DEE34
MCID: DVL061
MIFTS: 34

Developmental and Epileptic Encephalopathy 34 (DEE34)

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 34

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 34:

Name: Developmental and Epileptic Encephalopathy 34 57 12
Early Infantile Epileptic Encephalopathy 34 12 29 6 15
Epileptic Encephalopathy, Early Infantile, 34 57 73
Eiee34 57 73
Dee34 57 12
Epileptic Encephalopathy, Early Infantile, 34; Eiee34 57

Characteristics:

OMIM®:

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

Miscellaneous:
two unrelated families have been reported (last curated november 2015)
seizures are refractory
onset in first weeks or months of life


HPO:

31
developmental and epileptic encephalopathy 34:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 34

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 34: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE34 is characterized by onset of refractory migrating focal seizures in infancy. Affected children show developmental regression and are severely impaired globally.

MalaCards based summary : Developmental and Epileptic Encephalopathy 34, also known as early infantile epileptic encephalopathy 34, is related to slc12a5-related epilepsy of infancy with migrating focal seizures and hypothalamic hamartomas. An important gene associated with Developmental and Epileptic Encephalopathy 34 is SLC12A5 (Solute Carrier Family 12 Member 5). Related phenotypes are intellectual disability and abnormal pyramidal sign

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has material basis in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12.

OMIM® : 57 Developmental and epileptic encephalopathy-34 (DEE34) is an autosomal recessive severe neurologic disorder characterized by onset of refractory migrating focal seizures in the first year of life after normal early development. Affected children show developmental regression and are severely impaired globally (summary by Stodberg et al., 2015). For a discussion of genetic heterogeneity of DEE, see 308350. (616645) (Updated 05-Mar-2021)

Related Diseases for Developmental and Epileptic Encephalopathy 34

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 34 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 slc12a5-related epilepsy of infancy with migrating focal seizures 11.0
2 hypothalamic hamartomas 9.9 SLC12A5 SLC12A2
3 malignant migrating partial seizures of infancy 9.7 SLC12A5 LOC113960611
4 renal tubular transport disease 9.7 STK39 SLC12A2
5 rett syndrome 9.6 SLC12A5 SLC12A2
6 epilepsy, idiopathic generalized 9.6 SLC12A5 SLC12A2 LOC113960611
7 gitelman syndrome 9.6 STK39 SLC12A2
8 early infantile epileptic encephalopathy 9.5 SLC12A5 SLC12A2 LOC113960611
9 epilepsy, idiopathic generalized 14 9.5 STK39 SLC12A5 SLC12A2
10 agenesis of the corpus callosum with peripheral neuropathy 9.5 STK39 SLC12A5 SLC12A2
11 bartter disease 9.5 STK39 SLC12A5 SLC12A2
12 neuropathy, hereditary sensory and autonomic, type iia 9.4 STK39 SLC12A5 SLC12A2

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 34:



Diseases related to Developmental and Epileptic Encephalopathy 34

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 34

Human phenotypes related to Developmental and Epileptic Encephalopathy 34:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 abnormal pyramidal sign 31 HP:0007256
3 developmental regression 31 HP:0002376
4 global developmental delay 31 HP:0001263
5 status epilepticus 31 HP:0002133
6 cerebral atrophy 31 HP:0002059
7 postnatal microcephaly 31 HP:0005484
8 excessive salivation 31 HP:0003781
9 inability to walk 31 HP:0002540
10 delayed cns myelination 31 HP:0002188
11 bilateral tonic-clonic seizure with focal onset 31 HP:0007334
12 focal hemiclonic seizure 31 HP:0006813

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
intellectual disability
cerebral atrophy
delayed myelination
normal early development
developmental regression after seizure onset
more
Head And Neck Head:
decreased head circumference

Clinical features from OMIM®:

616645 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 34

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 34

Genetic Tests for Developmental and Epileptic Encephalopathy 34

Genetic tests related to Developmental and Epileptic Encephalopathy 34:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 34 29 SLC12A5

