EIEE34
MCID: EPL159
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 34 (EIEE34)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 34

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 34:

Name: Epileptic Encephalopathy, Early Infantile, 34 57 75
Early Infantile Epileptic Encephalopathy 34 29 6
Eiee34 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
epileptic encephalopathy, early infantile, 34:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 34

UniProtKB/Swiss-Prot : 75 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 : Epileptic Encephalopathy, Early Infantile, 34, is also known as early infantile epileptic encephalopathy 34. An important gene associated with Epileptic Encephalopathy, Early Infantile, 34 is SLC12A5 (Solute Carrier Family 12 Member 5). Affiliated tissues include liver and eye, and related phenotypes are intellectual disability and developmental regression

OMIM : 57 Early infantile epileptic encephalopathy-34 is an autosomal recessive severe neurologic disorder characterized by onset of refractory migrating focal seizures in infancy. Affected children show developmental regression and are severely impaired globally (summary by Stodberg et al., 2015). For a discussion of genetic heterogeneity of EIEE, see 308350. (616645)

Related Diseases for Epileptic Encephalopathy, Early Infantile, 34

Diseases in the Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 9 Epileptic Encephalopathy, Early Infantile, 8
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 36
Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 6
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 25
Epileptic Encephalopathy, Early Infantile, 26 Epileptic Encephalopathy, Early Infantile, 27
Epileptic Encephalopathy, Early Infantile, 28 Epileptic Encephalopathy, Early Infantile, 29
Epileptic Encephalopathy, Early Infantile, 30 Epileptic Encephalopathy, Early Infantile, 31
Epileptic Encephalopathy, Early Infantile, 32 Epileptic Encephalopathy, Early Infantile, 33
Epileptic Encephalopathy, Early Infantile, 50 Epileptic Encephalopathy, Early Infantile, 34
Epileptic Encephalopathy, Early Infantile, 35 Epileptic Encephalopathy, Early Infantile, 37
Epileptic Encephalopathy, Early Infantile, 38 Epileptic Encephalopathy, Early Infantile, 40
Epileptic Encephalopathy, Early Infantile, 41 Epileptic Encephalopathy, Early Infantile, 42
Epileptic Encephalopathy, Early Infantile, 43 Epileptic Encephalopathy, Early Infantile, 44
Epileptic Encephalopathy, Early Infantile, 45 Epileptic Encephalopathy, Early Infantile, 46
Epileptic Encephalopathy, Early Infantile, 47 Epileptic Encephalopathy, Early Infantile, 48
Epileptic Encephalopathy, Early Infantile, 49 Epileptic Encephalopathy, Early Infantile, 51
Epileptic Encephalopathy, Early Infantile, 52 Epileptic Encephalopathy, Early Infantile, 53
Epileptic Encephalopathy, Early Infantile, 54 Epileptic Encephalopathy, Early Infantile, 55
Epileptic Encephalopathy, Early Infantile, 56 Epileptic Encephalopathy, Early Infantile, 57
Epileptic Encephalopathy, Early Infantile, 58 Epileptic Encephalopathy, Early Infantile, 59
Epileptic Encephalopathy, Early Infantile, 60 Epileptic Encephalopathy, Early Infantile, 61
Epileptic Encephalopathy, Early Infantile, 62 Epileptic Encephalopathy, Early Infantile, 63
Epileptic Encephalopathy, Early Infantile, 64 Epileptic Encephalopathy, Early Infantile, 65
Epileptic Encephalopathy, Early Infantile, 66 Epileptic Encephalopathy, Early Infantile, 67
Early Infantile Epileptic Encephalopathy Infantile Epileptic Encephalopathy 56
Infantile Epileptic Encephalopathy 55 Infantile Epileptic Encephalopathy 57
Infantile Epileptic Encephalopathy 58 Infantile Epileptic Encephalopathy 59

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 34

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 34:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 developmental regression 32 HP:0002376
3 global developmental delay 32 HP:0001263
4 inability to walk 32 HP:0002540
5 status epilepticus 32 HP:0002133
6 cerebral atrophy 32 HP:0002059
7 postnatal microcephaly 32 HP:0005484
8 excessive salivation 32 HP:0003781
9 delayed cns myelination 32 HP:0002188
10 hemiclonic seizures 32 HP:0006813
11 abnormal pyramidal sign 32 HP:0007256
12 generalized tonic-clonic seizures with focal onset 32 HP:0007334

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 34

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 34

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 34

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 34:

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

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 34

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 34:

41
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 34

Variations for Epileptic Encephalopathy, Early Infantile, 34

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 34:

75
# 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

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 34:

