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EIEE
MCID: ERL057
MIFTS: 61

Early Infantile Epileptic Encephalopathy (EIEE)

Categories: Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Early Infantile Epileptic Encephalopathy

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MalaCards integrated aliases for Early Infantile Epileptic Encephalopathy:

Name: Early Infantile Epileptic Encephalopathy 12 20 53 58 36 15
Early Infantile Epileptic Encephalopathy with Suppression Bursts 29 6
Early Infantile Epileptic Encephalopathy with Suppression-Bursts 58
Early Infantile Epileptic Encephalopathy with Burst-Suppression 12
Encephalopathy, Epileptic, Early Infantile 39
Ohtahara Syndrome 58
Eiee 58

Characteristics:

Orphanet epidemiological data:

58
early infantile epileptic encephalopathy
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Prevalence: 1-9/100000 (Japan),1-9/100000 (United Kingdom); Age of onset: Neonatal; Age of death: early childhood;

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases


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Summaries for Early Infantile Epileptic Encephalopathy

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GARD : 20 Early Infantile Epileptic Encephalopathy (EIEE) is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures (which cause stiffening of muscles of the body, generally those in the back, legs, and arms), but may also experience partial seizures, and rarely, myoclonic seizures (which cause jerks or twitches of the upper body, arms, or legs). Episodes may occur more than a hundred times per day. Most infants with the disorder show underdevelopment of part or all of the cerebral hemispheres or structural anomalies. Some cases are caused by metabolic disorders or by mutations in several different genes. The cause for many cases can't be determined. There are several types of early infantile epileptic encephalopathy. The EEGs reveal a characteristic pattern of high voltage spike wave discharge followed by little activity. This pattern is known as "burst suppression." The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. Some children with this condition go on to develop other epileptic disorders such as West syndrome and Lennox-Gestaut syndrome.

MalaCards based summary : Early Infantile Epileptic Encephalopathy, also known as early infantile epileptic encephalopathy with suppression bursts, is related to developmental and epileptic encephalopathy 4 and dravet syndrome. An important gene associated with Early Infantile Epileptic Encephalopathy is STXBP1 (Syntaxin Binding Protein 1), and among its related pathways/superpathways are Retrograde endocannabinoid signaling and GABAergic synapse. Affiliated tissues include brain, eye and cortex, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.

NINDS : 53 Ohtahara syndrome is an uncommon type of epilepsy characterized by hard to control seizures and developmental delays.  The disorder affects infants, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures (stiffening of the muscles, upward eye gaze, dilated pupils, and altered breathing), but may also experience focal seizures (involving only one area or side of the brain), and rarely, myoclonic seizures (involving sudden muscle jerks). Ohtahara syndrome is classically caused by very abnormal brain structure that may be due to damage or abnormal development.  It also can be due to metabolic disorders or genetic epilepsy syndromes, although the cause or causes for many cases can’t be determined. Recent studies suggest that there is often an identifiable genetic cause of Ohtahara syndrome. Electroencephalography recordings of brain activity of infants with Ohtahara syndrome reveal a characteristic pattern of high voltage abnormal brain activity alternating with periods of very little activity.  This pattern is known as “burst suppression.”

KEGG : 36 Early infantile epileptic encephalopathy (EIEE) is characterized by frequent tonic spasms of early onset within a few months of life, and a suppression-burst pattern in electroencephalography (EEG). Many causes have been considered for EIEE. It has been reported that 75% of the cases subsequently evolve to West syndrome, and later a much smaller number progress to Lennox-Gastaut syndrome.

Wikipedia : 73 Ohtahara syndrome (OS), also known as early infantile epileptic encephalopathy (EIEE) is a progressive... more...

