DEE3
MCID: DVL034
MIFTS: 44

Developmental and Epileptic Encephalopathy 3 (DEE3)

Categories: Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Developmental and Epileptic Encephalopathy 3

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 3:

Name: Developmental and Epileptic Encephalopathy 3 57 12 6
Epileptic Encephalopathy, Early Infantile, 3 57 73 13 6
Early Infantile Epileptic Encephalopathy 3 12 15
Eiee3 57 73
Epileptic Encephalopathy, Early Infantile, 3; Eiee3 57
Encephalopathy, Epileptic, Early Infantile, Type 3 39
Neonatal Epilepsy with Suppression-Burst Pattern 73
Early Myoclonic Encephalopathy 73
Dee3 57
Eme 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
early death
severe phenotype
onset in first hours to days of life


HPO:

31
developmental and epileptic encephalopathy 3:
Inheritance autosomal recessive inheritance
Onset and clinical course death in childhood


Classifications:



External Ids:

Disease Ontology 12 DOID:0080440
OMIM® 57 609304
OMIM Phenotypic Series 57 PS308350
MedGen 41 C0270855

Summaries for Developmental and Epileptic Encephalopathy 3

OMIM® : 57 Developmental and epileptic encephalopathy-3 (DEE3) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first weeks to months of life. The prognosis is poor, and affected children either may die within 1 to 2 years after birth or survive in a persistent vegetative state. The EEG pattern often shows a suppression-burst pattern with high-voltage bursts of slow waves mixed with multifocal spikes alternating with isoelectric suppression phases; these features are reminiscent of a clinical diagnosis of Ohtahara syndrome. Some patients may have hypsarrhythmia on EEG, consistent with a clinical diagnosis of West syndrome (summary by Molinari et al., 2005, Molinari et al., 2009). For a discussion of genetic heterogeneity of DEE, see 308350. (609304) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 3, also known as epileptic encephalopathy, early infantile, 3, is related to early myoclonic encephalopathy and glycine encephalopathy. An important gene associated with Developmental and Epileptic Encephalopathy 3 is SLC25A22 (Solute Carrier Family 25 Member 22), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and NRF2 pathway. Related phenotypes are spasticity and neonatal hypotonia

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has material basis in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 3: A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Epileptic encephalopathy early infantile type 3 is characterized by a very early onset, erratic and fragmentary myoclonus, massive myoclonus, partial motor seizures and late tonic spasms. The prognosis is poor, with no effective treatment, and children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state.

Related Diseases for Developmental and Epileptic Encephalopathy 3

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 57 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 66
Developmental and Epileptic Encephalopathy 67 Developmental and Epileptic Encephalopathy 68
Developmental and Epileptic Encephalopathy 69 Developmental and Epileptic Encephalopathy 70
Developmental and Epileptic Encephalopathy 71 Developmental and Epileptic Encephalopathy 72
Developmental and Epileptic Encephalopathy 73 Developmental and Epileptic Encephalopathy 74
Developmental and Epileptic Encephalopathy 75 Developmental and Epileptic Encephalopathy 76
Developmental and Epileptic Encephalopathy 78 Developmental and Epileptic Encephalopathy 79
Developmental and Epileptic Encephalopathy 80 Developmental and Epileptic Encephalopathy 81
Developmental and Epileptic Encephalopathy 82 Developmental and Epileptic Encephalopathy 83
Developmental and Epileptic Encephalopathy 84 Developmental and Epileptic Encephalopathy 86
Developmental and Epileptic Encephalopathy 87 Developmental and Epileptic Encephalopathy 88
Developmental and Epileptic Encephalopathy 89

