EIEE
MCID: ERL057
MIFTS: 62

Early Infantile Epileptic Encephalopathy (EIEE)

Categories: Neuronal diseases, Rare diseases
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Aliases & Classifications for Early Infantile Epileptic Encephalopathy

MalaCards integrated aliases for Early Infantile Epileptic Encephalopathy:

Name: Early Infantile Epileptic Encephalopathy 11 19 58 14 75
Early Infantile Epileptic Encephalopathy with Suppression Bursts 28 5
Early Infantile Epileptic Encephalopathy with Suppression-Bursts 58
Early Infantile Epileptic Encephalopathy with Burst-Suppression 11
Encephalopathy, Epileptic, Early Infantile 38
Ohtahara Syndrome 58
Eiee 58

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive,X-linked recessive 58

Prevelance:

1-9/100000 (Japan, United Kingdom) 58

Age Of Onset:

Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Early Infantile Epileptic Encephalopathy

GARD: 19 Early Infantile Epileptic Encephalopathy (EIEE) is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life in the form of epileptic seizures. Infants may 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). 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 genetic changes in several different genes. The cause for many cases can't be determined.

MalaCards based summary: Early Infantile Epileptic Encephalopathy, also known as early infantile epileptic encephalopathy with suppression bursts, is related to ohtahara syndrome and developmental and epileptic encephalopathy 14. An important gene associated with Early Infantile Epileptic Encephalopathy is SLC25A22 (Solute Carrier Family 25 Member 22), and among its related pathways/superpathways are Transmission across Chemical Synapses and G-Beta Gamma Signaling. Affiliated tissues include brain, cortex and eye, and related phenotypes are intellectual disability and global developmental delay

Orphanet: 58 A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.

Disease Ontology: 11 A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.

Wikipedia: 75 Ohtahara syndrome (OS), also known as early infantile epileptic encephalopathy (EIEE) is a progressive... more...