Anatomical Context for Developmental and Epileptic Encephalopathy 34

Publications for Developmental and Epileptic Encephalopathy 34

Articles related to Developmental and Epileptic Encephalopathy 34:

# Title Authors PMID Year
1
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. 57 6
26333769 2015

Variations for Developmental and Epileptic Encephalopathy 34

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 34:

6 (show top 50) (show all 200)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC12A5 NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp) SNV Pathogenic 217905 rs863225305 20:44674530-44674530 20:46045891-46045891
2 SLC12A5 NM_020708.5(SLC12A5):c.863T>A (p.Leu288His) SNV Pathogenic 217906 rs863225306 20:44669976-44669976 20:46041337-46041337
3 SLC12A5 NM_020708.5(SLC12A5):c.1208T>C (p.Leu403Pro) SNV Pathogenic 217904 rs863225304 20:44671933-44671933 20:46043294-46043294
4 SLC12A5 NM_020708.5(SLC12A5):c.980dup (p.Asn328fs) Duplication Pathogenic 475662 rs1555863593 20:44670092-44670093 20:46041453-46041454
5 SLC12A5 NM_020708.5(SLC12A5):c.706_707TG[2] (p.Val237fs) Microsatellite Pathogenic 542316 rs1555863145 20:44669105-44669106 20:46040466-46040467
6 SLC12A5 NM_020708.5(SLC12A5):c.279+1G>C SNV Pathogenic 623492 rs1568858867 20:44664175-44664175 20:46035536-46035536
7 SLC12A5 NM_020708.5(SLC12A5):c.572C>T (p.Ala191Val) SNV Pathogenic 623493 rs1568859798 20:44665984-44665984 20:46037345-46037345
8 SLC12A5 NM_020708.5(SLC12A5):c.953G>C (p.Trp318Ser) SNV Pathogenic 623494 rs1259210706 20:44670066-44670066 20:46041427-46041427
9 SLC12A5 NM_020708.5(SLC12A5):c.967T>C (p.Ser323Pro) SNV Pathogenic 623495 rs1220094830 20:44670080-44670080 20:46041441-46041441
10 SLC12A5 NM_020708.5(SLC12A5):c.1127C>T (p.Ser376Leu) SNV Pathogenic 623496 rs1568862550 20:44671852-44671852 20:46043213-46043213
11 SLC12A5 NM_020708.5(SLC12A5):c.1243A>G (p.Met415Val) SNV Pathogenic 623497 rs368484023 20:44672277-44672277 20:46043638-46043638
12 SLC12A5 NM_020708.5(SLC12A5):c.2239_2241TCC[1] (p.Ser748del) Microsatellite Pathogenic 623498 rs1568866916 20:44680370-44680372 20:46051731-46051733
13 SLC12A5 NM_020708.5(SLC12A5):c.2570G>T (p.Arg857Leu) SNV Pathogenic 623499 rs750336750 20:44682239-44682239 20:46053600-46053600
14 SLC12A5 NM_020708.5(SLC12A5):c.115G>T (p.Glu39Ter) SNV Pathogenic 659657 rs1600590580 20:44663649-44663649 20:46035010-46035010
15 LOC100128028 NC_000020.11:g.(?_46021746)_(46057625_?)del Deletion Pathogenic 833121 20:44650385-44686264
16 SLC12A5 NC_000020.11:g.(?_46045858)_(46046456_?)del Deletion Pathogenic 833486 20:44674497-44675095
17 SLC12A5 NM_020708.5(SLC12A5):c.42dup (p.Ala15fs) Duplication Pathogenic 938667 20:44658024-44658025 20:46029385-46029386
18 SLC12A5 NM_020708.5(SLC12A5):c.2250dup (p.Arg751fs) Duplication Pathogenic 848475 20:44680381-44680382 20:46051742-46051743
19 SLC12A5 NM_020708.5(SLC12A5):c.266del (p.Lys89fs) Deletion Pathogenic 856637 20:44664156-44664156 20:46035517-46035517
20 SLC12A5 NM_020708.5(SLC12A5):c.24C>A (p.Cys8Ter) SNV Pathogenic 934757 20:44658007-44658007 20:46029368-46029368
21 LOC113960611 NM_020708.5(SLC12A5):c.3274G>A (p.Glu1092Lys) SNV Likely pathogenic 495251 rs1555868402 20:44686167-44686167 20:46057528-46057528
22 SLC12A5 NM_020708.5(SLC12A5):c.53-2A>G SNV Likely pathogenic 857040 20:44663585-44663585 20:46034946-46034946
23 SLC12A5 NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala) SNV Conflicting interpretations of pathogenicity 475651 rs201268862 20:44681670-44681670 20:46053031-46053031
