MCID: EPL159
MIFTS: 21

Epileptic Encephalopathy, Early Infantile, 34

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Liver diseases, Metabolic diseases, Muscle diseases, Eye diseases, Fetal 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). Related phenotypes are intellectual disability and global developmental delay

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
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 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 global developmental delay 32 HP:0001263
3 cerebral atrophy 32 HP:0002059
4 status epilepticus 32 HP:0002133
5 delayed cns myelination 32 HP:0002188
6 inability to walk 32 HP:0002540
7 excessive salivation 32 HP:0003781
8 postnatal microcephaly 32 HP:0005484
9 hemiclonic seizures 32 HP:0006813
10 abnormal pyramidal signs 32 HP:0007256
11 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

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 100)
# 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 GRCh38 Chromosome 20, 46043275: 46043275
10 SLC12A5 NM_020708.4(SLC12A5): c.1189A> T (p.Thr397Ser) single nucleotide variant Benign/Likely benign rs34058554 GRCh37 Chromosome 20, 44671914: 44671914
11 SLC12A5 NM_001134771.1(SLC12A5): c.1049dup (p.Asn351Glnfs) duplication Pathogenic GRCh38 Chromosome 20, 46041454: 46041454
12 SLC12A5 NM_001134771.1(SLC12A5): c.1049dup (p.Asn351Glnfs) duplication Pathogenic GRCh37 Chromosome 20, 44670093: 44670093
13 SLC12A5 NM_020708.4(SLC12A5): c.1155C> T (p.Ile385=) single nucleotide variant Benign rs35804246 GRCh37 Chromosome 20, 44671880: 44671880
14 SLC12A5 NM_020708.4(SLC12A5): c.1155C> T (p.Ile385=) single nucleotide variant Benign rs35804246 GRCh38 Chromosome 20, 46043241: 46043241
15 SLC12A5 NM_020708.4(SLC12A5): c.2376T> C (p.Ile792=) single nucleotide variant Uncertain significance rs201525976 GRCh38 Chromosome 20, 46051869: 46051869
16 SLC12A5 NM_020708.4(SLC12A5): c.2376T> C (p.Ile792=) single nucleotide variant Uncertain significance rs201525976 GRCh37 Chromosome 20, 44680508: 44680508
17 SLC12A5 NM_020708.4(SLC12A5): c.2452C> G (p.Pro818Ala) single nucleotide variant Uncertain significance rs201268862 GRCh37 Chromosome 20, 44681670: 44681670
18 SLC12A5 NM_020708.4(SLC12A5): c.2452C> G (p.Pro818Ala) single nucleotide variant Uncertain significance rs201268862 GRCh38 Chromosome 20, 46053031: 46053031
19 SLC12A5 NM_020708.4(SLC12A5): c.482-5T> C single nucleotide variant Benign rs147042920 GRCh37 Chromosome 20, 44665889: 44665889
20 SLC12A5 NM_020708.4(SLC12A5): c.482-5T> C single nucleotide variant Benign rs147042920 GRCh38 Chromosome 20, 46037250: 46037250
21 SLC12A5 NM_020708.4(SLC12A5): c.534T> C (p.Gly178=) single nucleotide variant Benign rs3746519 GRCh38 Chromosome 20, 46037307: 46037307
22 SLC12A5 NM_020708.4(SLC12A5): c.534T> C (p.Gly178=) single nucleotide variant Benign rs3746519 GRCh37 Chromosome 20, 44665946: 44665946
23 SLC12A5 NM_020708.4(SLC12A5): c.1512G> A (p.Thr504=) single nucleotide variant Benign rs41282782 GRCh38 Chromosome 20, 46045083: 46045083
24 SLC12A5 NM_020708.4(SLC12A5): c.1512G> A (p.Thr504=) single nucleotide variant Benign rs41282782 GRCh37 Chromosome 20, 44673722: 44673722
25 SLC12A5 NM_020708.4(SLC12A5): c.2059G> T (p.Val687Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 46049668: 46049668
26 SLC12A5 NM_020708.4(SLC12A5): c.2059G> T (p.Val687Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 44678307: 44678307
