EIEE34
MCID: EPL159
MIFTS: 26

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 57 74
Early Infantile Epileptic Encephalopathy 34 12 29 6
Eiee34 57 74

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:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080460
MeSH 44 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 34

UniProtKB/Swiss-Prot : 74 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). 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 : 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 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
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76

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

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 slc12a5-related epilepsy of infancy with migrating focal seizures 11.3

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 34

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

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

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

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

Articles related to Epileptic Encephalopathy, Early Infantile, 34:

(showing 4, show less)
# Title Authors PMID Year
1
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. 8 71
26333769 2015
2
SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures 71
30763027 2019
3
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
4
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 34

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

6 (showing 100, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC12A5 NM_001134771.2(SLC12A5): c.1049dup (p.Asn351fs) duplication Pathogenic rs1555863593 20:44670093-44670093 20:46041454-46041454
2 SLC12A5 NM_001134771.2(SLC12A5): c.775_776TG[2] (p.Val260fs) short repeat Pathogenic rs1555863145 20:44669109-44669110 20:46040470-46040471
3 SLC12A5 NM_001134771.2(SLC12A5): c.1036T> C (p.Ser346Pro) single nucleotide variant Pathogenic 20:44670080-44670080 20:46041441-46041441
4 SLC12A5 NM_001134771.2(SLC12A5): c.348+1G> C single nucleotide variant Pathogenic 20:44664175-44664175 20:46035536-46035536
5 SLC12A5 NM_001134771.2(SLC12A5): c.641C> T (p.Ala214Val) single nucleotide variant Pathogenic 20:44665984-44665984 20:46037345-46037345
6 SLC12A5 NM_001134771.2(SLC12A5): c.1022G> C (p.Trp341Ser) single nucleotide variant Pathogenic 20:44670066-44670066 20:46041427-46041427
7 SLC12A5 NM_001134771.2(SLC12A5): c.1196C> T (p.Ser399Leu) single nucleotide variant Pathogenic 20:44671852-44671852 20:46043213-46043213
8 SLC12A5 NM_001134771.2(SLC12A5): c.1312A> G (p.Met438Val) single nucleotide variant Pathogenic 20:44672277-44672277 20:46043638-46043638
9 SLC12A5 NM_001134771.2(SLC12A5): c.2308_2310TCC[1] (p.Ser771del) short repeat Pathogenic 20:44680374-44680376 20:46051735-46051737
10 SLC12A5 NM_001134771.2(SLC12A5): c.2639G> T (p.Arg880Leu) single nucleotide variant Pathogenic 20:44682239-44682239 20:46053600-46053600
11 SLC12A5 NM_001134771.2(SLC12A5): c.184G> T (p.Glu62Ter) single nucleotide variant Pathogenic 20:44663649-44663649 20:46035010-46035010
12 SLC12A5 NM_001134771.2(SLC12A5): c.1277T> C (p.Leu426Pro) single nucleotide variant Pathogenic rs863225304 20:44671933-44671933 20:46043294-46043294
13 SLC12A5 NM_001134771.2(SLC12A5): c.1652G> A (p.Gly551Asp) single nucleotide variant Pathogenic rs863225305 20:44674530-44674530 20:46045891-46045891
