EIEE34
MCID: EPL159
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 34 (EIEE34)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic 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 58 76
Early Infantile Epileptic Encephalopathy 34 12 30 6
Eiee34 58 76

Characteristics:

OMIM:

58
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:

33
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 : 76 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, also known as early infantile epileptic encephalopathy 34, is related to slc12a5-related epilepsy of infancy with migrating focal seizures. 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

Disease Ontology : 12 An early infantile 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 : 58 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 Early 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, 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 Epileptic Encephalopathy, Early Infantile, 68
Epileptic Encephalopathy, Early Infantile, 69 Epileptic Encephalopathy, Early Infantile, 70
Epileptic Encephalopathy, Early Infantile, 71 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74

Diseases related to Epileptic Encephalopathy, Early Infantile, 34 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 slc12a5-related epilepsy of infancy with migrating focal seizures 11.1

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 34

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

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 developmental regression 33 HP:0002376
3 abnormal pyramidal sign 33 HP:0007256
4 global developmental delay 33 HP:0001263
5 inability to walk 33 HP:0002540
6 status epilepticus 33 HP:0002133
7 generalized tonic-clonic seizures with focal onset 33 HP:0007334
8 cerebral atrophy 33 HP:0002059
9 postnatal microcephaly 33 HP:0005484
10 excessive salivation 33 HP:0003781
11 delayed cns myelination 33 HP:0002188
12 hemiclonic seizures 33 HP:0006813

Symptoms via clinical synopsis from OMIM:

58
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

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 30 SLC12A5

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 34

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

42
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 34

Articles related to Epileptic Encephalopathy, Early Infantile, 34:

# Title Authors Year
1
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. ( 26333769 )
2015

Variations for Epileptic Encephalopathy, Early Infantile, 34

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

76
# 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 148)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC12A5 NM_020708.4(SLC12A5): c.1208T> C (p.Leu403Pro) single nucleotide variant Pathogenic rs863225304 GRCh37 Chromosome 20, 44671933: 44671933
2 SLC12A5 NM_020708.4(SLC12A5): c.1208T> C (p.Leu403Pro) single nucleotide variant Pathogenic rs863225304 GRCh38 Chromosome 20, 46043294: 46043294
3 SLC12A5 NM_020708.4(SLC12A5): c.1583G> A (p.Gly528Asp) single nucleotide variant Pathogenic rs863225305 GRCh38 Chromosome 20, 46045891: 46045891
4 SLC12A5 NM_020708.4(SLC12A5): c.1583G> A (p.Gly528Asp) single nucleotide variant Pathogenic rs863225305 GRCh37 Chromosome 20, 44674530: 44674530
5 SLC12A5 NM_020708.4(SLC12A5): c.863T> A (p.Leu288His) single nucleotide variant Pathogenic rs863225306 GRCh38 Chromosome 20, 46041337: 46041337
6 SLC12A5 NM_020708.4(SLC12A5): c.863T> A (p.Leu288His) 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 rs1555863134 GRCh37 Chromosome 20, 44669091: 44669091
14 SLC12A5 NM_020708.4(SLC12A5): c.692G> A (p.Arg231His) single nucleotide variant Uncertain significance rs1555863134 GRCh38 Chromosome 20, 46040452: 46040452
15 SLC12A5 NM_001134771.1(SLC12A5): c.1049dup (p.Asn351Glnfs) duplication Pathogenic rs1555863593 GRCh38 Chromosome 20, 46041454: 46041454
16 SLC12A5 NM_001134771.1(SLC12A5): c.1049dup (p.Asn351Glnfs) duplication Pathogenic rs1555863593 GRCh37 Chromosome 20, 44670093: 44670093
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 GRCh38 Chromosome 20, 46037307: 46037307
26 SLC12A5 NM_020708.4(SLC12A5): c.534T> C (p.Gly178=) single nucleotide variant Benign rs3746519 GRCh37 Chromosome 20, 44665946: 44665946
27 SLC12A5 NM_020708.4(SLC12A5): c.1512G> A (p.Thr504=) single nucleotide variant Benign rs41282782 GRCh38 Chromosome 20, 46045083: 46045083
28 SLC12A5 NM_020708.4(SLC12A5): c.1512G> A (p.Thr504=) single nucleotide variant Benign rs41282782 GRCh37 Chromosome 20, 44673722: 44673722
29 SLC12A5 NM_020708.4(SLC12A5): c.2059G> T (p.Val687Leu) single nucleotide variant Uncertain significance rs1175869873 GRCh38 Chromosome 20, 46049668: 46049668
30 SLC12A5 NM_020708.4(SLC12A5): c.2059G> T (p.Val687Leu) single nucleotide variant Uncertain significance rs1175869873 GRCh37 Chromosome 20, 44678307: 44678307
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 GRCh38 Chromosome 20, 46035852: 46035852
34 SLC12A5 NM_020708.4(SLC12A5): c.355C> A (p.Arg119=) single nucleotide variant Benign rs3848724 GRCh37 Chromosome 20, 44664491: 44664491
35 SLC12A5 NM_020708.4(SLC12A5): c.694G> A (p.Val232Ile) single nucleotide variant Uncertain significance rs1555863136 GRCh38 Chromosome 20, 46040454: 46040454
36 SLC12A5 NM_020708.4(SLC12A5): c.694G> A (p.Val232Ile) single nucleotide variant Uncertain significance rs1555863136 GRCh37 Chromosome 20, 44669093: 44669093
37 SLC12A5 NM_020708.4(SLC12A5): c.851T> G (p.Phe284Cys) single nucleotide variant Uncertain significance rs1213597825 GRCh37 Chromosome 20, 44669250: 44669250
38 SLC12A5 NM_020708.4(SLC12A5): c.851T> G (p.Phe284Cys) single nucleotide variant Uncertain significance rs1213597825 GRCh38 Chromosome 20, 46040611: 46040611
39 SLC12A5 NM_020708.4(SLC12A5): c.942C> T (p.Thr314=) single nucleotide variant Likely benign rs143072268 GRCh38 Chromosome 20, 46041416: 46041416
40 SLC12A5 NM_020708.4(SLC12A5): c.942C> T (p.Thr314=) single nucleotide variant Likely benign rs143072268 GRCh37 Chromosome 20, 44670055: 44670055
41 SLC12A5 NM_020708.4(SLC12A5): c.1613T> C (p.Leu538Pro) single nucleotide variant Uncertain significance rs1555865050 GRCh38 Chromosome 20, 46045921: 46045921
42 SLC12A5 NM_020708.4(SLC12A5): c.1613T> C (p.Leu538Pro) single nucleotide variant Uncertain significance rs1555865050 GRCh37 Chromosome 20, 44674560: 44674560
43 SLC12A5 NM_020708.4(SLC12A5): c.2292G> T (p.Gly764=) single nucleotide variant Benign rs79522550 GRCh37 Chromosome 20, 44680424: 44680424
44 SLC12A5 NM_020708.4(SLC12A5): c.2292G> T (p.Gly764=) single nucleotide variant Benign rs79522550 GRCh38 Chromosome 20, 46051785: 46051785
45 SLC12A5 NM_020708.4(SLC12A5): c.2330G> A (p.Arg777His) single nucleotide variant Uncertain significance rs749336515 GRCh37 Chromosome 20, 44680462: 44680462
46 SLC12A5 NM_020708.4(SLC12A5): c.2330G> A (p.Arg777His) single nucleotide variant Uncertain significance rs749336515 GRCh38 Chromosome 20, 46051823: 46051823
47 SLC12A5 NM_020708.4(SLC12A5): c.3260-3C> A single nucleotide variant Uncertain significance rs762852631 GRCh37 Chromosome 20, 44686150: 44686150
48 SLC12A5 NM_020708.4(SLC12A5): c.3260-3C> A single nucleotide variant Uncertain significance rs762852631 GRCh38 Chromosome 20, 46057511: 46057511
49 SLC12A5 NM_020708.4(SLC12A5): c.273G> A (p.Pro91=) single nucleotide variant Likely benign rs183377866 GRCh38 Chromosome 20, 46035529: 46035529
50 SLC12A5 NM_020708.4(SLC12A5): c.273G> A (p.Pro91=) single nucleotide variant Likely benign rs183377866 GRCh37 Chromosome 20, 44664168: 44664168

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

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