase Drugs
1 Natural History of Metabolic Abnormalities in Children With Epilepsy Completed NCT00001325 18 FDG
2 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:

(showing 238, show less)
# Title Authors PMID Year
1
Phenotype description in KIF5C gene hot-spot mutations responsible for malformations of cortical development (MCD). 61
32562872 2020
2
Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy. 61
32237035 2020
3
Lacosamide for children with paroxysmal kinesigenic dyskinesia. 61
32430160 2020
4
Missense NR2F1 variant in monozygotic twins affected with the Bosch-Boonstra-Schaaf optic atrophy syndrome. 61
32412696 2020
5
Chemical components, pharmacological actions, and clinical applications of Rhizoma Picrorhizae. 61
31880854 2020
6
Functional analysis of epilepsy-associated variants in STXBP1/Munc18-1 using humanized Caenorhabditis elegans. 61
32112430 2020
7
Different experiences of two PRRT2-associated self-limited familial infantile epilepsy. 61
32246320 2020
8
Artificial escape from XCI by DNA methylation editing of the CDKL5 gene. 61
31925439 2020
9
The clinical and genetic spectrum in infants with (an) unprovoked cluster(s) of focal seizures. 61
31901402 2020
10
Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond. 61
31904126 2019
11
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? 61
31801583 2019
12
[Analysis of SYNE1 gene variant in an infant featuring epilepsy and developmental disorders]. 61
31703138 2019
13
Comparative Effectiveness of Phenobarbital versus Levetiracetam for Infantile Epilepsy. 61
30935720 2019
14
PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia. 61
31154286 2019
15
Ketogenic Diet: A New Light Shining on Old but Gold Biochemistry. 61
31627352 2019
16
A new mouse model of GLUT1 deficiency syndrome exhibits abnormal sleep-wake patterns and alterations of glucose kinetics in the brain. 61
31399478 2019
17
Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations. 61
31112829 2019
18
Paroxysmal and cognitive phenotypes in Prrt2 mutant mice. 61
30884140 2019
19
Splenial Lesions in Benign Convulsions With Gastroenteritis Associated With Rotavirus Infection. 61
32303390 2019
20
PRRT2-related phenotypes in patients with a 16p11.2 deletion. 61
30125676 2019
21
Brain MRI abnormalities in patients with infantile spasms and Down syndrome. 61
30616066 2019
22
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes. 61
30813884 2019
23
Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies. 61
31193310 2019
24
Medications for Early Life Epilepsy: Evidence Versus Experience? 61
30838916 2019
25
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies. 61
30144217 2018
26
[Clinical characteristics and genetic features of benign infantile epilepsy with PRRT2 mutation]. 61
30392205 2018
27
Extending the use of stiripentol to SLC13A5-related epileptic encephalopathy. 61
29895383 2018
28
Glucose Transporter Type 1 Deficiency Syndrome: Developmental Delay and Early-Onset Ataxia in a Novel Mutation of the SLC2A1 Gene. 61
30937099 2018
29
Benign Infantile Epilepsy Mimicking Reflex Anoxic Seizures in an Infant with PRRT2 Gene Mutation. 61
29250726 2018
30
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results. 61
29961512 2018
31
[Phenotype study of SCN2A gene related epilepsy]. 61
29996185 2018
32
Child Neurology: Siblings with infantile epilepsy and developmental delay: A circuitous path to genomic diagnosis. 61
30012655 2018
33
Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy. 61
29538625 2018
34
[Frequency, semiology and prognosis of benign infantile epilepsy]. 61
29645068 2018
35
[Spectrum of mutations in benign familial neonatal-infantile epilepsy]. 61
29614566 2018
36
Epilepsy syndromes during the first year of life and the usefulness of an epilepsy gene panel. 61
29713355 2018
37
Comparative Effectiveness of Levetiracetam vs Phenobarbital for Infantile Epilepsy. 61
29435578 2018
38
Region-specific deletions of the glutamate transporter GLT1 differentially affect seizure activity and neurodegeneration in mice. 61
29214672 2018
39
Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report. 61
29064093 2018
40
A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability. 61
30127718 2018
41
Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort. 61
29215089 2018
42
TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy? 61
29490292 2018
43
PRRT2-Associated Paroxysmal Movement Disorders 61
29334453 2018
44
Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries. 61
28987752 2017
45
A Novel Inherited Mutation of SCN8A in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing. 61
29263050 2017
46
[PRRT2 mutation and infantile convulsions]. 61
28870817 2017
47