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Related Diseases for Early Infantile Epileptic Encephalopathy

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Diseases in the Early Infantile Epileptic Encephalopathy family:

Arx-Related Epileptic Encephalopathy

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

(show top 50) (show all 226)
# Related Disease Score Top Affiliating Genes
1 developmental and epileptic encephalopathy 4 33.8 STXBP1 LMX1B CDKL5
2 dravet syndrome 33.5 STXBP1 SLC25A22 SCN8A SCN2A SCN1A LOC102724058
3 developmental and epileptic encephalopathy 9 33.5 STXBP1 SCN1A KCNQ2 CDKL5
4 developmental and epileptic encephalopathy 14 33.5 SCN8A SCN2A SCN1A CDKL5
5 developmental and epileptic encephalopathy 1 33.5 STXBP1 SLC25A22 SCN1A KCNQ2 GNAO1 CDKL5
6 ohtahara syndrome 33.4 UBA5 STXBP1 SPTAN1 SLC25A22 SCN8A SCN2A
7 developmental and epileptic encephalopathy 13 33.4 SCN8A SCN2A SCN1A
8 malignant migrating partial seizures of infancy 33.2 SLC25A22 SCN2A SCN1A LOC102724058
9 developmental and epileptic encephalopathy 5 33.1 SPTAN1 KCNQ2
10 stxbp1 encephalopathy 33.0 STXBP1 LMX1B CDKL5
11 encephalopathy 32.8 STXBP1 SPTAN1 SLC25A22 SCN8A SCN2A SCN1A
12 west syndrome 32.3 UBA5 STXBP1 SPTAN1 SLC25A22 SCN8A SCN2A
13 developmental and epileptic encephalopathy 32.1 UBA5 STXBP1 SPTAN1 SLC25A22 SCN8A SCN1A
14 alacrima, achalasia, and mental retardation syndrome 32.0 STXBP1 SCN2A SCN1A PNKP LOC102724058 KCNQ2
15 seizure disorder 31.8 STXBP1 SPTAN1 SCN8A SCN2A SCN1A LOC102724058
16 lennox-gastaut syndrome 31.8 STXBP1 SLC25A22 SCN8A SCN2A SCN1A KCNQ2
17 epilepsy 31.7 STXBP1 SPTAN1 SLC25A22 SCN8A SCN2A SCN1A
18 early myoclonic encephalopathy 31.7 STXBP1 SLC25A22 SCN8A SCN2A SCN1A KCNQ2
19 undetermined early-onset epileptic encephalopathy 31.5 UBA5 STXBP1 SCN8A KCNB1 HCN1
20 febrile seizures 31.2 SCN8A SCN2A SCN1A LOC102724058 KCNQ2 HCN1
21 focal epilepsy 31.2 SPTAN1 SCN8A SCN2A SCN1A LOC102724058 CDKL5
22 hemimegalencephaly 31.2 SCN1A LOC102724058
23 episodic ataxia 31.1 SCN8A SCN2A SCN1A KCNQ2
24 rett syndrome 31.1 STXBP1 SCN8A SCN1A KCNB1 CDKL5
25 microcephaly 31.0 UBA5 STXBP1 SCN1A PNKP LOC102724058 GNAO1
26 benign familial infantile epilepsy 31.0 STXBP1 SCN8A SCN2A SCN1A KCNQ2 CDKL5
27 cerebellar atrophy with seizures and variable developmental delay 31.0 CYB561D2 CACNA2D2
28 seizures, benign familial infantile, 3 30.9 SCN2A KCNQ2
29 neuronal migration disorders 30.8 SCN1A LOC102724058
30 developmental and epileptic encephalopathy 12 11.8
31 developmental and epileptic encephalopathy 8 11.8
32 microcephaly, seizures, and developmental delay 11.7
33 developmental and epileptic encephalopathy 7 11.7
34 developmental and epileptic encephalopathy 15 11.7
35 developmental and epileptic encephalopathy 18 11.6
36 developmental and epileptic encephalopathy 16 11.6
37 developmental and epileptic encephalopathy 2 11.6
38 developmental and epileptic encephalopathy 11 11.6
39 developmental and epileptic encephalopathy 17 11.6
40 developmental and epileptic encephalopathy 34 11.6
41 developmental and epileptic encephalopathy 25, with amelogenesis imperfecta 11.6
42 developmental and epileptic encephalopathy 26 11.6
43 developmental and epileptic encephalopathy 21 11.6
44 developmental and epileptic encephalopathy 55 11.6
45 developmental and epileptic encephalopathy 62 11.6
46 developmental and epileptic encephalopathy 59 11.5
47 developmental and epileptic encephalopathy 61 11.5
48 developmental and epileptic encephalopathy 3 11.5
49 developmental and epileptic encephalopathy 23 11.5
50 developmental and epileptic encephalopathy 24 11.5