Related Diseases for Early Infantile Epileptic Encephalopathy

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 259)
# Related Disease Score Top Affiliating Genes
1 ohtahara syndrome 33.5 UBA5 STXBP1 ST3GAL3 SPTAN1 SNAP25 SLC25A22
2 developmental and epileptic encephalopathy 14 33.4 SLC25A22 SCN8A SCN2A SCN1A KCNQ2 CDKL5
3 developmental and epileptic encephalopathy 1 33.4 STXBP1 SLC25A22 SCN8A SCN1A KCNQ2 GNAO1
4 developmental and epileptic encephalopathy 7 33.2 SCN2A SCN1A KCNQ2
5 dravet syndrome 33.2 STXBP1 SLC25A22 SCN8A SCN2A SCN1A LOC102724058
6 developmental and epileptic encephalopathy 2 33.2 STXBP1 ST3GAL3 SPTAN1 SNAP25 SLC25A22 SCN8A
7 developmental and epileptic encephalopathy 13 33.2 SCN8A SCN2A SCN1A
8 developmental and epileptic encephalopathy 8 33.1 ST3GAL3 SLC25A22
9 developmental and epileptic encephalopathy 21 33.1 STXBP1 SCN8A SCN2A SCN1A KCNQ2 CDKL5
10 developmental and epileptic encephalopathy 9 33.1 STXBP1 SCN2A SCN1A KCNQ2 CDKL5
11 developmental and epileptic encephalopathy 52 32.8 SCN8A SCN1A
12 encephalopathy 32.7 STXBP1 SPTAN1 SLC25A22 SCN1A GNAO1 CDKL5
13 developmental and epileptic encephalopathy 87 32.7 STXBP1 CDKL5
14 west syndrome 32.2 UBA5 STXBP1 ST3GAL3 SPTAN1 SNAP25 SLC25A22
15 developmental and epileptic encephalopathy 32.2 UBA5 STXBP1 ST3GAL3 SPTAN1 SNAP25 SLC25A22
16 epilepsy 32.0 STXBP1 ST3GAL3 SLC25A22 SCN8A SCN2A SCN1A
17 lennox-gastaut syndrome 31.7 STXBP1 ST3GAL3 SLC25A22 SCN8A SCN2A SCN1A
18 early myoclonic encephalopathy 31.6 STXBP1 SLC25A22 SCN8A SCN2A SCN1A KCNQ2
19 autism 31.4 STXBP1 SNAP25 SCN8A SCN2A SCN1A LOC102724058
20 microcephaly 31.3 UBA5 STXBP1 SCN1A LOC102724058 HCN1 GNAO1
21 hemimegalencephaly 31.3 SCN1A LOC102724058
22 glycine encephalopathy 31.2 STXBP1 SLC25A22 KCNQ2 CDKL5
23 benign familial infantile epilepsy 31.2 STXBP1 SNAP25 SCN8A SCN2A SCN1A KCNQ2
24 benign familial neonatal epilepsy 31.2 STXBP1 SLC25A22 SCN8A SCN2A SCN1A KCNQ2
25 focal epilepsy 31.1 SPTAN1 SNAP25 SCN8A SCN2A SCN1A KCNQ2
26 epilepsy, idiopathic generalized 31.1 STXBP1 SCN8A SCN2A SCN1A KCNQ2 HCN1
27 episodic ataxia 31.1 SNAP25 SCN8A SCN2A SCN1A KCNQ2 KCNB1
28 brugada syndrome 31.1 SCN8A SCN2A SCN1A KCNQ2 KCNB1 CACNA2D2
29 febrile seizures 31.1 SCN8A SCN2A SCN1A LOC102724058 HCN1
30 rett syndrome 31.1 STXBP1 SCN8A SCN2A SCN1A EEF1A2 CDKL5
31 epilepsy, pyridoxine-dependent 30.9 STXBP1 SCN8A SCN2A SCN1A KCNQ2 CDKL5
32 cerebellar atrophy with seizures and variable developmental delay 30.9 CYB561D2 CACNA2D2
33 seizures, benign familial infantile, 3 30.9 SCN2A KCNQ2
34 neuronal migration disorders 30.8 SCN1A LOC102724058
35 autism spectrum disorder 30.7 STXBP1 SNAP25 SCN2A SCN1A HCN1
36 developmental and epileptic encephalopathy 4 11.8
37 developmental and epileptic encephalopathy 12 11.7
38 cdkl5 deficiency disorder 11.5
39 developmental and epileptic encephalopathy 18 11.5
40 scn8a-related epilepsy with encephalopathy 11.5
41 multiple congenital anomalies-hypotonia-seizures syndrome 2 11.5
42 microcephaly, seizures, and developmental delay 11.5
43 developmental and epileptic encephalopathy 15 11.5
44 developmental and epileptic encephalopathy 26 11.5
45 stxbp1 encephalopathy with epilepsy 11.4
46 developmental and epileptic encephalopathy 3 11.4
47 developmental and epileptic encephalopathy 23 11.4
48 developmental and epileptic encephalopathy 39 with leukodystrophy 11.4
49 developmental and epileptic encephalopathy 5 11.4
50 developmental and epileptic encephalopathy 11 11.4

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



Diseases related to Early Infantile Epileptic Encephalopathy

Symptoms & Phenotypes for Early Infantile Epileptic Encephalopathy

Human phenotypes related to Early Infantile Epileptic Encephalopathy:

58 30 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