14 SLC12A5 NM_001134771.2(SLC12A5): c.932T> A (p.Leu311His) single nucleotide variant Pathogenic rs863225306 20:44669976-44669976 20:46041337-46041337
15 SLC12A5 NM_001134771.2(SLC12A5): c.3343G> A (p.Glu1115Lys) single nucleotide variant Likely pathogenic rs1555868402 20:44686167-44686167 20:46057528-46057528
16 SLC12A5 NM_001134771.2(SLC12A5): c.1375A> G (p.Ile459Val) single nucleotide variant Uncertain significance rs140326431 20:44672340-44672340 20:46043701-46043701
17 SLC12A5 NM_001134771.2(SLC12A5): c.1682T> C (p.Leu561Pro) single nucleotide variant Uncertain significance rs1555865050 20:44674560-44674560 20:46045921-46045921
18 SLC12A5 NM_001134771.2(SLC12A5): c.3179+4C> T single nucleotide variant Uncertain significance rs781152138 20:44685207-44685207 20:46056568-46056568
19 SLC12A5 NM_001134771.2(SLC12A5): c.2909C> G (p.Ala970Gly) single nucleotide variant Uncertain significance rs199934904 20:44684841-44684841 20:46056202-46056202
20 SLC12A5 NM_001134771.2(SLC12A5): c.761G> A (p.Arg254His) single nucleotide variant Uncertain significance rs1555863134 20:44669091-44669091 20:46040452-46040452
21 SLC12A5 NM_001134771.2(SLC12A5): c.2445T> C (p.Ile815=) single nucleotide variant Uncertain significance rs201525976 20:44680508-44680508 20:46051869-46051869
22 SLC12A5 NM_001134771.2(SLC12A5): c.2521C> G (p.Pro841Ala) single nucleotide variant Uncertain significance rs201268862 20:44681670-44681670 20:46053031-46053031
23 SLC12A5 NM_001134771.2(SLC12A5): c.2128G> T (p.Val710Leu) single nucleotide variant Uncertain significance rs1175869873 20:44678307-44678307 20:46049668-46049668
24 SLC12A5 NM_001134771.2(SLC12A5): c.763G> A (p.Val255Ile) single nucleotide variant Uncertain significance rs1555863136 20:44669093-44669093 20:46040454-46040454
25 SLC12A5 NM_001134771.2(SLC12A5): c.920T> G (p.Phe307Cys) single nucleotide variant Uncertain significance rs1213597825 20:44669250-44669250 20:46040611-46040611
26 SLC12A5 NM_001134771.2(SLC12A5): c.2399G> A (p.Arg800His) single nucleotide variant Uncertain significance rs749336515 20:44680462-44680462 20:46051823-46051823
27 SLC12A5 NM_001134771.2(SLC12A5): c.3329-3C> A single nucleotide variant Uncertain significance rs762852631 20:44686150-44686150 20:46057511-46057511
28 SLC12A5 NM_001134771.2(SLC12A5): c.341C> T (p.Pro114Leu) single nucleotide variant Uncertain significance 20:44664167-44664167 20:46035528-46035528
29 SLC12A5 NM_001134771.2(SLC12A5): c.355C> T (p.Arg119Cys) single nucleotide variant Uncertain significance 20:44664422-44664422 20:46035783-46035783
30 SLC12A5 NM_001134771.2(SLC12A5): c.935T> G (p.Leu312Arg) single nucleotide variant Uncertain significance 20:44669979-44669979 20:46041340-46041340
31 SLC12A5 NM_001134771.2(SLC12A5): c.956G> A (p.Arg319His) single nucleotide variant Uncertain significance 20:44670000-44670000 20:46041361-46041361
32 SLC12A5 NM_001134771.2(SLC12A5): c.1006G> A (p.Val336Met) single nucleotide variant Uncertain significance 20:44670050-44670050 20:46041411-46041411
33 SLC12A5 NM_001134771.2(SLC12A5): c.1006G> T (p.Val336Leu) single nucleotide variant Uncertain significance 20:44670050-44670050 20:46041411-46041411
34 SLC12A5 NM_001134771.2(SLC12A5): c.1217C> T (p.Thr406Ile) single nucleotide variant Uncertain significance 20:44671873-44671873 20:46043234-46043234