Graphical network of the top 20 diseases related to Early Infantile Epileptic Encephalopathy:



Diseases related to Early Infantile Epileptic Encephalopathy
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Symptoms & Phenotypes for Early Infantile Epileptic Encephalopathy

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Human phenotypes related to Early Infantile Epileptic Encephalopathy:

58 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
4 poor head control 58 31 frequent (33%) Frequent (79-30%) HP:0002421
5 hypsarrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0002521
6 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
7 eeg with burst suppression 58 31 frequent (33%) Frequent (79-30%) HP:0010851
8 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
9 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
10 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
11 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
12 dyskinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100660
13 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
14 pachygyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001302
15 infantile spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0012469
16 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
17 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
18 choreoathetosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001266
19 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
20 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
21 episodic ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002131
22 diffuse white matter abnormalities 58 31 occasional (7.5%) Occasional (29-5%) HP:0007204
23 eeg with spike-wave complexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0010850
24 delayed myelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0012448
25 diffuse cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002506
26 atonic seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0010819
27 uni- and bilateral multifocal epileptiform discharges 58 31 occasional (7.5%) Occasional (29-5%) HP:0011190
28 focal-onset seizure 31 occasional (7.5%) HP:0007359
29 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
30 febrile seizure (within the age range of 3 months to 6 years) 31 occasional (7.5%) HP:0002373
31 generalized tonic seizure 31 occasional (7.5%) HP:0010818
32 generalized non-motor (absence) seizure 31 occasional (7.5%) HP:0002121
33 generalized clonic seizure 31 occasional (7.5%) HP:0011169
34 failure to thrive 58 31 very rare (1%) Very rare (<4-1%) HP:0001508
35 precocious puberty 58 31 very rare (1%) Very rare (<4-1%) HP:0000826
36 depressed nasal bridge 58 31 very rare (1%) Very rare (<4-1%) HP:0005280
37 umbilical hernia 58 31 very rare (1%) Very rare (<4-1%) HP:0001537
38 microcephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000252
39 anteverted nares 58 31 very rare (1%) Very rare (<4-1%) HP:0000463
40 strabismus 58 31 very rare (1%) Very rare (<4-1%) HP:0000486
41 cleft palate 58 31 very rare (1%) Very rare (<4-1%) HP:0000175
42 micropenis 58 31 very rare (1%) Very rare (<4-1%) HP:0000054
43 ventricular septal defect 58 31 very rare (1%) Very rare (<4-1%) HP:0001629
44 dystonia 58 31 very rare (1%) Very rare (<4-1%) HP:0001332
45 short finger 58 31 very rare (1%) Very rare (<4-1%) HP:0009381
46 broad finger 58 31 very rare (1%) Very rare (<4-1%) HP:0001500
47 sloping forehead 58 31 very rare (1%) Very rare (<4-1%) HP:0000340
48 renal dysplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0000110
49 ureterocele 58 31 very rare (1%) Very rare (<4-1%) HP:0000070
50 absent thumbnail 58 31 very rare (1%) Very rare (<4-1%) HP:0012554

MGI Mouse Phenotypes related to Early Infantile Epileptic Encephalopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 CACNA2D2 CDKL5 GNAO1 HCN1 KCNB1 KCNH5
2 nervous system MP:0003631 9.44 CACNA2D2 CDKL5 GNAO1 HCN1 KCNB1 KCNQ2
Sources

Drugs & Therapeutics for Early Infantile Epileptic Encephalopathy

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Examining the Efficacy of tDCS in the Attenuation of Epileptic Paroxysmal Discharges and Clinical Seizures Completed NCT02960347 Phase 2, Phase 3

Search NIH Clinical Center for Early Infantile Epileptic Encephalopathy

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Genetic Tests for Early Infantile Epileptic Encephalopathy

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Genetic tests related to Early Infantile Epileptic Encephalopathy:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy with Suppression Bursts 29
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Anatomical Context for Early Infantile Epileptic Encephalopathy

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MalaCards organs/tissues related to Early Infantile Epileptic Encephalopathy:

40
Brain, Eye, Cortex, Breast, Skin, Cardiac Myocytes
Sources

Publications for Early Infantile Epileptic Encephalopathy

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Articles related to Early Infantile Epileptic Encephalopathy:

(show top 50) (show all 648)
# Title Authors PMID Year
1
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results. 61 6
29961512 2018
2
Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures. 61 6
29444904 2018
3
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy. 61 6
30109124 2018
4
A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation. 61 6
28687180 2018
5
Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes. 61 6
29264391 2017
6
Aberrant Sodium Channel Currents and Hyperexcitability of Medial Entorhinal Cortex Neurons in a Mouse Model of SCN8A Encephalopathy. 6 61
28676574 2017
7
Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching. 6 61
28387369 2017
8
Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine. 6 61
27867041 2017
9
SCN8A mutation in a child presenting with seizures and developmental delays. 61 6
27900360 2016
10
Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 61 6
27184330 2016
11
GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females. 61 6
27072799 2016
12
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. 61 6
26900580 2016
13
Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function. 6 61
27069701 2016
14
Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy. 61 6
26485252 2015
15
Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 61 6
25959266 2015
16
Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing. 61 6
25819767 2015
17
Early and effective treatment of KCNQ2 encephalopathy. 6 61
25880994 2015
18
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities. 6 61
26544041 2015
19
De novo mutations in HCN1 cause early infantile epileptic encephalopathy. 61 6
24747641 2014
20
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 61 6
23339110 2013
21
Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice. 6 61
23236174 2012
22
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. 61 6
22722545 2012
23
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. 61 6
21762454 2011
24
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. 6 61
21293276 2011
25
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. 61 6
20887364 2010
26
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. 6 61
20493457 2010
27
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 61 6
18469812 2008
28
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 6
32238909 2020
29
Genotype-phenotype correlation on 45 individuals with West syndrome. 6
31791873 2020
30
Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation. 6
31492455 2020
31
Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy. 6
31418850 2019
32
KCNQ2 related early-onset epileptic encephalopathies in Chinese children. 6
31152295 2019
33
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. 6
31422819 2019
34
Generation of three induced pluripotent stem cell lines from postmortem tissue derived following sudden death of a young patient with STXBP1 mutation. 6
31255830 2019
35
Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series. 6
31439038 2019
36
KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series. 6
31199083 2019
37
Genetic and phenotypic characteristics of SCN1A-related epilepsy in Chinese children. 6
31009440 2019
38
Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome. 6
30776697 2019
39
Data on mutations and Clinical features in SCN1A or SCN2A gene. 6
30619928 2019
40
Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability. 6
30615093 2019
41
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients. 6
31780880 2019
42
Next-generation sequencing improves treatment efficacy and reduces hospitalization in children with drug-resistant epilepsy. 6
29933521 2019
43
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome. 6
31001185 2019
44
Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patients. 6
30182498 2018
45
Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome. 6
30558019 2018
46
Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development. 6
30165711 2018
47
Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. 6
29314583 2018
48
De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy. 6
29896790 2018
49
Dravet syndrome in South African infants: Tools for an early diagnosis. 6
30321769 2018
50
Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation. 6
30174244 2018
Sources

Variations for Early Infantile Epileptic Encephalopathy

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ClinVar genetic disease variations for Early Infantile Epileptic Encephalopathy:

6 (show top 50) (show all 4797)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDKL5 NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser) SNV Pathogenic 929426 GRCh37: X:18525254-18525254
GRCh38: X:18507134-18507134
2 GNAO1 NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys) SNV Pathogenic 265350 rs886039494 GRCh37: 16:56370674-56370674
GRCh38: 16:56336762-56336762
3 SCN2A NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly) SNV Pathogenic 207028 rs796053166 GRCh37: 2:166245960-166245960
GRCh38: 2:165389450-165389450
4 STXBP1 NM_003165.4(STXBP1):c.1162C>T (p.Arg388Ter) SNV Pathogenic 6730 rs121918321 GRCh37: 9:130438134-130438134
GRCh38: 9:127675855-127675855
5 CDKL5 NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) SNV Pathogenic 11503 rs62641235 GRCh37: X:18593543-18593543
GRCh38: X:18575423-18575423
6 CDKL5 NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter) SNV Pathogenic 143783 rs62653623 GRCh37: X:18593503-18593503
GRCh38: X:18575383-18575383
7 CDKL5 NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter) SNV Pathogenic 143822 rs267608490 GRCh37: X:18602432-18602432
GRCh38: X:18584312-18584312
8 CDKL5 NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly) SNV Pathogenic 143826 rs267608500 GRCh37: X:18606097-18606097
GRCh38: X:18587977-18587977
9 CDKL5 NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter) SNV Pathogenic 143808 rs267608663 GRCh37: X:18646587-18646587
GRCh38: X:18628467-18628467
10 CDKL5 NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) SNV Pathogenic 94113 rs267606715 GRCh37: X:18602452-18602452
GRCh38: X:18584332-18584332
11 STXBP1 NM_003165.4(STXBP1):c.568C>T (p.Arg190Trp) SNV Pathogenic 207417 GRCh37: 9:130425622-130425622
GRCh38: 9:127663343-127663343
12 STXBP1 NM_003165.4(STXBP1):c.1439C>T (p.Pro480Leu) SNV Pathogenic 207432 rs796053368 GRCh37: 9:130440789-130440789
GRCh38: 9:127678510-127678510
13 STXBP1 NM_003165.4(STXBP1):c.1651C>T (p.Arg551Cys) SNV Pathogenic 207440 rs796053373 GRCh37: 9:130444788-130444788
GRCh38: 9:127682509-127682509
14 STXBP1 NM_003165.4(STXBP1):c.703C>T (p.Arg235Ter) SNV Pathogenic 207422 rs796053359 GRCh37: 9:130428484-130428484
GRCh38: 9:127666205-127666205
15 STXBP1 NM_003165.6(STXBP1):c.875G>A SNV Pathogenic 207424 rs796053361 GRCh37: 9:130430439-130430439
GRCh38: 9:127668160-127668160
16 STXBP1 NM_003165.4(STXBP1):c.364C>T (p.Arg122Ter) SNV Pathogenic 198157 rs794727792 GRCh37: 9:130423419-130423419
GRCh38: 9:127661140-127661140
17 SCN8A NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp) SNV Pathogenic 207131 rs796053228 GRCh37: 12:52200884-52200884
GRCh38: 12:51807100-51807100
18 STXBP1 NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) SNV Pathogenic 279904 rs886041246 GRCh37: 9:130438189-130438189
GRCh38: 9:127675910-127675910
19 STXBP1 NM_003165.4(STXBP1):c.1439C>T (p.Pro480Leu) SNV Pathogenic 207432 rs796053368 GRCh37: 9:130440789-130440789
GRCh38: 9:127678510-127678510
20 SCN8A NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) SNV Pathogenic 130252 rs587780455 GRCh37: 12:52200900-52200900
GRCh38: 12:51807116-51807116
21 STXBP1 NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter) SNV Pathogenic 207429 rs796053366 GRCh37: 9:130435529-130435529
GRCh38: 9:127673250-127673250
22 PNKP NM_007254.4(PNKP):c.636+1G>T SNV Pathogenic 436354 rs1247055716 GRCh37: 19:50367435-50367435
GRCh38: 19:49864178-49864178
23 SCN1A NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter) SNV Pathogenic 189844 rs794726697 GRCh37: 2:166894639-166894639
GRCh38: 2:166038129-166038129
24 STXBP1 NM_003165.4(STXBP1):c.1162C>T (p.Arg388Ter) SNV Pathogenic 6730 rs121918321 GRCh37: 9:130438134-130438134
GRCh38: 9:127675855-127675855
25 SCN1A NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His) SNV Pathogenic 93639 rs398123588 GRCh37: 2:166895946-166895946