3 sleep disturbance 58 30 Frequent (33%) Frequent (79-30%)
HP:0002360
4 poor head control 58 30 Frequent (33%) Frequent (79-30%)
HP:0002421
5 hypsarrhythmia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002521
6 infantile muscular hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008947
7 eeg with burst suppression 58 30 Frequent (33%) Frequent (79-30%)
HP:0010851
8 spasticity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001257
9 tremor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001337
10 developmental regression 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002376
11 self-injurious behavior 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100716
12 dyskinesia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100660
13 myoclonus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001336
14 pachygyria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001302
15 infantile spasms 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012469
16 cerebellar atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001272
17 bilateral tonic-clonic seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002069
18 choreoathetosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001266
19 autistic behavior 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000729
20 hyperactivity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000752
21 hypoplasia of the corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002079
22 episodic ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002131
23 delayed myelination 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012448
24 diffuse white matter abnormalities 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007204
25 eeg with spike-wave complexes 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010850
26 generalized non-motor (absence) seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002121
27 diffuse cerebral atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002506
28 atonic seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010819
29 uni- and bilateral multifocal epileptiform discharges 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011190
30 focal-onset seizure 30 Occasional (7.5%) HP:0007359
31 febrile seizure (within the age range of 3 months to 6 years) 30 Occasional (7.5%) HP:0002373
32 generalized tonic seizure 30 Occasional (7.5%) HP:0010818
33 generalized clonic seizure 30 Occasional (7.5%) HP:0011169
34 failure to thrive 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001508
35 precocious puberty 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000826
36 depressed nasal bridge 58 30 Very rare (1%) Very rare (<4-1%)
HP:0005280
37 umbilical hernia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001537
38 microcephaly 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000252
39 anteverted nares 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000463
40 strabismus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000486
41 cleft palate 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000175
42 micropenis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000054
43 ventricular septal defect 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001629
44 dystonia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001332
45 short finger 58 30 Very rare (1%) Very rare (<4-1%)
HP:0009381
46 broad finger 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001500
47 sloping forehead 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000340
48 renal dysplasia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000110
49 ureterocele 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000070
50 absent thumbnail 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012554