Diseases related to Developmental and Epileptic Encephalopathy 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 early myoclonic encephalopathy 32.5 SLC25A22 KCND2
2 glycine encephalopathy 30.3 SLC6A9 SLC25A22
3 developmental and epileptic encephalopathy 4 11.2
4 developmental and epileptic encephalopathy 30 11.1
5 encephalopathy, ethylmalonic 10.9
6 encephalopathy 10.7
7 myoclonus 10.6
8 early infantile epileptic encephalopathy 10.4
9 west syndrome 10.4
10 seizure disorder 10.4
11 ohtahara syndrome 10.3
12 propionic acidemia 10.3
13 microcephaly 10.2
14 respiratory failure 10.1
15 nephrotic syndrome 10.1
16 hypotonia 10.1
17 fibrosis of extraocular muscles, congenital, 1 10.0
18 pulmonary fibrosis, idiopathic 10.0
19 diarrhea 10.0
20 interstitial lung disease 10.0
21 pulmonary fibrosis 10.0
22 lung disease 10.0
23 biotinidase deficiency 10.0
24 spinal muscular atrophy, type i 10.0
25 ocular motor apraxia 10.0
26 senior-loken syndrome 1 10.0
27 schinzel-giedion midface retraction syndrome 10.0
28 multiple congenital anomalies-hypotonia-seizures syndrome 2 10.0
29 dravet syndrome 10.0
30 pontocerebellar hypoplasia, type 6 10.0
31 epileptic encephalopathy, infantile or early childhood, 2 10.0
32 lennox-gastaut syndrome 10.0
33 metabolic acidosis 10.0
34 pontocerebellar hypoplasia 10.0
35 cerebellar hypoplasia 10.0
36 developmental and epileptic encephalopathy 10.0
37 disseminated intravascular coagulation 10.0
38 spinal muscular atrophy 10.0
39 nephronophthisis 10.0
40 focal segmental glomerulosclerosis 10.0
41 status epilepticus 10.0
42 epilepsy 10.0
43 focal epilepsy 10.0
44 familial nephrotic syndrome 10.0
45 peripheral nervous system disease 10.0
46 muscular atrophy 10.0
47 neuropathy 10.0
48 stxbp1 encephalopathy with epilepsy 10.0
49 cerebral atrophy 10.0
50 febrile seizures 10.0

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 3:



Diseases related to Developmental and Epileptic Encephalopathy 3

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 3

Human phenotypes related to Developmental and Epileptic Encephalopathy 3:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 neonatal hypotonia 31 HP:0001319
3 abnormality of visual evoked potentials 31 HP:0000649
4 cerebral atrophy 31 HP:0002059
5 epileptic encephalopathy 31 HP:0200134
6 delayed myelination 31 HP:0012448
7 progressive microcephaly 31 HP:0000253
8 generalized myoclonic seizure 31 HP:0002123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
cerebral atrophy
delayed myelination
myoclonic seizures, intractable
clonic seizures
more
Head And Neck Head:
microcephaly, progressive

Muscle Soft Tissue:
hypotonia, neonatal

Clinical features from OMIM®:

609304 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 3

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 3

Genetic Tests for Developmental and Epileptic Encephalopathy 3

Anatomical Context for Developmental and Epileptic Encephalopathy 3

Publications for Developmental and Epileptic Encephalopathy 3

Articles related to Developmental and Epileptic Encephalopathy 3:

(show top 50) (show all 98)
# Title Authors PMID Year
1
SLC25A22 is a novel gene for migrating partial seizures in infancy. 6 57
24596948 2013
2
Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. 6 57
19780765 2009
3
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. 6 57
15592994 2005
4
Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience. 61
32593896 2020
5
A term neonate with early myoclonic encephalopathy caused by RARS2 gene variants: a case report. 61
33209735 2020
6
Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation. 61
31492455 2020
7
Genetics of neonatal onset epilepsies: An overview. 61
31097300 2020
8
Neonatal Developmental and Epileptic Encephalopathies. 61
31813518 2019
9
Successful treatment of intractable life-threatening seizures with perampanel in the first case of early myoclonic encephalopathy with a novel de novo SCN1A mutation. 61
31176277 2019
10
A case of early myoclonic encephalopathy with intractable seizures successfully treated with high-dose phenobarbital. 61
31027651 2019
11
Ketogenic diet, a potentially valuable therapeutic option for the management of refractory epilepsy in classical neonatal nonketotic hyperglycinemia: a case report. 61
30108280 2019
12
Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS). 61
30684875 2019
13
[Genetically determined epileptic encephalopathies]. 61
31603843 2019
14
Genetics of neonatal-onset epilepsies. 61
31324323 2019
15
Generalized epilepsies. 61
31307608 2019
16
Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy. 61
30001564 2018
17
KCNT1-Related Epilepsy 61
30234941 2018
18
Benign and severe early-life seizures: a round in the first year of life. 61
29764460 2018
19
Ketogenic Diet Therapy in Infants: Efficacy and Tolerability. 61
29610033 2018
20
A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation. 61
28687180 2018
21
A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy. 61
27789573 2017
22
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. 61
28133863 2017
23
Current understanding and neurobiology of epileptic encephalopathies. 61
26992889 2016
24
Vigabatrin administration for infants and young children with intractable generalized epilepsy. 61
30010934 2016
25
Amenable Treatable Severe Pediatric Epilepsies. 61
27544473 2016
26
The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies. 61
27544470 2016
27
Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy. 61
26271793 2016
28
A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy. 61
26371980 2016
29
Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1. 61
25779878 2015
30
De novo mutations in SIK1 cause a spectrum of developmental epilepsies. 61
25839329 2015
31
High-frequency EEG activity in epileptic encephalopathy with suppression-burst. 61
24796721 2015
32
Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22. 61
25033742 2014
33
PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. 61
24706016 2014
34
Successful treatment of early myoclonic encephalopathy using lidocaine and carbamazepine. 61
23886871 2013
35
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. 61
23409955 2013
36
Metabolic causes of epileptic encephalopathy. 61
23762547 2013
37
Neonatal seizures. 61
23622196 2013
38
[The syndrome of malignant migrating partial seizures in infancy or Coppola-Dulac syndrome (19 cases)]. 61
23612406 2013
39
[The clinical and electroencephalographic characteristics of early myoclonic encephalopathy]. 61
23324144 2012
40
Ohtahara syndrome or early-onset West syndrome? A case with overlapping features and favorable response to vigabatrin. 61
22766350 2012
41
Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy. 61
23044011 2012
42
Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia. 61
22261077 2012
43
Ohtahara syndrome with emphasis on recent genetic discovery. 61
21967765 2012
44
Dextromethorphan in the treatment of early myoclonic encephalopathy evolving into migrating partial seizures in infancy. 61
22656400 2012
45
Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy. 61
21507589 2012
46
Epileptic encephalopathies: an overview. 61
23213494 2012
47
Disorders of amino acid metabolism associated with epilepsy. 61
21803516 2011
48
Epilepsies and epileptic syndromes starting in the neonatal period. 61
21067877 2011
49
Electroclinical characterization and classification of symptomatic epilepsies with very early onset by multiple correspondence analysis. 61
20696553 2010
50
Nonketotic hyperglycinemia: proposal of a diagnostic and treatment strategy. 61
20691948 2010