Seizing Control of KCC2: A New Therapeutic Target for Epilepsy. 61
28803659 2017
48
Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE). 61
28566192 2017
49
Anticonvulsant effect of cannabinoid receptor agonists in models of seizures in developing rats. 61
28691158 2017
50
A Novel Truncation Mutation of the PRRT2 Gene Resulting in a 16-Amino-Acid Protein Causes Self-inducible Paroxysmal Kinesigenic Dyskinesia. 61
30713971 2017
51
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 61
28379373 2017
52
Novel KCNB1 mutation associated with non-syndromic intellectual disability. 61
27928161 2017
53
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. 61
28132692 2017
54
A case of CDKL5 disorder: improved ADL by simple treatment strategy for intractable epileptic seizures. 61
30011151 2017
55
Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial. 61
27838190 2017
56
Prenatal sonographic diagnosis of fetal valproate syndrome: a case report. 61
27809899 2016
57
Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study. 61
27574005 2016
58
A female patient with a hot spot mutation of PRRT2 gene suffering from several types of epileptic seizures in infancy. 61
30010281 2016
59
Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A. 61
27781028 2016
60
Autosomal dominant SCN8A mutation with an unusually mild phenotype. 61
27210545 2016
61
Current understanding and neurobiology of epileptic encephalopathies. 61
26992889 2016
62
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay. 61
27436767 2016
63
Focal seizures and epileptic spasms in a child with Down syndrome from a family with a PRRT2 mutation. 61
26867511 2016
64
Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy. 61
26876767 2016
65
De novo GABRA1 mutations in Ohtahara and West syndromes. 61
26918889 2016
66
Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. 61
26566883 2016
67
Further Delineation of the ALG9-CDG Phenotype. 61
26453364 2016
68
Neurodevelopmental disorders: Preventative treatment for infantile epilepsy. 61
26718279 2016
69
Unique Distribution of Benzodiazepine Receptors in the Brain during the First Two Years of Life. 61
27193327 2016
70
The evolving spectrum of PRRT2-associated paroxysmal diseases. 61
26598493 2015
71
Neonatal and Infantile Epilepsy: Acquired and Genetic Models. 61
26637437 2015
72
Long-term outcome in pyridoxine-responsive infantile epilepsy. 61
26310861 2015
73
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. 61
26477325 2015
74
Alterations in sociability and functional brain connectivity caused by early-life seizures are prevented by bumetanide. 61
25766676 2015
75
[Progress in molecular genetics of benign familial infantile epilepsy]. 61
26182513 2015
76
Phytocannabinoids and epilepsy. 61
25475762 2015
77
Evaluation of clinical course and neurocognition in children with self-limited infantile epilepsy in a Turkish cohort study. 61
24958006 2015
78
Lamotrigine can be beneficial in patients with Dravet syndrome. 61
25243660 2015
79
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures. 61
25794116 2015
80
PRRT2 mutations are related to febrile seizures in epileptic patients. 61
25522171 2014
81
[Phenotypes and PRRT2 mutation analysis in families with benign familial infantile epilepsy]. 61
25582463 2014
82
Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum. 61
24684524 2014
83
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. 61
24874546 2014
84
Re-evaluation of PRRT2 mutations in paroxysmal disorders. 61
24609974 2014
85
Atypical vitamin B6 deficiency: a rare cause of unexplained neonatal and infantile epilepsies. 61
24114605 2014
86
KCNQ3-Related Disorders 61
24851285 2014
87
PRRT2 mutations: exploring the phenotypical boundaries. 61
24101679 2014
88
Confirming an expanded spectrum of SCN2A mutations: a case series. 61
24659627 2014
89
Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. 61
24973975 2014
90
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. 61
24515575 2014
91
Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum. 61
23220796 2014
92
PRRT2: a major cause of infantile epilepsy and other paroxysmal disorders of childhood. 61
25194488 2014
93
Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis. 61
24370076 2013
94
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. 61
24107868 2013
95
An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current. 61
23758435 2013
96
The ketogenic diet in Dravet syndrome. 61
23653425 2013
97
PRRT2 mutation in Japanese children with benign infantile epilepsy. 61
23131349 2013
98
Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis. 61
23073245 2013
99
Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies. 61
23566103 2013
100