6 (show top 50) (show all 132)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC12A5 NM_001134771.1(SLC12A5): c.1277T> C (p.Leu426Pro) single nucleotide variant Pathogenic rs863225304 GRCh37 Chromosome 20, 44671933: 44671933
2 SLC12A5 NM_001134771.1(SLC12A5): c.1277T> C (p.Leu426Pro) single nucleotide variant Pathogenic rs863225304 GRCh38 Chromosome 20, 46043294: 46043294
3 SLC12A5 NM_001134771.1(SLC12A5): c.1652G> A (p.Gly551Asp) single nucleotide variant Pathogenic rs863225305 GRCh38 Chromosome 20, 46045891: 46045891
4 SLC12A5 NM_001134771.1(SLC12A5): c.1652G> A (p.Gly551Asp) single nucleotide variant Pathogenic rs863225305 GRCh37 Chromosome 20, 44674530: 44674530
5 SLC12A5 NM_001134771.1(SLC12A5): c.932T> A (p.Leu311His) single nucleotide variant Pathogenic rs863225306 GRCh38 Chromosome 20, 46041337: 46041337
6 SLC12A5 NM_001134771.1(SLC12A5): c.932T> A (p.Leu311His) single nucleotide variant Pathogenic rs863225306 GRCh37 Chromosome 20, 44669976: 44669976
7 SLC12A5 NM_020708.4(SLC12A5): c.2855G> A (p.Arg952His) single nucleotide variant Benign rs142740233 GRCh37 Chromosome 20, 44684856: 44684856
8 SLC12A5 NM_020708.4(SLC12A5): c.2855G> A (p.Arg952His) single nucleotide variant Benign rs142740233 GRCh38 Chromosome 20, 46056217: 46056217
9 SLC12A5 NM_020708.4(SLC12A5): c.1189A> T (p.Thr397Ser) single nucleotide variant Benign/Likely benign rs34058554 GRCh37 Chromosome 20, 44671914: 44671914
10 SLC12A5 NM_020708.4(SLC12A5): c.1189A> T (p.Thr397Ser) single nucleotide variant Benign/Likely benign rs34058554 GRCh38 Chromosome 20, 46043275: 46043275
11 SLC12A5 NM_020708.4(SLC12A5): c.2840C> G (p.Ala947Gly) single nucleotide variant Uncertain significance rs199934904 GRCh37 Chromosome 20, 44684841: 44684841
12 SLC12A5 NM_020708.4(SLC12A5): c.2840C> G (p.Ala947Gly) single nucleotide variant Uncertain significance rs199934904 GRCh38 Chromosome 20, 46056202: 46056202
13 SLC12A5 NM_020708.4(SLC12A5): c.692G> A (p.Arg231His) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 44669091: 44669091
14 SLC12A5 NM_020708.4(SLC12A5): c.692G> A (p.Arg231His) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 46040452: 46040452
15 SLC12A5 NM_001134771.1(SLC12A5): c.1049dup (p.Asn351Glnfs) duplication Pathogenic GRCh37 Chromosome 20, 44670093: 44670093
16 SLC12A5 NM_001134771.1(SLC12A5): c.1049dup (p.Asn351Glnfs) duplication Pathogenic GRCh38 Chromosome 20, 46041454: 46041454
17 SLC12A5 NM_020708.4(SLC12A5): c.1155C> T (p.Ile385=) single nucleotide variant Benign rs35804246 GRCh37 Chromosome 20, 44671880: 44671880
18 SLC12A5 NM_020708.4(SLC12A5): c.1155C> T (p.Ile385=) single nucleotide variant Benign rs35804246 GRCh38 Chromosome 20, 46043241: 46043241
19 SLC12A5 NM_020708.4(SLC12A5): c.2376T> C (p.Ile792=) single nucleotide variant Uncertain significance rs201525976 GRCh38 Chromosome 20, 46051869: 46051869
20 SLC12A5 NM_020708.4(SLC12A5): c.2376T> C (p.Ile792=) single nucleotide variant Uncertain significance rs201525976 GRCh37 Chromosome 20, 44680508: 44680508
21 SLC12A5 NM_020708.4(SLC12A5): c.2452C> G (p.Pro818Ala) single nucleotide variant Uncertain significance rs201268862 GRCh37 Chromosome 20, 44681670: 44681670
22 SLC12A5 NM_020708.4(SLC12A5): c.2452C> G (p.Pro818Ala) single nucleotide variant Uncertain significance rs201268862 GRCh38 Chromosome 20, 46053031: 46053031
23 SLC12A5 NM_020708.4(SLC12A5): c.482-5T> C single nucleotide variant Benign rs147042920 GRCh37 Chromosome 20, 44665889: 44665889
24 SLC12A5 NM_020708.4(SLC12A5): c.482-5T> C single nucleotide variant Benign rs147042920 GRCh38 Chromosome 20, 46037250: 46037250
25 SLC12A5 NM_020708.4(SLC12A5): c.534T> C (p.Gly178=) single nucleotide variant Benign rs3746519 GRCh37 Chromosome 20, 44665946: 44665946