Variations for Developmental and Epileptic Encephalopathy 3

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 3:

6 (show top 50) (show all 604)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC25A22 NM_001191061.2(SLC25A22):c.418C>T (p.Gln140Ter) SNV Pathogenic 212198 rs797045969 11:792722-792722 11:792722-792722
2 SLC25A22 NM_001191061.2(SLC25A22):c.328G>C (p.Gly110Arg) SNV Pathogenic 120308 rs587777243 11:792954-792954 11:792954-792954
3 SLC25A22 NM_001191061.2(SLC25A22):c.706G>T (p.Gly236Trp) SNV Pathogenic 1776 rs121918335 11:792340-792340 11:792340-792340
4 SLC25A22 NM_001191061.2(SLC25A22):c.811_812TG[1] (p.Ala272fs) Microsatellite Pathogenic 618891 11:792146-792147 11:792146-792147
5 SLC25A22 NM_001191061.2(SLC25A22):c.818G>A (p.Arg273Lys) SNV Pathogenic 626258 rs1195505218 11:792142-792142 11:792142-792142
6 KCND2 NM_012281.3(KCND2):c.1210G>A (p.Val404Met) SNV Pathogenic 144007 rs587777631 7:120373051-120373051 7:120732997-120732997
7 SLC25A22 NM_001191061.2(SLC25A22):c.754C>T (p.Arg252Trp) SNV Likely pathogenic 569303 rs1388811021 11:792206-792206 11:792206-792206
8 SLC25A22 NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu) SNV Likely pathogenic 1775 rs121918334 11:792429-792429 11:792429-792429
9 SLC25A22 NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter) SNV Likely pathogenic 436749 rs1554965669 11:792888-792888 11:792888-792888
10 JMJD1C NM_032776.3(JMJD1C):c.6527G>A (p.Ser2176Asn) SNV Uncertain significance 460268 rs1554829957 10:64948971-64948971 10:63189211-63189211
11 SLC25A22 NM_001191061.2(SLC25A22):c.-72T>A SNV Uncertain significance 306271 rs533586625 11:795078-795078 11:795078-795078
12 SLC25A22 NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) SNV Uncertain significance 139140 rs147840220 11:792555-792555 11:792555-792555
13 SLC25A22 NM_001191061.2(SLC25A22):c.666G>A (p.Lys222=) SNV Uncertain significance 306263 rs886048695 11:792380-792380 11:792380-792380
14 SLC25A22 NM_001191061.2(SLC25A22):c.*693G>C SNV Uncertain significance 306249 rs375467519 11:791222-791222 11:791222-791222
15 SLC25A22 NM_001191061.2(SLC25A22):c.401C>T (p.Ala134Val) SNV Uncertain significance 306266 rs886048697 11:792881-792881 11:792881-792881
16 SLC25A22 NM_001191061.2(SLC25A22):c.-163-934C>T SNV Uncertain significance 306281 rs866357313 11:796103-796103 11:796103-796103
17 SLC25A22 NM_001191061.2(SLC25A22):c.*1057C>A SNV Uncertain significance 306235 rs375049082 11:790858-790858 11:790858-790858
18 SLC25A22 NM_001191061.2(SLC25A22):c.*1277C>T SNV Uncertain significance 306232 rs191455128 11:790638-790638 11:790638-790638
19 SLC25A22 NM_001191061.2(SLC25A22):c.150C>T (p.Ser50=) SNV Uncertain significance 306268 rs201574228 11:794510-794510 11:794510-794510
20 SLC25A22 NM_001191061.2(SLC25A22):c.678C>T (p.Tyr226=) SNV Uncertain significance 306262 rs200072903 11:792368-792368 11:792368-792368
21 SLC25A22 NM_001191061.2(SLC25A22):c.-151G>A SNV Uncertain significance 139129 rs587781167 11:795157-795157 11:795157-795157
22 SLC25A22 NM_001191061.2(SLC25A22):c.*328C>T SNV Uncertain significance 306254 rs187161044 11:791587-791587 11:791587-791587
23 SLC25A22 NM_001191061.2(SLC25A22):c.*510A>G SNV Uncertain significance 306251 rs886048694 11:791405-791405 11:791405-791405
24 SLC25A22 NM_001191061.2(SLC25A22):c.-163-917G>C SNV Uncertain significance 306280 rs868674335 11:796086-796086 11:796086-796086