24 SLC12A5 NM_020708.5(SLC12A5):c.2439G>A (p.Met813Ile) SNV Uncertain significance 542320 rs200191107 20:44681657-44681657 20:46053018-46053018
25 SLC12A5 NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala) SNV Uncertain significance 475651 rs201268862 20:44681670-44681670 20:46053031-46053031
26 SLC12A5 NM_020708.5(SLC12A5):c.3126-6C>A SNV Uncertain significance 542314 rs372120376 20:44685803-44685803 20:46057164-46057164
27 SLC12A5 NM_020708.5(SLC12A5):c.2259C>T (p.Gly753=) SNV Uncertain significance 935959 20:44680391-44680391 20:46051752-46051752
28 SLC12A5 NM_020708.5(SLC12A5):c.2191C>T (p.Arg731Cys) SNV Uncertain significance 936293 20:44680323-44680323 20:46051684-46051684
29 SLC12A5 NM_020708.5(SLC12A5):c.1689-7G>A SNV Uncertain significance 931283 20:44674970-44674970 20:46046331-46046331
30 SLC12A5 NM_020708.5(SLC12A5):c.1523G>A (p.Arg508His) SNV Uncertain significance 933510 20:44673733-44673733 20:46045094-46045094
31 SLC12A5 NM_020708.5(SLC12A5):c.2092C>A (p.Leu698Met) SNV Uncertain significance 934087 20:44678340-44678340 20:46049701-46049701
32 SLC12A5 NM_020708.5(SLC12A5):c.3131A>T (p.Gln1044Leu) SNV Uncertain significance 934752 20:44685814-44685814 20:46057175-46057175
33 SLC12A5 NM_020708.5(SLC12A5):c.464C>T (p.Thr155Met) SNV Uncertain significance 857432 20:44665417-44665417 20:46036778-46036778
34 SLC12A5 NM_020708.5(SLC12A5):c.1447T>C (p.Ser483Pro) SNV Uncertain significance 857978 20:44673657-44673657 20:46045018-46045018
35 SLC12A5 NM_020708.5(SLC12A5):c.2984G>C (p.Gly995Ala) SNV Uncertain significance 859205 20:44685077-44685077 20:46056438-46056438
36 SLC12A5 NM_020708.5(SLC12A5):c.1961G>A (p.Arg654His) SNV Uncertain significance 859732 20:44676673-44676673 20:46048034-46048034
37 SLC12A5 NM_020708.5(SLC12A5):c.298T>A (p.Phe100Ile) SNV Uncertain significance 861587 20:44664434-44664434 20:46035795-46035795
38 SLC12A5 NM_020708.5(SLC12A5):c.3033C>G (p.Asp1011Glu) SNV Uncertain significance 863592 20:44685126-44685126 20:46056487-46056487
39 SLC12A5 NM_020708.5(SLC12A5):c.3028A>G (p.Lys1010Glu) SNV Uncertain significance 863852 20:44685121-44685121 20:46056482-46056482
40 SLC12A5 NM_020708.5(SLC12A5):c.3250G>A (p.Asp1084Asn) SNV Uncertain significance 849635 20:44685933-44685933 20:46057294-46057294
41 SLC12A5 NM_020708.5(SLC12A5):c.900T>G (p.Asp300Glu) SNV Uncertain significance 850143 20:44670013-44670013 20:46041374-46041374
42 SLC12A5 NM_020708.5(SLC12A5):c.1237+6G>A SNV Uncertain significance 851769 20:44671968-44671968 20:46043329-46043329
43 SLC12A5 NM_020708.5(SLC12A5):c.2876C>T (p.Thr959Met) SNV Uncertain significance 852365 20:44684877-44684877 20:46056238-46056238
44 SLC12A5 NM_020708.5(SLC12A5):c.3062C>T (p.Pro1021Leu) SNV Uncertain significance 852888 20:44685155-44685155 20:46056516-46056516
45 SLC12A5 NM_020708.5(SLC12A5):c.2041G>A (p.Asp681Asn) SNV Uncertain significance 853906 20:44678289-44678289 20:46049650-46049650
46 SLC12A5 NM_020708.5(SLC12A5):c.287G>A (p.Arg96His) SNV Uncertain significance 855278 20:44664423-44664423 20:46035784-46035784
47 SLC12A5 NM_020708.5(SLC12A5):c.684C>A (p.Asn228Lys) SNV Uncertain significance 939476 20:44669083-44669083 20:46040444-46040444
48 SLC12A5 NM_020708.5(SLC12A5):c.1570-3C>G SNV Uncertain significance 941338 20:44674514-44674514 20:46045875-46045875
49 SLC12A5 NM_020708.5(SLC12A5):c.2300A>G (p.Gln767Arg) SNV Uncertain significance 943197 20:44680432-44680432 20:46051793-46051793
50 SLC12A5 NM_020708.5(SLC12A5):c.1318G>A (p.Ala440Thr) SNV Uncertain significance 944302 20:44672352-44672352 20:46043713-46043713