27 SLC12A5 NM_020708.4(SLC12A5): c.2100A> G (p.Ala700=) single nucleotide variant Benign rs6032635 GRCh37 Chromosome 20, 44678348: 44678348
28 SLC12A5 NM_020708.4(SLC12A5): c.2100A> G (p.Ala700=) single nucleotide variant Benign rs6032635 GRCh38 Chromosome 20, 46049709: 46049709
29 SLC12A5 NM_020708.4(SLC12A5): c.355C> A (p.Arg119=) single nucleotide variant Benign rs3848724 GRCh38 Chromosome 20, 46035852: 46035852
30 SLC12A5 NM_020708.4(SLC12A5): c.355C> A (p.Arg119=) single nucleotide variant Benign rs3848724 GRCh37 Chromosome 20, 44664491: 44664491
31 SLC12A5 NM_020708.4(SLC12A5): c.694G> A (p.Val232Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 46040454: 46040454
32 SLC12A5 NM_020708.4(SLC12A5): c.694G> A (p.Val232Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 44669093: 44669093
33 SLC12A5 NM_020708.4(SLC12A5): c.851T> G (p.Phe284Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 44669250: 44669250
34 SLC12A5 NM_020708.4(SLC12A5): c.851T> G (p.Phe284Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 46040611: 46040611
35 SLC12A5 NM_020708.4(SLC12A5): c.942C> T (p.Thr314=) single nucleotide variant Likely benign rs143072268 GRCh38 Chromosome 20, 46041416: 46041416
36 SLC12A5 NM_020708.4(SLC12A5): c.942C> T (p.Thr314=) single nucleotide variant Likely benign rs143072268 GRCh37 Chromosome 20, 44670055: 44670055
37 SLC12A5 NM_020708.4(SLC12A5): c.1613T> C (p.Leu538Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 46045921: 46045921
38 SLC12A5 NM_020708.4(SLC12A5): c.1613T> C (p.Leu538Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 44674560: 44674560
39 SLC12A5 NM_020708.4(SLC12A5): c.2292G> T (p.Gly764=) single nucleotide variant Benign rs79522550 GRCh37 Chromosome 20, 44680424: 44680424
40 SLC12A5 NM_020708.4(SLC12A5): c.2292G> T (p.Gly764=) single nucleotide variant Benign rs79522550 GRCh38 Chromosome 20, 46051785: 46051785
41 SLC12A5 NM_020708.4(SLC12A5): c.2330G> A (p.Arg777His) single nucleotide variant Uncertain significance rs749336515 GRCh37 Chromosome 20, 44680462: 44680462
42 SLC12A5 NM_020708.4(SLC12A5): c.2330G> A (p.Arg777His) single nucleotide variant Uncertain significance rs749336515 GRCh38 Chromosome 20, 46051823: 46051823
43 SLC12A5 NM_020708.4(SLC12A5): c.3260-3C> A single nucleotide variant Uncertain significance rs762852631 GRCh37 Chromosome 20, 44686150: 44686150
44 SLC12A5 NM_020708.4(SLC12A5): c.3260-3C> A single nucleotide variant Uncertain significance rs762852631 GRCh38 Chromosome 20, 46057511: 46057511
45 SLC12A5 NM_020708.4(SLC12A5): c.273G> A (p.Pro91=) single nucleotide variant Likely benign rs183377866 GRCh37 Chromosome 20, 44664168: 44664168
46 SLC12A5 NM_020708.4(SLC12A5): c.273G> A (p.Pro91=) single nucleotide variant Likely benign rs183377866 GRCh38 Chromosome 20, 46035529: 46035529
47 SLC12A5 NM_020708.4(SLC12A5): c.1150C> G (p.Pro384Ala) single nucleotide variant Benign rs16985442 GRCh38 Chromosome 20, 46043236: 46043236
48 SLC12A5 NM_020708.4(SLC12A5): c.1150C> G (p.Pro384Ala) single nucleotide variant Benign rs16985442 GRCh37 Chromosome 20, 44671875: 44671875
49 SLC12A5 NM_020708.4(SLC12A5): c.1422C> T (p.Leu474=) single nucleotide variant Likely benign rs371872977 GRCh38 Chromosome 20, 46044993: 46044993
50 SLC12A5 NM_020708.4(SLC12A5): c.1422C> T (p.Leu474=) single nucleotide variant Likely benign rs371872977 GRCh37 Chromosome 20, 44673632: 44673632

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

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