25 SLC25A22 NM_001191061.2(SLC25A22):c.*1084C>G SNV Uncertain significance 306234 rs768779780 11:790831-790831 11:790831-790831
26 SLC25A22 NM_001191061.2(SLC25A22):c.*39C>T SNV Uncertain significance 306257 rs752899555 11:791876-791876 11:791876-791876
27 SLC25A22 NM_001191061.2(SLC25A22):c.-163-1027C>G SNV Uncertain significance 306286 rs886048705 11:796196-796196 11:796196-796196
28 SLC25A22 NM_001191061.2(SLC25A22):c.*845T>A SNV Uncertain significance 306240 rs886048691 11:791070-791070 11:791070-791070
29 SLC25A22 NM_001191061.2(SLC25A22):c.-163-948C>T SNV Uncertain significance 306283 rs565178069 11:796117-796117 11:796117-796117
30 SLC25A22 NM_001191061.2(SLC25A22):c.*1013C>A SNV Uncertain significance 306237 rs542204237 11:790902-790902 11:790902-790902
31 SLC25A22 NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) SNV Uncertain significance 139130 rs146402942 11:794790-794790 11:794790-794790
32 SLC25A22 NM_001191061.2(SLC25A22):c.267C>G (p.Phe89Leu) SNV Uncertain significance 207157 rs143064022 11:793555-793555 11:793555-793555
33 SLC25A22 NM_001191061.2(SLC25A22):c.717C>T (p.Ala239=) SNV Uncertain significance 306261 rs545592967 11:792329-792329 11:792329-792329
34 SLC25A22 NM_001191061.2(SLC25A22):c.-155T>C SNV Uncertain significance 306276 rs886048702 11:795161-795161 11:795161-795161
35 SLC25A22 NM_001191061.2(SLC25A22):c.327G>C (p.Ala109=) SNV Uncertain significance 306267 rs141975755 11:792955-792955 11:792955-792955
36 SLC25A22 NM_001191061.2(SLC25A22):c.742+9A>G SNV Uncertain significance 306260 rs370309722 11:792295-792295 11:792295-792295
37 SLC25A22 NM_001191061.2(SLC25A22):c.*753G>A SNV Uncertain significance 306245 rs544567754 11:791162-791162 11:791162-791162
38 SLC25A22 NM_001191061.2(SLC25A22):c.*810C>T SNV Uncertain significance 306242 rs886048692 11:791105-791105 11:791105-791105
39 SLC25A22 NM_001191061.2(SLC25A22):c.-130C>G SNV Uncertain significance 306273 rs886048700 11:795136-795136 11:795136-795136
40 SLC25A22 NM_001191061.2(SLC25A22):c.651G>A (p.Pro217=) SNV Uncertain significance 306264 rs768604742 11:792395-792395 11:792395-792395
41 SLC25A22 NM_001191061.2(SLC25A22):c.413-12C>T SNV Uncertain significance 139135 rs587781169 11:792739-792739 11:792739-792739
42 SLC25A22 NM_001191061.2(SLC25A22):c.*107G>A SNV Uncertain significance 306256 rs4963152 11:791808-791808 11:791808-791808
43 SLC25A22 NM_001191061.2(SLC25A22):c.-163-1026C>T SNV Uncertain significance 306285 rs868730118 11:796195-796195 11:796195-796195
44 SLC25A22 NM_001191061.2(SLC25A22):c.-163-947G>A SNV Uncertain significance 306282 rs374678084 11:796116-796116 11:796116-796116
45 SLC25A22 NM_001191061.2(SLC25A22):c.*1041C>T SNV Uncertain significance 306236 rs886048690 11:790874-790874 11:790874-790874
46 SLC25A22 NM_001191061.2(SLC25A22):c.-163-898G>A SNV Uncertain significance 306279 rs886048704 11:796067-796067 11:796067-796067
47 SLC25A22 NM_001191061.2(SLC25A22):c.819-3C>T SNV Uncertain significance 306259 rs141931491 11:792071-792071 11:792071-792071
48 SLC25A22 NM_001191061.2(SLC25A22):c.*760G>A SNV Uncertain significance 306244 rs139397585 11:791155-791155 11:791155-791155
49 SLC25A22 NM_001191061.2(SLC25A22):c.*34A>G SNV Uncertain significance 159910 rs74994790 11:791881-791881 11:791881-791881
50 SLC25A22 NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn) SNV Uncertain significance 139131 rs116134953 11:794509-794509 11:794509-794509