35 SLC12A5 NM_001134771.2(SLC12A5): c.1402G> A (p.Val468Ile) single nucleotide variant Uncertain significance 20:44672367-44672367 20:46043728-46043728
36 SLC12A5 NM_001134771.2(SLC12A5): c.1903A> G (p.Ile635Val) single nucleotide variant Uncertain significance 20:44676139-44676139 20:46047500-46047500
37 SLC12A5 NM_001134771.2(SLC12A5): c.2188G> C (p.Val730Leu) single nucleotide variant Uncertain significance 20:44678367-44678367 20:46049728-46049728
38 SLC12A5 NM_001134771.2(SLC12A5): c.2429C> T (p.Thr810Met) single nucleotide variant Uncertain significance 20:44680492-44680492 20:46051853-46051853
39 SLC12A5 NM_001134771.2(SLC12A5): c.2444T> A (p.Ile815Asn) single nucleotide variant Uncertain significance 20:44680507-44680507 20:46051868-46051868
40 SLC12A5 NM_001134771.2(SLC12A5): c.2444T> C (p.Ile815Thr) single nucleotide variant Uncertain significance 20:44680507-44680507 20:46051868-46051868
41 SLC12A5 NM_001134771.2(SLC12A5): c.2734G> A (p.Glu912Lys) single nucleotide variant Uncertain significance 20:44682334-44682334 20:46053695-46053695
42 SLC12A5 NM_001134771.2(SLC12A5): c.2923C> T (p.Arg975Cys) single nucleotide variant Uncertain significance 20:44684855-44684855 20:46056216-46056216
43 SLC12A5 NM_001134771.2(SLC12A5): c.2931C> A (p.Asn977Lys) single nucleotide variant Uncertain significance 20:44684863-44684863 20:46056224-46056224
44 SLC12A5 NM_001134771.2(SLC12A5): c.2954A> G (p.Asp985Gly) single nucleotide variant Uncertain significance 20:44684886-44684886 20:46056247-46056247
45 SLC12A5 NM_001134771.2(SLC12A5): c.2962G> C (p.Glu988Gln) single nucleotide variant Uncertain significance 20:44684894-44684894 20:46056255-46056255
46 SLC12A5 NM_001134771.2(SLC12A5): c.3004G> A (p.Ala1002Thr) single nucleotide variant Uncertain significance 20:44685028-44685028 20:46056389-46056389
47 SLC12A5 NM_001134771.2(SLC12A5): c.3032C> T (p.Ser1011Phe) single nucleotide variant Uncertain significance 20:44685056-44685056 20:46056417-46056417
48 SLC12A5 NM_001134771.2(SLC12A5): c.3211C> T (p.Arg1071Trp) single nucleotide variant Uncertain significance 20:44685825-44685825 20:46057186-46057186
49 SLC12A5 NM_001134771.2(SLC12A5): c.3268G> A (p.Ala1090Thr) single nucleotide variant Uncertain significance 20:44685882-44685882 20:46057243-46057243
50 SLC12A5 NM_001134771.2(SLC12A5): c.1464-3C> T single nucleotide variant Uncertain significance 20:44673602-44673602 20:46044963-46044963
51 SLC12A5 NM_001134771.2(SLC12A5): c.122-3C> T single nucleotide variant Uncertain significance 20:44663584-44663584 20:46034945-46034945
52 SLC12A5 NM_001134771.2(SLC12A5): c.2856+3G> A single nucleotide variant Uncertain significance 20:44683665-44683665 20:46055026-46055026
53 SLC12A5 NM_001134771.2(SLC12A5): c.2508G> A (p.Met836Ile) single nucleotide variant Uncertain significance rs200191107 20:44681657-44681657 20:46053018-46053018
54 SLC12A5 NM_001134771.2(SLC12A5): c.1168G> A (p.Val390Met) single nucleotide variant Uncertain significance rs778801242 20:44671824-44671824 20:46043185-46043185
55 SLC12A5 NM_001134771.2(SLC12A5): c.2024C> T (p.Ala675Val) single nucleotide variant Uncertain significance rs1555865828 20:44676667-44676667 20:46048028-46048028
56 SLC12A5 NM_001134771.2(SLC12A5): c.2471G> A (p.Gly824Asp) single nucleotide variant Uncertain significance rs1555867242 20:44681620-44681620 20:46052981-46052981