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 CACNA2D2 CYB561D2 EEF1A2 GNAO1 HCN1 ITPA
2 no effect GR00402-S-2 10.17 CACNA2D2 CDKL5 CYB561D2 EEF1A2 GNAO1 HCN1

MGI Mouse Phenotypes related to Early Infantile Epileptic Encephalopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.07 CACNA2D2 CDKL5 EEF1A2 GNAO1 HCN1 KCNB1
2 growth/size/body region MP:0005378 9.97 CACNA2D2 EEF1A2 GNAO1 HCN1 ITPA KCNB1
3 behavior/neurological MP:0005386 9.8 CACNA2D2 CDKL5 EEF1A2 GNAO1 HCN1 ITPA
4 respiratory system MP:0005388 9.23 CACNA2D2 HCN1 ITPA KCNQ2 SCN1A SCN2A

Drugs & Therapeutics for Early Infantile Epileptic Encephalopathy

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
2 Genetics of Epilepsy and Related Disorders Recruiting NCT01858285

Search NIH Clinical Center for Early Infantile Epileptic Encephalopathy

Genetic Tests for Early Infantile Epileptic Encephalopathy

Genetic tests related to Early Infantile Epileptic Encephalopathy:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy with Suppression Bursts 28

Anatomical Context for Early Infantile Epileptic Encephalopathy

Organs/tissues related to Early Infantile Epileptic Encephalopathy:

MalaCards : Brain, Cortex, Eye, Breast, Heart

Publications for Early Infantile Epileptic Encephalopathy

Articles related to Early Infantile Epileptic Encephalopathy:

(show top 50) (show all 737)
# Title Authors PMID Year
1
Novel and de novo mutations in pediatric refractory epilepsy. 62 5
30185235 2018
2
Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes. 62 5
29264391 2017
3
Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching. 62 5
28387369 2017
4
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. 62 5
28133863 2017
5
SCN8A Epileptic Encephalopathy: Detection of Fetal Seizures Guides Multidisciplinary Approach to Diagnosis and Treatment. 62 5
27659738 2016
6
Autosomal dominant SCN8A mutation with an unusually mild phenotype. 62 5
27210545 2016
7
Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy. 62 5
26918652 2016
8
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 62 5
26865513 2016
9
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. 62 5
26900580 2016
10
Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function. 62 5
27069701 2016
11
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. 62 5
25966631 2016
12
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. 62 5
26514728 2015
13
Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 62 5
25959266 2015
14
Early and effective treatment of KCNQ2 encephalopathy. 62 5
25880994 2015
15
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities. 62 5
26544041 2015
16
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy. 62 5
26029160 2015
17
De novo mutations in HCN1 cause early infantile epileptic encephalopathy. 62 5
24747641 2014
18
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A. 62 5
24375629 2014
19
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 62 5
23621294 2013
20
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. 62 5
23409955 2013
21
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. 62 5
22722545 2012
22
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. 62 5
22926866 2012
23
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. 62 5
20887364 2010
24
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 62 5
18469812 2008
25
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. 5
33299146 2021
26
A novel de novo SPTAN1 nonsense variant causes hereditary motor neuropathy in a Chinese family. 5
33578420 2021
27
De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder. 5
33206935 2020
28
Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders. 5
32651551 2020
29
Alterations of functional connectivity density in a Chinese family with a mild phenotype associated with a novel inherited variant of SCN8A. 5
32920374 2020
30
Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery? 5
32538476 2020
31
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
32
A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients. 5
32581296 2020
33
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing. 5
31618753 2020
34
Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy. 5
32179837 2020
35
A single-center, retrospective analysis of genotype-phenotype correlations in children with Dravet syndrome. 5
31864146 2020
36
Clinical Utility of Exome Sequencing and Reinterpreting Genetic Test Results in Children and Adults With Epilepsy. 5
33391346 2020
37
A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9. 5
31584066 2020
38
Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy. 5
31487502 2019
39
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. 5
31422819 2019
40
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy. 5
31332438 2019
41
KCNQ2 related early-onset epileptic encephalopathies in Chinese children. 5
31152295 2019
42
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. 5
30842647 2019
43
Generation of three induced pluripotent stem cell lines from postmortem tissue derived following sudden death of a young patient with STXBP1 mutation. 5
31255830 2019
44
Epileptic Encephalopathy In A Patient With A Novel Variant In The Kv7.2 S2 Transmembrane Segment: Clinical, Genetic, and Functional Features. 5
31295832 2019
45
KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series. 5
31199083 2019
46
The spectrum of intermediate SCN8A-related epilepsy. 5
30968951 2019
47
The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield. 5
30951195 2019
48
Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype. 5
30868114 2019
49
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. 5
30682224 2019
50
Data on mutations and Clinical features in SCN1A or SCN2A gene. 5
30619928 2019