26 SLC12A5 NM_020708.4(SLC12A5): c.534T> C (p.Gly178=) single nucleotide variant Benign rs3746519 GRCh38 Chromosome 20, 46037307: 46037307
27 SLC12A5 NM_020708.4(SLC12A5): c.1512G> A (p.Thr504=) single nucleotide variant Benign rs41282782 GRCh37 Chromosome 20, 44673722: 44673722
28 SLC12A5 NM_020708.4(SLC12A5): c.1512G> A (p.Thr504=) single nucleotide variant Benign rs41282782 GRCh38 Chromosome 20, 46045083: 46045083
29 SLC12A5 NM_020708.4(SLC12A5): c.2059G> T (p.Val687Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 44678307: 44678307
30 SLC12A5 NM_020708.4(SLC12A5): c.2059G> T (p.Val687Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 46049668: 46049668
31 SLC12A5 NM_020708.4(SLC12A5): c.2100A> G (p.Ala700=) single nucleotide variant Benign rs6032635 GRCh37 Chromosome 20, 44678348: 44678348
32 SLC12A5 NM_020708.4(SLC12A5): c.2100A> G (p.Ala700=) single nucleotide variant Benign rs6032635 GRCh38 Chromosome 20, 46049709: 46049709
33 SLC12A5 NM_020708.4(SLC12A5): c.355C> A (p.Arg119=) single nucleotide variant Benign rs3848724 GRCh37 Chromosome 20, 44664491: 44664491
34 SLC12A5 NM_020708.4(SLC12A5): c.355C> A (p.Arg119=) single nucleotide variant Benign rs3848724 GRCh38 Chromosome 20, 46035852: 46035852
35 SLC12A5 NM_020708.4(SLC12A5): c.694G> A (p.Val232Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 44669093: 44669093
36 SLC12A5 NM_020708.4(SLC12A5): c.694G> A (p.Val232Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 46040454: 46040454
37 SLC12A5 NM_020708.4(SLC12A5): c.851T> G (p.Phe284Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 44669250: 44669250
38 SLC12A5 NM_020708.4(SLC12A5): c.851T> G (p.Phe284Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 46040611: 46040611
39 SLC12A5 NM_020708.4(SLC12A5): c.942C> T (p.Thr314=) single nucleotide variant Likely benign rs143072268 GRCh37 Chromosome 20, 44670055: 44670055
40 SLC12A5 NM_020708.4(SLC12A5): c.942C> T (p.Thr314=) single nucleotide variant Likely benign rs143072268 GRCh38 Chromosome 20, 46041416: 46041416
41 SLC12A5 NM_020708.4(SLC12A5): c.1613T> C (p.Leu538Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 46045921: 46045921
42 SLC12A5 NM_020708.4(SLC12A5): c.1613T> C (p.Leu538Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 44674560: 44674560
43 SLC12A5 NM_020708.4(SLC12A5): c.2292G> T (p.Gly764=) single nucleotide variant Benign rs79522550 GRCh38 Chromosome 20, 46051785: 46051785
44 SLC12A5 NM_020708.4(SLC12A5): c.2292G> T (p.Gly764=) single nucleotide variant Benign rs79522550 GRCh37 Chromosome 20, 44680424: 44680424
45 SLC12A5 NM_020708.4(SLC12A5): c.2330G> A (p.Arg777His) single nucleotide variant Uncertain significance rs749336515 GRCh38 Chromosome 20, 46051823: 46051823
46 SLC12A5 NM_020708.4(SLC12A5): c.2330G> A (p.Arg777His) single nucleotide variant Uncertain significance rs749336515 GRCh37 Chromosome 20, 44680462: 44680462
47 SLC12A5 NM_020708.4(SLC12A5): c.3260-3C> A single nucleotide variant Uncertain significance rs762852631 GRCh38 Chromosome 20, 46057511: 46057511
48 SLC12A5 NM_020708.4(SLC12A5): c.3260-3C> A single nucleotide variant Uncertain significance rs762852631 GRCh37 Chromosome 20, 44686150: 44686150
49 SLC12A5 NM_020708.4(SLC12A5): c.2680-3C> T single nucleotide variant Likely benign rs141933171 GRCh38 Chromosome 20, 46054913: 46054913
50 SLC12A5 NM_020708.4(SLC12A5): c.2680-3C> T single nucleotide variant Likely benign rs141933171 GRCh37 Chromosome 20, 44683552: 44683552

Expression for Epileptic Encephalopathy, Early Infantile, 34

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 34.

Pathways for Epileptic Encephalopathy, Early Infantile, 34

GO Terms for Epileptic Encephalopathy, Early Infantile, 34

Sources for Epileptic Encephalopathy, Early Infantile, 34

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....