57 SLC12A5 NM_001134771.2(SLC12A5): c.3195-6C> A single nucleotide variant Uncertain significance rs372120376 20:44685803-44685803 20:46057164-46057164
58 SLC12A5 NM_001134771.2(SLC12A5): c.1129A> G (p.Ile377Val) single nucleotide variant Uncertain significance 20:44670173-44670173 20:46041534-46041534
59 SLC12A5 NM_001134771.2(SLC12A5): c.2234C> T (p.Ala745Val) single nucleotide variant Uncertain significance 20:44678413-44678413 20:46049774-46049774
60 SLC12A5 NM_001134771.2(SLC12A5): c.3247A> G (p.Ile1083Val) single nucleotide variant Uncertain significance 20:44685861-44685861 20:46057222-46057222
61 SLC12A5 NM_001134771.2(SLC12A5): c.122-5586G> A single nucleotide variant Uncertain significance 20:44658001-44658001 20:46029362-46029362
62 SLC12A5 NM_001134771.2(SLC12A5): c.1167C> T (p.Gly389=) single nucleotide variant Uncertain significance 20:44671823-44671823 20:46043184-46043184
63 SLC12A5 NM_001134771.2(SLC12A5): c.2212T> C (p.Phe738Leu) single nucleotide variant Uncertain significance 20:44678391-44678391 20:46049752-46049752
64 SLC12A5 NM_001134771.2(SLC12A5): c.3002G> A (p.Ser1001Asn) single nucleotide variant Uncertain significance 20:44685026-44685026 20:46056387-46056387
65 SLC12A5 NM_001134771.2(SLC12A5): c.122-5552G> A single nucleotide variant Uncertain significance 20:44658035-44658035 20:46029396-46029396
66 SLC12A5 NM_001134771.2(SLC12A5): c.409G> A (p.Val137Ile) single nucleotide variant Uncertain significance 20:44664476-44664476 20:46035837-46035837
67 SLC12A5 NM_001134771.2(SLC12A5): c.1016G> A (p.Arg339Gln) single nucleotide variant Uncertain significance 20:44670060-44670060 20:46041421-46041421
68 SLC12A5 NM_001134771.2(SLC12A5): c.1225G> A (p.Asp409Asn) single nucleotide variant Uncertain significance 20:44671881-44671881 20:46043242-46043242
69 SLC12A5 NM_001134771.2(SLC12A5): c.1450G> A (p.Val484Ile) single nucleotide variant Uncertain significance 20:44672559-44672559 20:46043920-46043920
70 SLC12A5 NM_001134771.2(SLC12A5): c.2845C> T (p.Arg949Trp) single nucleotide variant Uncertain significance 20:44683651-44683651 20:46055012-46055012
71 SLC12A5 NM_001134771.2(SLC12A5): c.3225G> A (p.Thr1075=) single nucleotide variant Uncertain significance 20:44685839-44685839 20:46057200-46057200
72 SLC12A5 NM_001134771.2(SLC12A5): c.3297G> A (p.Gly1099=) single nucleotide variant Likely benign rs767829797 20:44685911-44685911 20:46057272-46057272
73 SLC12A5 NM_001134771.2(SLC12A5): c.2757C> T (p.Ser919=) single nucleotide variant Likely benign rs561222589 20:44683563-44683563 20:46054924-46054924
74 SLC12A5 NM_001134771.2(SLC12A5): c.1272C> T (p.Thr424=) single nucleotide variant Likely benign rs1357953426 20:44671928-44671928 20:46043289-46043289
75 SLC12A5 NM_001134771.2(SLC12A5): c.1857-9C> T single nucleotide variant Likely benign rs773585521 20:44676084-44676084 20:46047445-46047445
76 SLC12A5 NM_001134771.2(SLC12A5): c.342G> A (p.Pro114=) single nucleotide variant Likely benign rs183377866 20:44664168-44664168 20:46035529-46035529
77 SLC12A5 NM_001134771.2(SLC12A5): c.1011C> T (p.Thr337=) single nucleotide variant Likely benign rs143072268 20:44670055-44670055 20:46041416-46041416
78 SLC12A5 NM_001134771.2(SLC12A5): c.2154C> T (p.Thr718=) single nucleotide variant Likely benign rs747468488 20:44678333-44678333 20:46049694-46049694