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases. 61
22814679 2013
101
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy. 61
23343561 2013
102
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 61
23339110 2013
103
PRRT2 is mutated in familial and non-familial benign infantile seizures. 61
22902423 2013
104
Identification of MRI1, encoding translation initiation factor eIF-2B subunit alpha/beta/delta-like protein, as a candidate locus for infantile epilepsy with severe cystic degeneration of the brain. 61
23124037 2013
105
A mutation hot-spot for benign infantile epilepsy. 61
23447732 2013
106
Epilepsies in infancy. 61
22962318 2012
107
PRRT2 mutations cause hemiplegic migraine. 61
23077016 2012
108
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. 61
23077018 2012
109
Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. 61
22845787 2012
110
Whole genomes in the clinic: uncovering de novo mutations in sporadic infantile epilepsy. 61
22537398 2012
111
GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder. 61
22212417 2012
112
Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy. 61
22079131 2012
113
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. 61
22243967 2012
114
Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A. 61
21893419 2011
115
Menkes disease and infantile epilepsy. 61
21924848 2011
116
Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy. 61
21778025 2011
117
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. 61
21835305 2011
118
Refractory absence epilepsy associated with GLUT-1 deficiency syndrome. 61
21366555 2011
119
An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy. 61
21416599 2011
120
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. 61
21204215 2011
121
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. 61
20493457 2010
122
Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease. 61
19815814 2010
123
Developmental and epilepsy outcomes at age 4 years in the UKISS trial comparing hormonal treatments to vigabatrin for infantile spasms: a multi-centre randomised trial. 61
20457702 2010
124
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. 61
20371507 2010
125
Benign infantile seizures: a prospective study. 61
19945823 2010
126
Adrenocorticotropic hormone versus pulsatile dexamethasone in the treatment of infantile epilepsy syndromes. 61
20004858 2010
127
Diffuse leptomeningeal astrocytoma in a patient with infantile epilepsy. 61
19273763 2009
128
Neonatal hypoglycemia: role in infantile epilepsy. 61
19242026 2009
129
GABA(A) receptor properties in catastrophic infantile epilepsy. 61
18650066 2008
130
Epileptic syndromes in infancy and childhood. 61
18317274 2008
131
Brain glucose supply and the syndrome of infantile neuroglycopenia. 61
17296829 2007
132
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. 61
16957900 2007
133
[Clinical and polyneuroelectrophysiological characteristics of infantile spasm]. 61
17456338 2007
134
Benign partial epilepsy in infancy long-term outcome and marginal syndromes. 61
16837166 2006
135
Epilepsy syndromes in infancy. 61
16638498 2006
136
[Nephrolithiasis and topiramate]. 61
16450323 2006
137
Pediatric epilepsy models. 61
16377142 2006
138
Familial Paroxysmal Kinesigenic Dyskinesia – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301633 2005
139
[Children with drug-resistant partial epilepsy: criteria for the identification of surgical candidates]. 61
15331969 2004
140
[Type 1 glucose transporter (Glut1) deficiency: manifestations of a hereditary neurological syndrome]. 61
15152356 2004
141
Infantile encephalopathies. 61
14598052 2003
142
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. 61
12742592 2003
143
Rapid determination of total bromide in human serum using an energy-dispersive X-ray spectrometer. 61
12673025 2003
144
[Clinical observation and long-term follow-up of benign infantile epilepsy]. 61
14761317 2003
145
Value of lumbar puncture in the diagnosis of infantile epilepsy and folinic acid-responsive seizures. 61
12597055 2002
146
Classification of infantile seizures: implications for identification and treatment of inborn errors of metabolism. 61
12597050 2002
147
Role of carnitine and fatty acid oxidation and its defects in infantile epilepsy. 61
12597056 2002
148
Mitochondrial disorders. 61
12597054 2002
149
Metabolic evaluation of infantile epilepsy: summary recommendations of the Amalfi Group. 61
12597059 2002
150
Clinical study of catastrophic infantile epilepsy with focal seizures. 61
12504205 2002
151
Characteristics of epilepsy in focal cortical dysplasia in infancy. 61
12350389 2002
152
Infantile seizures and epilepsy syndromes. 61
12060002 2002
153