GRCh38: 2:166039436-166039436
26 STXBP1 NM_003165.4(STXBP1):c.568C>T (p.Arg190Trp) SNV Pathogenic 207417 GRCh37: 9:130425622-130425622
GRCh38: 9:127663343-127663343
27 SCN1A NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln) SNV Pathogenic 68528 rs121917918 GRCh37: 2:166915161-166915161
GRCh38: 2:166058651-166058651
28 SCN1A NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) SNV Pathogenic 93635 rs398123585 GRCh37: 2:166900385-166900385
GRCh38: 2:166043875-166043875
29 SCN1A NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys) SNV Pathogenic 68598 rs121918788 GRCh37: 2:166894441-166894441
GRCh38: 2:166037931-166037931
30 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter) SNV Pathogenic 93649 rs398123593 GRCh37: 2:166859047-166859047
GRCh38: 2:166002537-166002537
31 STXBP1 NM_003165.6(STXBP1):c.875G>A SNV Pathogenic 207424 rs796053361 GRCh37: 9:130430439-130430439
GRCh38: 9:127668160-127668160
32 STXBP1 NM_003165.4(STXBP1):c.1216C>T (p.Arg406Cys) SNV Pathogenic 207431 rs796053367 GRCh37: 9:130438188-130438188
GRCh38: 9:127675909-127675909
33 SCN8A NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) SNV Pathogenic 156106 rs587777721 GRCh37: 12:52200120-52200120
GRCh38: 12:51806336-51806336
34 KCNQ2 NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met) SNV Pathogenic 167208 rs727503974 GRCh37: 20:62071057-62071057
GRCh38: 20:63439704-63439704
35 CDKL5 NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) SNV Pathogenic 143781 rs267608395 GRCh37: X:18622719-18622719
GRCh38: X:18604599-18604599
36 SPTAN1 NM_001130438.3(SPTAN1):c.6899_6907ACCAGCTGG[3] (p.2300_2302DQL[3]) Microsatellite Pathogenic 160028 rs587784440 GRCh37: 9:131394539-131394540
GRCh38: 9:128632260-128632261
37 SCN8A NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln) SNV Pathogenic 253297 rs796053229 GRCh37: 12:52200885-52200885
GRCh38: 12:51807101-51807101
38 KCNQ2 NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln) SNV Pathogenic 21769 rs118192235 GRCh37: 20:62044824-62044824
GRCh38: 20:63413471-63413471
39 SCN8A NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln) SNV Pathogenic 135651 GRCh37: 12:52159459-52159459
GRCh38: 12:51765675-51765675
40 NPHP3-ACAD11 , UBA5 NM_024818.4(UBA5):c.1111G>A (p.Ala371Thr) SNV Pathogenic 265745 rs114925667 GRCh37: 3:132394747-132394747
GRCh38: 3:132675903-132675903
41 STXBP1 NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter) SNV Pathogenic 207429 rs796053366 GRCh37: 9:130435529-130435529
GRCh38: 9:127673250-127673250
42 SCN2A NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) SNV Pathogenic 206981 rs796053126 GRCh37: 2:166210777-166210777
GRCh38: 2:165354267-165354267
43 STXBP1 NM_003165.4(STXBP1):c.703C>T (p.Arg235Ter) SNV Pathogenic 207422 rs796053359 GRCh37: 9:130428484-130428484
GRCh38: 9:127666205-127666205
44 overlap with 2 genes NC_000020.10:g.(?_61992422)_(62038748_?)del Deletion Pathogenic 831940 GRCh37: 20:61992422-62038748
GRCh38:
45 SCN1A NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) SNV Pathogenic 12889 rs121918624 GRCh37: 2:166909392-166909392
GRCh38: 2:166052882-166052882
46 SCN1A NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu) SNV Pathogenic 837128 GRCh37: 2:166894440-166894440
GRCh38: 2:166037930-166037930
47 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) SNV Pathogenic 167639 rs727504136 GRCh37: 2:166868765-166868765
GRCh38: 2:166012255-166012255
48 SCN8A NM_001330260.2(SCN8A):c.779T>C (p.Phe260Ser) SNV Pathogenic 253279 rs879255697 GRCh37: 12:52093426-52093426
GRCh38: 12:51699642-51699642
49 STXBP1 NM_003165.4(STXBP1):c.416C>T (p.Pro139Leu) SNV Pathogenic 207415 rs796053353 GRCh37: 9:130423471-130423471
GRCh38: 9:127661192-127661192
50 STXBP1 NM_003165.4(STXBP1):c.1651C>T (p.Arg551Cys) SNV Pathogenic 207440 rs796053373 GRCh37: 9:130444788-130444788
GRCh38: 9:127682509-127682509
Sources