79 SLC12A5 NM_001134771.2(SLC12A5): c.1749C> T (p.Ile583=) single nucleotide variant Likely benign rs752463505 20:44674627-44674627 20:46045988-46045988
80 SLC12A5 NM_001134771.2(SLC12A5): c.1018C> T (p.Leu340=) single nucleotide variant Likely benign rs775678070 20:44670062-44670062 20:46041423-46041423
81 SLC12A5 NM_001134771.2(SLC12A5): c.2616+8G> T single nucleotide variant Likely benign rs1555867366 20:44681773-44681773 20:46053134-46053134
82 SLC12A5 NM_001134771.2(SLC12A5): c.3195-3dup duplication Likely benign rs767708918 20:44685806-44685806 20:46057167-46057167
83 SLC12A5 NM_001134771.2(SLC12A5): c.1491C> T (p.Leu497=) single nucleotide variant Likely benign rs371872977 20:44673632-44673632 20:46044993-46044993
84 SLC12A5 NM_001134771.2(SLC12A5): c.2749-3C> T single nucleotide variant Likely benign rs141933171 20:44683552-44683552 20:46054913-46054913
85 SLC12A5 NM_001134771.2(SLC12A5): c.1258A> T (p.Thr420Ser) single nucleotide variant Benign/Likely benign rs34058554 20:44671914-44671914 20:46043275-46043275
86 SLC12A5 NM_001134771.2(SLC12A5): c.2187C> T (p.Ile729=) single nucleotide variant Benign rs3746521 20:44678366-44678366 20:46049727-46049727
87 SLC12A5 NM_001134771.2(SLC12A5): c.2081+3T> A single nucleotide variant Benign rs12481488 20:44676727-44676727 20:46048088-46048088
88 SLC12A5 NM_001134771.2(SLC12A5): c.2472C> T (p.Gly824=) single nucleotide variant Benign rs35981087 20:44681621-44681621 20:46052982-46052982
89 SLC12A5 NM_001134771.2(SLC12A5): c.2361G> T (p.Gly787=) single nucleotide variant Benign rs79522550 20:44680424-44680424 20:46051785-46051785
90 SLC12A5 NM_001134771.2(SLC12A5): c.165C> T (p.Thr55=) single nucleotide variant Benign rs143969641 20:44663630-44663630 20:46034991-46034991
91 SLC12A5 NM_001134771.2(SLC12A5): c.1500C> T (p.Gly500=) single nucleotide variant Benign rs538711126 20:44673641-44673641 20:46045002-46045002
92 SLC12A5 NM_001134771.2(SLC12A5): c.1764C> T (p.Phe588=) single nucleotide variant Benign rs41282784 20:44674983-44674983 20:46046344-46046344
93 SLC12A5 NM_001134771.2(SLC12A5): c.2169= (p.Ala723=) single nucleotide variant Benign rs6032635 20:44678348-44678348 20:46049709-46049709
94 SLC12A5 NM_001134771.2(SLC12A5): c.424C> A (p.Arg142=) single nucleotide variant Benign rs3848724 20:44664491-44664491 20:46035852-46035852
95 SLC12A5 NM_001134771.2(SLC12A5): c.1219C> G (p.Pro407Ala) single nucleotide variant Benign rs16985442 20:44671875-44671875 20:46043236-46043236
96 SLC12A5 NM_001134771.2(SLC12A5): c.551-5T> C single nucleotide variant Benign rs147042920 20:44665889-44665889 20:46037250-46037250
97 SLC12A5 NM_001134771.2(SLC12A5): c.603T> C (p.Gly201=) single nucleotide variant Benign rs3746519 20:44665946-44665946 20:46037307-46037307
98 SLC12A5 NM_001134771.2(SLC12A5): c.1581G> A (p.Thr527=) single nucleotide variant Benign rs41282782 20:44673722-44673722 20:46045083-46045083
99 SLC12A5 NM_001134771.2(SLC12A5): c.1224C> T (p.Ile408=) single nucleotide variant Benign rs35804246 20:44671880-44671880 20:46043241-46043241
100 SLC12A5 NM_001134771.2(SLC12A5): c.2924G> A (p.Arg975His) single nucleotide variant Benign rs142740233 20:44684856-44684856 20:46056217-46056217

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

74 (showing 3, show less)
# 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 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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