Variations for Early Infantile Epileptic Encephalopathy

ClinVar genetic disease variations for Early Infantile Epileptic Encephalopathy:

5 (show top 50) (show all 8257)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN1A, LOC102724058 NM_001165963.4(SCN1A):c.4282G>T (p.Val1428Phe) SNV Pathogenic
238603 rs878854263 GRCh37: 2:166858984-166858984
GRCh38: 2:166002474-166002474
2 SCN1A, LOC102724058 NM_001165963.4(SCN1A):c.3705+5G>A SNV Pathogenic
408931 rs1060502189 GRCh37: 2:166870249-166870249
GRCh38: 2:166013739-166013739
3 KCNQ2 NM_172107.4(KCNQ2):c.1388_1389del (p.Val463fs) MICROSAT Pathogenic
242008 rs878855236 GRCh37: 20:62046392-62046393
GRCh38: 20:63415039-63415040
4 CACNA2D2 NM_006030.4(CACNA2D2):c.485_486del (p.Tyr161_Tyr162insTer) DEL Pathogenic
411003 rs1060503108 GRCh37: 3:50425023-50425024
GRCh38: 3:50387592-50387593
5 SCN1A NM_001165963.4(SCN1A):c.312del (p.Thr105fs) DEL Pathogenic
408929 rs1060502187 GRCh37: 2:166915151-166915151
GRCh38: 2:166058641-166058641
6 SCN1A, LOC102724058 NM_001165963.4(SCN1A):c.3822T>G (p.Tyr1274Ter) SNV Pathogenic
408930 rs1060502188 GRCh37: 2:166868676-166868676
GRCh38: 2:166012166-166012166
7 SCN1A NM_001165963.4(SCN1A):c.938_941del (p.Asp313fs) DEL Pathogenic
461285 rs1553549483 GRCh37: 2:166908252-166908255
GRCh38: 2:166051742-166051745
8 SCN1A NM_001165963.4(SCN1A):c.454dup (p.Asp152fs) DUP Pathogenic
461273 rs1553552319 GRCh37: 2:166912939-166912940
GRCh38: 2:166056429-166056430
9 SCN1A, LOC102724058 NM_001165963.4(SCN1A):c.3082del (p.Arg1028fs) DEL Pathogenic
461260 rs1553540389 GRCh37: 2:166892905-166892905
GRCh38: 2:166036395-166036395
10 SCN1A, LOC102724058 NM_001165963.4(SCN1A):c.4061G>T (p.Cys1354Phe) SNV Pathogenic
408922 rs1057521537 GRCh37: 2:166859205-166859205
GRCh38: 2:166002695-166002695
11 SCN1A NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs) DEL Pathogenic
461250 rs1553543215 GRCh37: 2:166897805-166897806
GRCh38: 2:166041295-166041296
12 SCN1A, LOC102724058 NM_001165963.4(SCN1A):c.3431_3432del (p.Lys1144fs) DEL Pathogenic
461263 rs1553534296 GRCh37: 2:166872235-166872236
GRCh38: 2:166015725-166015726
13 overlap with 6 genes NC_000002.12:g.(?_165874735)_(166311776_?)del DEL Pathogenic
471073 GRCh37: 2:166731245-167168286
GRCh38: 2:165874735-166311776
14 SCN1A NM_001165963.4(SCN1A):c.2522C>G (p.Thr841Arg) SNV Pathogenic
461252 rs750901301 GRCh37: 2:166896000-166896000
GRCh38: 2:166039490-166039490
15 SCN1A NM_001165963.4(SCN1A):c.1511_1515del (p.Arg504fs) MICROSAT Pathogenic
461242 rs1553545660 GRCh37: 2:166901700-166901704
GRCh38: 2:166045190-166045194
16 SCN1A NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter) SNV Pathogenic
189892 rs794726736 GRCh37: 2:166900484-166900484
GRCh38: 2:166043974-166043974
17 SCN1A NM_001165963.4(SCN1A):c.1931_1939delinsA (p.Thr644fs) INDEL Pathogenic
461246 rs1553544579 GRCh37: 2:166900283-166900291
GRCh38: 2:166043773-166043781
18 SCN1A NM_001165963.4(SCN1A):c.2565_2568dup (p.Val857fs) DUP Pathogenic
461253 rs1553542199 GRCh37: 2:166895953-166895954
GRCh38: 2:166039443-166039444
19 SCN1A NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) SNV Pathogenic
93635 rs398123585 GRCh37: 2:166900385-166900385
GRCh38: 2:166043875-166043875
20 SCN1A, LOC102724058 NM_001165963.4(SCN1A):c.4109C>T (p.Ala1370Val) SNV Pathogenic
461269 rs1553525210 GRCh37: 2:166859157-166859157
GRCh38: 2:166002647-166002647
21 SCN1A, LOC102724058 NM_001165963.4(SCN1A):c.4462del (p.Gln1488fs) DEL Pathogenic
461272 rs1553522321 GRCh37: 2:166854562-166854562
GRCh38: 2:165998052-165998052
22 KCNQ2 NC_000020.11:g.(?_63406624)_(63439728_?)del DEL Pathogenic
461211 GRCh37:
GRCh38: 20:63406624-63439728
23 CDKL5 NM_001323289.2(CDKL5):c.751delinsTC (p.Ala251fs) INDEL Pathogenic
523629 rs1555951141 GRCh37: X:18613474-18613474
GRCh38: X:18595354-18595354
24 SCN1A NM_001165963.4(SCN1A):c.1958T>A (p.Leu653Ter) SNV Pathogenic
530404 rs1553544559 GRCh37: 2:166900264-166900264
GRCh38: 2:166043754-166043754
25 KCNQ2 NM_172107.4(KCNQ2):c.439del (p.Ala147fs) DEL Pathogenic