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 34:

73
# Symbol AA change Variation ID SNP ID
1 SLC12A5 p.Leu311His VAR_075078 rs863225306
2 SLC12A5 p.Leu426Pro VAR_075079 rs863225304
3 SLC12A5 p.Gly551Asp VAR_075080 rs863225305

Expression for Developmental and Epileptic Encephalopathy 34

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 34.

Pathways for Developmental and Epileptic Encephalopathy 34

GO Terms for Developmental and Epileptic Encephalopathy 34

Cellular components related to Developmental and Epileptic Encephalopathy 34 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basolateral plasma membrane GO:0016323 8.96 STK39 SLC12A2
2 cell periphery GO:0071944 8.62 SLC12A5 SLC12A2

Biological processes related to Developmental and Epileptic Encephalopathy 34 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 potassium ion transport GO:0006813 9.48 SLC12A5 SLC12A2
2 potassium ion transmembrane transport GO:0071805 9.46 SLC12A5 SLC12A2
3 chloride transmembrane transport GO:1902476 9.43 SLC12A5 SLC12A2
4 chloride transport GO:0006821 9.4 SLC12A5 SLC12A2
5 potassium ion import across plasma membrane GO:1990573 9.37 SLC12A5 SLC12A2
6 cell volume homeostasis GO:0006884 9.32 SLC12A5 SLC12A2
7 cellular response to chemokine GO:1990869 9.26 STK39 SLC12A2
8 potassium ion homeostasis GO:0055075 9.16 SLC12A5 SLC12A2
9 chloride ion homeostasis GO:0055064 8.96 SLC12A5 SLC12A2
10 cellular chloride ion homeostasis GO:0030644 8.62 SLC12A5 SLC12A2

Molecular functions related to Developmental and Epileptic Encephalopathy 34 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.33 STK39 SLC12A5 SLC12A2
2 transmembrane transporter activity GO:0022857 9.32 SLC12A5 SLC12A2
3 symporter activity GO:0015293 9.26 SLC12A5 SLC12A2
4 potassium:chloride symporter activity GO:0015379 8.96 SLC12A5 SLC12A2
5 cation:chloride symporter activity GO:0015377 8.62 SLC12A5 SLC12A2

Sources for Developmental and Epileptic Encephalopathy 34

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
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