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 3:

73
# Symbol AA change Variation ID SNP ID
1 SLC25A22 p.Pro206Leu VAR_022737 rs121918334

Expression for Developmental and Epileptic Encephalopathy 3

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 3.

Pathways for Developmental and Epileptic Encephalopathy 3

GO Terms for Developmental and Epileptic Encephalopathy 3

Cellular components related to Developmental and Epileptic Encephalopathy 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.65 SLC6A9 SLC6A18 SLC6A17 SLC6A15 KCND2
2 membrane GO:0016020 9.65 SLC7A14 SLC7A13 SLC6A9 SLC6A18 SLC6A17 SLC6A15
3 GABA-ergic synapse GO:0098982 9.37 SLC6A17 KCND2
4 integral component of postsynaptic membrane GO:0099055 9.32 SLC6A9 KCND2
5 integral component of membrane GO:0016021 9.32 SLC7A14 SLC7A13 SLC6A9 SLC6A18 SLC6A17 SLC6A15
6 integral component of synaptic vesicle membrane GO:0030285 9.16 SLC6A9 SLC6A17

Biological processes related to Developmental and Epileptic Encephalopathy 3 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.88 SLC6A15 SLC38A8 SLC36A2 SLC25A22 KCND2
2 transmembrane transport GO:0055085 9.85 SLC7A14 SLC7A13 SLC6A9 SLC6A15 SLC25A22 KCND2
3 sodium ion transmembrane transport GO:0035725 9.71 SLC6A9 SLC6A18 SLC6A17 SLC6A15
4 glycine transport GO:0015816 9.5 SLC6A9 SLC6A17 SLC36A2
5 amino acid transport GO:0006865 9.5 SLC7A14 SLC7A13 SLC6A9 SLC6A18 SLC6A15 SLC38A8
6 neutral amino acid transport GO:0015804 9.49 SLC6A17 SLC6A15
7 organic acid transmembrane transport GO:1903825 9.46 SLC6A9 SLC6A15
8 neurotransmitter transport GO:0006836 9.46 SLC6A9 SLC6A18 SLC6A17 SLC6A15
9 leucine transport GO:0015820 9.43 SLC6A17 SLC6A15
10 proline transport GO:0015824 9.43 SLC6A17 SLC6A15 SLC36A2
11 amino acid transmembrane transport GO:0003333 9.17 SLC7A14 SLC7A13 SLC6A9 SLC6A18 SLC6A15 SLC38A8

Molecular functions related to Developmental and Epileptic Encephalopathy 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.43 SLC7A14 SLC7A13 SLC25A22
2 symporter activity GO:0015293 9.35 SLC6A9 SLC6A18 SLC6A17 SLC6A15 SLC25A22
3 glycine transmembrane transporter activity GO:0015187 9.16 SLC6A9 SLC36A2
4 amino acid transmembrane transporter activity GO:0015171 9.02 SLC7A14 SLC6A18 SLC6A15 SLC38A8 SLC36A2

Sources for Developmental and Epileptic Encephalopathy 3

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....