530406 rs1555873981 GRCh37: 20:62076666-62076666
GRCh38: 20:63445313-63445313
26 KCNQ2 NM_172107.4(KCNQ2):c.687del (p.Ser229fs) DEL Pathogenic
530407 rs1555873656 GRCh37: 20:62076015-62076015
GRCh38: 20:63444662-63444662
27 overlap with 12 genes NC_000002.12:g.(?_165090130)_(166228992_?)del DEL Pathogenic
530654 GRCh37: 2:165946640-167085502
GRCh38: 2:165090130-166228992
28 KCNQ2 NC_000020.11:g.(?_63431320)_(63433923_?)del DEL Pathogenic
530656 GRCh37: 20:62062673-62065276
GRCh38: 20:63431320-63433923
29 SCN1A NM_001165963.4(SCN1A):c.1518_1519del (p.Lys507fs) DEL Pathogenic
569861 rs1559220874 GRCh37: 2:166901696-166901697
GRCh38: 2:166045186-166045187
30 CACNA2D2 NM_006030.4(CACNA2D2):c.1956_1960del (p.Asn652fs) DEL Pathogenic
570589 rs1559884460 GRCh37: 3:50412192-50412196
GRCh38: 3:50374761-50374765
31 KCNQ2 NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys) SNV Pathogenic
205898 rs118192218 GRCh37: 20:62065223-62065223
GRCh38: 20:63433870-63433870
32 SCN1A NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys) SNV Pathogenic
68520 rs121917964 GRCh37: 2:166929881-166929881
GRCh38: 2:166073371-166073371
33 SCN1A NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter) SNV Pathogenic
189941 rs794726778 GRCh37: 2:166900388-166900388
GRCh38: 2:166043878-166043878
34 SCN1A NM_001165963.4(SCN1A):c.1850_1851dup (p.Arg618fs) MICROSAT Pathogenic
577287 rs1559216338 GRCh37: 2:166900370-166900371
GRCh38: 2:166043860-166043861
35 GNAO1 NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) SNV Pathogenic
287466 rs886041715 GRCh37: 16:56226265-56226265
GRCh38: 16:56192353-56192353
36 SCN1A NM_001165963.4(SCN1A):c.655_964+402del DEL Pathogenic
579103 GRCh37: 2:166907827-166909401
GRCh38: 2:166051317-166052891
37 KCNQ2 NM_172107.4(KCNQ2):c.780_781dup (p.Phe261fs) DUP Pathogenic
580204 rs1568932480 GRCh37: 20:62073793-62073794
GRCh38: 20:63442440-63442441
38 SCN1A, LOC102724058 NM_001165963.4(SCN1A):c.3880-1G>T SNV Pathogenic
580764 rs1559140855 GRCh37: 2:166866352-166866352
GRCh38: 2:166009842-166009842
39 SCN1A, LOC102724058 NM_001165963.4(SCN1A):c.3880-2A>G SNV Pathogenic
189985 rs794726816 GRCh37: 2:166866353-166866353
GRCh38: 2:166009843-166009843
40 SCN1A, LOC102724058 NM_001165963.4(SCN1A):c.4541T>G (p.Leu1514Ter) SNV Pathogenic
582048 rs121918764 GRCh37: 2:166852563-166852563
GRCh38: 2:165996053-165996053
41 SCN1A NM_001165963.4(SCN1A):c.1306G>T (p.Glu436Ter) SNV Pathogenic
582155 rs1553546763 GRCh37: 2:166903351-166903351
GRCh38: 2:166046841-166046841
42 SCN1A, LOC102724058 NM_001165963.4(SCN1A):c.3997del (p.Gly1332_Met1333insTer) DEL Pathogenic
530413 rs1553529426 GRCh37: 2:166866234-166866234
GRCh38: 2:166009724-166009724
43 SCN1A, LOC102724058 NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys) SNV Pathogenic
68660 rs121918813 GRCh37: 2:166848402-166848402
GRCh38: 2:165991892-165991892
44 SCN1A NM_001165963.4(SCN1A):c.295_301del (p.Ile99fs) DEL Pathogenic
641010 rs1574302195 GRCh37: 2:166915162-166915168
GRCh38: 2:166058652-166058658
45 SCN1A NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe) SNV Pathogenic
12890 rs121918625 GRCh37: 2:166893031-166893031
GRCh38: 2:166036521-166036521
46 KCNQ2 and overlap with 1 gene(s) NC_000020.11:g.(?_63406624)_(63472483_?)del DEL Pathogenic
641559 GRCh37: 20:62037977-62103836
GRCh38: 20:63406624-63472483
47 overlap with 4 genes NC_000020.11:g.(?_63472148)_(63528152_?)del DEL Pathogenic
642634 GRCh37: 20:62103501-62159505
GRCh38: 20:63472148-63528152
48 SCN1A, LOC102724058 NM_001165963.4(SCN1A):c.3229_3262dup (p.Thr1088fs) DUP Pathogenic
642669 rs1574169179 GRCh37: 2:166892724-166892725
GRCh38: 2:166036214-166036215
49 SCN1A, LOC102724058 NM_001165963.4(SCN1A):c.4177_4180delinsTG (p.His1393fs) INDEL Pathogenic
643756 rs1574005235 GRCh37: 2:166859086-166859089
GRCh38: 2:166002576-166002579
50 SCN1A NM_001165963.4(SCN1A):c.811_815dup (p.Asn272fs) DUP Pathogenic
643783 rs1574265144 GRCh37: 2:166908377-166908378
GRCh38: 2:166051867-166051868