Expression for Early Infantile Epileptic Encephalopathy

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

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Pathways related to Early Infantile Epileptic Encephalopathy according to KEGG:

36
# Name Kegg Source Accession
1 Retrograde endocannabinoid signaling hsa04723
2 GABAergic synapse hsa04727
3 Glutamatergic synapse hsa04724
4 Dopaminergic synapse hsa04728
5 Serotonergic synapse hsa04726

Pathways related to Early Infantile Epileptic Encephalopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Transmission across Chemical Synapses 65
Show member pathways
 12.7 STXBP1 KCNQ2 KCNH5 KCNB1 HCN1 CACNA2D2
2
Neuroscience 4
12.17 STXBP1 SCN8A SCN2A SCN1A KCNQ2 GNAO1
3
Potassium Channels 65
Show member pathways
 11.79 KCNQ2 KCNH5 KCNB1 HCN1
4
L1CAM interactions 65
Show member pathways
 11.45 SPTAN1 SCN8A SCN2A SCN1A KCNQ2
5
Phase 0 - rapid depolarisation 65
Show member pathways
 11.43 SCN8A SCN2A SCN1A CACNA2D2
6
Interaction between L1 and Ankyrins 65
10.5 SPTAN1 SCN8A SCN2A SCN1A KCNQ2
Sources

GO Terms for Early Infantile Epileptic Encephalopathy

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.27 UBA5 STXBP1 SPTAN1 SLC25A22 SCN8A SCN2A
2 axon GO:0030424 9.73 STXBP1 SCN8A SCN2A SCN1A KCNB1 HCN1
3 axon initial segment GO:0043194 9.33 SCN8A SCN1A KCNQ2
4 sodium channel complex GO:0034706 9.32 SCN2A SCN1A
5 voltage-gated sodium channel complex GO:0001518 9.13 SCN8A SCN2A SCN1A
6 node of Ranvier GO:0033268 8.92 SCN8A SCN2A SCN1A KCNQ2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.8 SCN8A SCN2A SCN1A KCNQ2 KCNB1
2 potassium ion transport GO:0006813 9.78 KCNQ2 KCNH5 KCNB1 HCN1
3 potassium ion transmembrane transport GO:0071805 9.76 KCNQ2 KCNH5 KCNB1 HCN1
4 transmembrane transport GO:0055085 9.76 SLC25A22 SCN8A SCN2A SCN1A KCNQ2 KCNH5
5 sodium ion transport GO:0006814 9.73 SCN8A SCN2A SCN1A HCN1
6 regulation of membrane potential GO:0042391 9.69 SCN1A KCNH5 HCN1
7 cation transmembrane transport GO:0098655 9.67 SCN8A SCN2A SCN1A
8 sodium ion transmembrane transport GO:0035725 9.62 SCN8A SCN2A SCN1A HCN1
9 ion transport GO:0006811 9.61 SLC25A22 SCN8A SCN2A SCN1A KCNQ2 KCNH5
10 action potential GO:0001508 9.54 SCN1A KCNB1
11 neuronal action potential GO:0019228 9.54 SCN8A SCN2A SCN1A
12 positive regulation of calcium ion-dependent exocytosis GO:0045956 9.52 STXBP1 KCNB1
13 membrane depolarization during action potential GO:0086010 9.43 SCN8A SCN2A SCN1A
14 regulation of ion transmembrane transport GO:0034765 9.23 SCN8A SCN2A SCN1A KCNQ2 KCNH5 KCNB1

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

# Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.67 KCNQ2 KCNH5 KCNB1 HCN1
2 voltage-gated potassium channel activity GO:0005249 9.62 KCNQ2 KCNH5 KCNB1 HCN1
3 cation channel activity GO:0005261 9.58 SCN8A SCN2A SCN1A
4 sodium channel activity GO:0005272 9.56 SCN8A SCN2A SCN1A HCN1
5 ion channel activity GO:0005216 9.5 SCN8A SCN2A SCN1A KCNQ2 KCNH5 KCNB1
6 voltage-gated sodium channel activity GO:0005248 9.46 SCN8A SCN2A SCN1A HCN1
7 voltage-gated ion channel activity GO:0005244 9.23 SCN8A SCN2A SCN1A KCNQ2 KCNH5 KCNB1
Sources

Sources for Early Infantile Epileptic Encephalopathy

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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