Brain maturational aspects relevant to pathophysiology of infantile spasms. 61
12040901 2002
154
[The efficacy of lamotrigine in refractory infantile epilepsy]. 61
11562870 2001
155
Identification of epilepsy genes in human and mouse. 61
11700294 2001
156
Disorders of membrane channels or channelopathies. 61
11137655 2001
157
[Electro-clinical concordance for childhood absence epilepsy in monozygotic twins]. 61
11205550 2000
158
[Cases of idiopathic and cryptogenic epilepsias in a regional referral neuropediatric unit]. 61
11082880 2000
159
Mental and behavioural outcome of infantile epilepsy treated by vigabatrin in tuberous sclerosis patients. 61
10642043 2000
160
[Isolated abnormality ("noncompaction") of the myocardium in 3 children]. 61
10412129 1999
161
Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucose-transporter-protein syndrome. 61
10323476 1999
162
Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. 61
9810557 1998
163
[Treatment of refractory infantile epilepsy with vigabatrin in a series of 55 patients]. 61
8983724 1996
164
[Advances in the diagnostic and treatment of infantile epilepsy]. 61
8653617 1996
165
[Infantile epilepsy and sleep]. 61
8556633 1995
166
Asymmetric and asynchronous infantile spasms. 61
7649126 1995
167
Benign familial infantile epilepsy. 61
8021777 1994
168
[Identical twin cases of benign infantile epilepsy with complex partial seizure]. 61
8185983 1994
169
Benign infantile epilepsy with autosomal dominant inheritance. 61
8048696 1994
170
[The enkorat treatment of infantile spasms and the Lennox-Gastaut syndrome]. 61
7740870 1994
171
[Mild partial infantile epilepsy with spike-wave discharges in central and temporal regions]. 61
8029149 1994
172
Benign familial infantile epilepsy. 61
8410514 1993
173
Benign partial epilepsy with secondarily generalized seizures in infancy. 61
8330573 1993
174
[Prognosis in infantile epilepsy. Discontinuation of drug therapy]. 61
2104026 1990
175
Benign infantile epilepsy with complex partial seizures. 61
2211995 1990
176
[Various risk factors for infantile epilepsy relapse after the end of treatment]. 61
2186754 1990
177
Neuropathological aspects of infantile spasms. 61
3324792 1987
178
[Psychosocial aspects of infantile epilepsy]. 61
4089382 1985
179
[Effects of intravenous administration of chlordesmethyldiazepam on paroxysmal intercritical activity in various electroclinical forms of infantile epilepsy]. 61
3938567 1985
180
Status epilepticus and brain maturation. 61
6441980 1984
181
[Petit mal absence and intercritical focal EEG manifestations. Their association with benign infantile epilepsy with rolandic paroxysms]. 61
6419707 1983
182
[Benign infantile epilepsy]. 61
6625368 1983
183
Infantile epilepsy with occipital focus and good prognosis. 61
6404635 1983
184
Classification of partial epilepsies according to the symptomatology of seizures: practical value and prognostic implications. 61
6806089 1982
185
[Science of symptomatology: spasms. Infantile epilepsy and innovation in chronic care--a design of a class for the parents]. 61
6904616 1980
186
[Clinical and electroencephalographic aspects of infantile epilepsy]. 61
7375028 1980
187
[Therapeutic effectiveness of clonazepam (Rivotril) in infantile epilepsy]. 61
531396 1979
188
[Benign infantile epilepsy]. 61
106316 1979
189
[Infantile epilepsy]. 61
100713 1977
190
Demonstration of a little known cause of infantile epilepsy, occipital porencephaly, by computerized tomography (CT). 61
401048 1977
191
[The malignancy of early-onset epilepsy (catamnestic study)]. 61
137521 1976
192
[Semiologic value of tonic-axial crises in children (author's transl)]. 61
1267302 1976
193
Stereotaxic operation for the control of infantile epilepsy and associated behavorial disorder. 61
805685 1975
194
[The "diffusive periods" of infantile epilepsy and their treatment with ACTH]. 61
4375790 1974
195
[Clinico-electroencephalographic studies on the effect of Clonazepam (Ro 5-4023) in infantile epilepsy]. 61
4615573 1974
196
[Catamnestic study of a series of cases of infantile epilepsy in relation to treatment with ethosuccinimide]. 61
4205736 1973
197
[Preliminary notes on the clinical use of sodium diproplyacetate (Depakine) in infantile epilepsy]. 61
4633311 1973
198
[The use of synthetic ACTH in the therapy of infantile epilepsy]. 61
4343345 1972
199
[Use of a new benzodiazepine (clonazepam) in the therapy of infantile epilepsy]. 61
5073984 1972
200
[Clinical and pharmacodynamic correlations of phenobarbital (PB) and diphenylhydantoin (DPH) in the treatment of infantile epilepsy]. 61
5135686 1971
201
[Mechanism of action of desoxycorticosterone acetate (DCA) in the therapy of infantile epilepsy]. 61
5581967 1971
202