Expression for Early Infantile Epileptic Encephalopathy

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

Pathways for Early Infantile Epileptic Encephalopathy

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 CACNA2D2 HCN1 KCNB1 KCNH5 KCNQ2 SNAP25
2
Show member pathways
12.42 SCN8A SCN2A SCN1A GNAO1 CACNA2D2
3
Show member pathways
12.4 SCN8A SCN2A SCN1A CACNA2D2
4
Show member pathways
12.24 STXBP1 SNAP25 KCNB1 CACNA2D2
5 12.23 STXBP1 SNAP25 SCN8A SCN2A SCN1A KCNQ2
6
Show member pathways
12 SPTAN1 SCN8A SCN2A SCN1A KCNQ2
7
Show member pathways
11.91 KCNQ2 KCNH5 KCNB1 HCN1
8 11.09 SCN8A SCN2A SCN1A CACNA2D2
9 10.86 STXBP1 SCN1A
10 10.85 SPTAN1 SCN8A SCN2A SCN1A KCNQ2
11 10.78 STXBP1 SCN8A SCN2A SCN1A GNAO1 CDKL5
12 10.41 STXBP1 SNAP25

GO Terms for Early Infantile Epileptic Encephalopathy

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

# Name GO ID Score Top Affiliating Genes
1 glutamatergic synapse GO:0098978 10.02 STXBP1 SNAP25 SCN2A HCN1 CDKL5
2 axon GO:0030424 9.77 STXBP1 SNAP25 SCN8A SCN2A SCN1A KCNB1
3 axon initial segment GO:0043194 9.73 SCN8A SCN1A KCNQ2
4 voltage-gated sodium channel complex GO:0001518 9.63 SCN1A SCN2A SCN8A
5 sodium channel complex GO:0034706 9.5 SCN2A SCN1A
6 node of Ranvier GO:0033268 9.23 SCN8A SCN2A SCN1A KCNQ2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 sodium ion transmembrane transport GO:0035725 10.06 SCN8A SCN2A SCN1A HCN1
2 potassium ion transmembrane transport GO:0071805 10.02 HCN1 KCNB1 KCNH5 KCNQ2 SNAP25
3 sodium ion transport GO:0006814 9.95 SCN8A SCN2A SCN1A HCN1
4 membrane depolarization during action potential GO:0086010 9.85 SCN8A SCN2A SCN1A
5 transmembrane transport GO:0055085 9.85 SLC25A22 SCN8A SCN2A SCN1A KCNQ2 KCNH5
6 monoatomic ion transmembrane transport GO:0034220 9.81 SCN8A SCN2A SCN1A KCNQ2
7 neuronal action potential GO:0019228 9.8 SCN8A SCN2A SCN1A HCN1
8 potassium ion transport GO:0006813 9.73 KCNQ2 KCNH5 KCNB1 HCN1
9 monoatomic cation transmembrane transport GO:0098655 9.67 SCN8A SCN2A SCN1A
10 presynaptic dense core vesicle exocytosis GO:0099525 9.65 STXBP1 SNAP25
11 monoatomic ion transport GO:0006811 9.65 CACNA2D2 HCN1 KCNB1 KCNH5 KCNQ2 SCN1A
12 regulation of monoatomic ion transmembrane transport GO:0034765 9.5 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 voltage-gated sodium channel activity GO:0005248 9.92 SCN8A SCN2A SCN1A HCN1
2 voltage-gated potassium channel activity GO:0005249 9.85 HCN1 KCNB1 KCNH5 KCNQ2 SNAP25
3 SNARE binding GO:0000149 9.83 STXBP1 SNAP25 KCNB1
4 potassium channel activity GO:0005267 9.77 KCNQ2 KCNH5 KCNB1 HCN1
5 monoatomic cation channel activity GO:0005261 9.58 SCN8A SCN2A SCN1A
6 sodium channel activity GO:0005272 9.56 SCN8A SCN2A SCN1A HCN1
7 monoatomic ion channel activity GO:0005216 9.5 SCN8A SCN2A SCN1A KCNQ2 KCNH5 KCNB1
8 voltage-gated monoatomic ion channel activity GO:0005244 9.32 SCN8A SCN2A SCN1A KCNQ2 KCNH5 KCNB1

Sources for Early Infantile Epileptic Encephalopathy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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