[Course and prognosis of infantile epilepsy in relation to present-day treatment]. 61
4327844 1970
203
Electro-clinical correlations in the treatment of infantile epilepsy (without hypsarrhythmia) with ACTH. 61
4182904 1969
204
[Infantile epilepsy in an urban environment (morbidity, clinical and electroencephalographic aspects)]. 61
5778981 1969
205
[Epidemiology of epilepsy (500 cases of infantile epilepsy)]. 61
5374702 1969
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[G-32883 in infantile epilepsy]. 61
5760086 1968
207
[Treatment of infantile epilepsy with desoxycorticosterone acetate (DCA). Long-term results]. 61
5736649 1968
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[Variety of electroencephalographic and clinical responses to ACTH treatment in infantile epilepsy]. 61
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[ACTH in the therapy of infantile epilepsy]. 61
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[Medical therapy of infantile epilepsy]. 61
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[Modern treatment possibilities of infantile epilepsy]. 61
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[Early surgical treatment of occiptal foci in infantile epilepsy. Report of 2 cases]. 61
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[Clinical and electroencephalographic symptomatology of infantile epilepsy]. 61
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[Clinical course forms of infantile epilepsy]. 61
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[Investigations concerning the age of manifestation in infantile epilepsy as a contribution to the question of "genuine" epilepsy]. 61
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[Action of Tegretol on severe infantile epilepsy]. 61
5989704 1966
217
[The use of a new nitroderivative of chlordizepoxide (1,3-dehydro-7-nitro-2H-1-4 benzodiazepin-2-one or Mogadon) in the therapy of infantile epilepsy]. 61
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[Early diagnosis and early treatment of infantile epilepsy]. 61
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[RELATION BETWEEN VARIOUS ASPECTS OF INFANTILE EPILEPSY AND INTELLECTUAL LEVEL]. 61
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[EXPERIENCES WITH OSPOLOT IN THE TREATMENT OF INFANTILE EPILEPSY]. 61
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[Symptomatic infantile epilepsy and intestinal parasitosis]. 61
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[Psychic changes in infantile epilepsy]. 61
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[Myoclonic infantile epilepsy ("hypsarrhythmia")]. 61
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[Mysoline in therapy of infantile epilepsy]. 61
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[Spectacular electroclinical cure of infantile epilepsy with Cobb-Pampiglione electroencephalographic picture]. 61
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[Discussion of the diagnosis and indications for surgery in infantile epilepsy]. 61
13289914 1955
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[Diagnosis, prognosis and therapy of infantile epilepsy; observations in 100 cases. II. Electroencephalographic data]. 61
13267337 1955
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[Diagnosis, prognosis and therapy of infantile epilepsy; observations in 100 cases. I. Anamnestic and clinical data]. 61
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A study on infantile epilepsy. 61
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[Experience with infantile epilepsy]. 61
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[Present day therapy of infantile epilepsy]. 61
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[The medico-social problem of infantile epilepsy]. 61
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[Left temporal supratentorial and subtentorial cholesteatoma; infantile epilepsy]. 61
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[The medico-social problem of infantile epilepsy]. 61
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[Differential diagnosis of infantile epilepsy]. 61
15391906 1949

Variations for Infantile Epilepsy Syndrome

ClinVar genetic disease variations for Infantile Epilepsy Syndrome:

6 (showing 1, show less) ‎‎
# 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
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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36 KEGG
37 LifeMap
39 LOVD
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53 NINDS
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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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