EIEE39
MCID: EPL185
MIFTS: 31

Epileptic Encephalopathy, Early Infantile, 39 (EIEE39)

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, 39

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 39:

Name: Epileptic Encephalopathy, Early Infantile, 39 57 75
Hypomyelination, Global Cerebral 57 75 29 13 6 40 73
Agc1 Deficiency 57 12 59 75
Epileptic Encephalopathy with Global Cerebral Demyelination 12 59
Hereditary Central Nervous System Demyelinating Diseases 44 73
Mitochondrial Aspartate-Glutamate Carrier 1 Deficiency 12 59
Early Infantile Epileptic Encephalopathy 39 12 15
Aspartate-Glutamate Carrier 1 Deficiency 57 75
Global Cerebral Hypomyelination 75 37
Eiee39 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
two unrelated families have been reported (last curated july 2016)


HPO:

32
epileptic encephalopathy, early infantile, 39:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612949
Disease Ontology 12 DOID:0080349
Orphanet 59 ORPHA353217
ICD10 via Orphanet 34 G31.8
MedGen 42 C2751855
KEGG 37 H01305

Summaries for Epileptic Encephalopathy, Early Infantile, 39

UniProtKB/Swiss-Prot : 75 Epileptic encephalopathy, early infantile, 39: 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. EIEE39 is characterized by global hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. Inheritance is autosomal recessive.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 39, also known as hypomyelination, global cerebral, is related to epilepsy, and has symptoms including seizures and muscle spasticity. An important gene associated with Epileptic Encephalopathy, Early Infantile, 39 is SLC25A12 (Solute Carrier Family 25 Member 12), and among its related pathways/superpathways is Glucose / Energy Metabolism. Affiliated tissues include eye, liver and brain, and related phenotypes are seizures and spasticity

Disease Ontology : 12 An infantile epileptic encephalopathy that has material basis in mutation in the SLC25A12 gene on chromosome 2q31.

Description from OMIM: 612949

Related Diseases for Epileptic Encephalopathy, Early Infantile, 39

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

Diseases related to Epileptic Encephalopathy, Early Infantile, 39 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epilepsy 10.0

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 39

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
epileptic encephalopathy
delayed psychomotor development, profound
more
Muscle Soft Tissue:
hypotonia, severe

Laboratory Abnormalities:
increased plasma lactate

Head And Neck Eyes:
poor eye contact

Respiratory:
apneic spells


Clinical features from OMIM:

612949

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 39:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 spasticity 32 HP:0001257
3 hyperreflexia 32 HP:0001347
4 global developmental delay 32 HP:0001263
5 absent speech 32 HP:0001344
6 severe muscular hypotonia 32 HP:0006829
7 epileptic encephalopathy 32 HP:0200134
8 poor eye contact 32 HP:0000817
9 cerebral hypomyelination 32 HP:0006808

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 39:


seizures, muscle spasticity

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 39

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 39

Cochrane evidence based reviews: hereditary central nervous system demyelinating diseases

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 39

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 39:

# Genetic test Affiliating Genes
1 Hypomyelination, Global Cerebral 29 SLC25A12

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 39

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 39:

41
Eye, Liver, Brain

Publications for Epileptic Encephalopathy, Early Infantile, 39

Articles related to Epileptic Encephalopathy, Early Infantile, 39:

# Title Authors Year
1
ARALAR/AGC1 deficiency, a neurodevelopmental disorder with severe impairment of neuronal mitochondrial respiration, does not produce a primary increase in brain lactate. ( 28429368 )
2017
2
AGC1 deficiency causes infantile epilepsy, abnormal myelination, and reduced n-acetylaspartate. ( 24515575 )
2014
3
AGC1 deficiency associated with global cerebral hypomyelination. ( 19641205 )
2009

Variations for Epileptic Encephalopathy, Early Infantile, 39

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 39:

75
# Symbol AA change Variation ID SNP ID
1 SLC25A12 p.Gln590Arg VAR_063253 rs121434396
2 SLC25A12 p.Arg353Gln VAR_071976 rs886037851

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 39:

6 (show top 50) (show all 74)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A12 NM_003705.4(SLC25A12): c.1769A> G (p.Gln590Arg) single nucleotide variant Pathogenic rs121434396 GRCh37 Chromosome 2, 172644147: 172644147
2 SLC25A12 NM_003705.4(SLC25A12): c.1769A> G (p.Gln590Arg) single nucleotide variant Pathogenic rs121434396 GRCh38 Chromosome 2, 171787637: 171787637
3 SLC25A12 NM_003705.4(SLC25A12): c.728G> A (p.Arg243Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs35881803 GRCh37 Chromosome 2, 172691260: 172691260
4 SLC25A12 NM_003705.4(SLC25A12): c.728G> A (p.Arg243Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs35881803 GRCh38 Chromosome 2, 171834750: 171834750
5 SLC25A12 NM_003705.4(SLC25A12): c.1058G> A (p.Arg353Gln) single nucleotide variant Pathogenic rs886037851 GRCh38 Chromosome 2, 171813452: 171813452
6 SLC25A12 NM_003705.4(SLC25A12): c.1058G> A (p.Arg353Gln) single nucleotide variant Pathogenic rs886037851 GRCh37 Chromosome 2, 172669962: 172669962
7 SLC25A12 NM_003705.4(SLC25A12): c.*1281G> A single nucleotide variant Uncertain significance rs746811339 GRCh38 Chromosome 2, 171783993: 171783993
8 SLC25A12 NM_003705.4(SLC25A12): c.*1281G> A single nucleotide variant Uncertain significance rs746811339 GRCh37 Chromosome 2, 172640503: 172640503
9 SLC25A12 NM_003705.4(SLC25A12): c.*995G> A single nucleotide variant Uncertain significance rs886055122 GRCh38 Chromosome 2, 171784279: 171784279
10 SLC25A12 NM_003705.4(SLC25A12): c.*995G> A single nucleotide variant Uncertain significance rs886055122 GRCh37 Chromosome 2, 172640789: 172640789
11 SLC25A12 NM_003705.4(SLC25A12): c.*739G> C single nucleotide variant Likely benign rs11757 GRCh38 Chromosome 2, 171784535: 171784535
12 SLC25A12 NM_003705.4(SLC25A12): c.*739G> C single nucleotide variant Likely benign rs11757 GRCh37 Chromosome 2, 172641045: 172641045
13 SLC25A12 NM_003705.4(SLC25A12): c.1665G> A (p.Thr555=) single nucleotide variant Uncertain significance rs145746525 GRCh38 Chromosome 2, 171787868: 171787868
14 SLC25A12 NM_003705.4(SLC25A12): c.1665G> A (p.Thr555=) single nucleotide variant Uncertain significance rs145746525 GRCh37 Chromosome 2, 172644378: 172644378
15 SLC25A12 NM_003705.4(SLC25A12): c.1338A> C (p.Pro446=) single nucleotide variant Conflicting interpretations of pathogenicity rs149278617 GRCh38 Chromosome 2, 171793735: 171793735
16 SLC25A12 NM_003705.4(SLC25A12): c.1338A> C (p.Pro446=) single nucleotide variant Conflicting interpretations of pathogenicity rs149278617 GRCh37 Chromosome 2, 172650245: 172650245
17 SLC25A12 NM_003705.4(SLC25A12): c.99T> C (p.Tyr33=) single nucleotide variant Benign rs1878583 GRCh37 Chromosome 2, 172725301: 172725301
18 SLC25A12 NM_003705.4(SLC25A12): c.99T> C (p.Tyr33=) single nucleotide variant Benign rs1878583 GRCh38 Chromosome 2, 171868791: 171868791
19 SLC25A12 NM_003705.4(SLC25A12): c.13G> A (p.Val5Met) single nucleotide variant Uncertain significance rs201557997 GRCh37 Chromosome 2, 172749768: 172749768
20 SLC25A12 NM_003705.4(SLC25A12): c.13G> A (p.Val5Met) single nucleotide variant Uncertain significance rs201557997 GRCh38 Chromosome 2, 171893258: 171893258
21 SLC25A12 NM_003705.4(SLC25A12): c.*1251A> G single nucleotide variant Uncertain significance rs886055121 GRCh38 Chromosome 2, 171784023: 171784023
22 SLC25A12 NM_003705.4(SLC25A12): c.*1251A> G single nucleotide variant Uncertain significance rs886055121 GRCh37 Chromosome 2, 172640533: 172640533
23 SLC25A12 NM_003705.4(SLC25A12): c.*694G> C single nucleotide variant Uncertain significance rs113965617 GRCh38 Chromosome 2, 171784580: 171784580
24 SLC25A12 NM_003705.4(SLC25A12): c.*694G> C single nucleotide variant Uncertain significance rs113965617 GRCh37 Chromosome 2, 172641090: 172641090
25 SLC25A12 NM_003705.4(SLC25A12): c.*72T> A single nucleotide variant Uncertain significance rs779748917 GRCh38 Chromosome 2, 171785202: 171785202
26 SLC25A12 NM_003705.4(SLC25A12): c.*72T> A single nucleotide variant Uncertain significance rs779748917 GRCh37 Chromosome 2, 172641712: 172641712
27 SLC25A12 NM_003705.4(SLC25A12): c.1909G> A (p.Gly637Ser) single nucleotide variant Uncertain significance rs772668725 GRCh38 Chromosome 2, 171785402: 171785402
28 SLC25A12 NM_003705.4(SLC25A12): c.1909G> A (p.Gly637Ser) single nucleotide variant Uncertain significance rs772668725 GRCh37 Chromosome 2, 172641912: 172641912
29 SLC25A12 NM_003705.4(SLC25A12): c.1458G> A (p.Ala486=) single nucleotide variant Conflicting interpretations of pathogenicity rs142179562 GRCh38 Chromosome 2, 171791578: 171791578
30 SLC25A12 NM_003705.4(SLC25A12): c.1458G> A (p.Ala486=) single nucleotide variant Conflicting interpretations of pathogenicity rs142179562 GRCh37 Chromosome 2, 172648088: 172648088
31 SLC25A12 NM_003705.4(SLC25A12): c.-55C> T single nucleotide variant Uncertain significance rs886055126 GRCh37 Chromosome 2, 172750779: 172750779
32 SLC25A12 NM_003705.4(SLC25A12): c.-55C> T single nucleotide variant Uncertain significance rs886055126 GRCh38 Chromosome 2, 171894269: 171894269
33 SLC25A12 NM_003705.4(SLC25A12): c.-57_-56dupGC duplication Uncertain significance rs759200327 GRCh38 Chromosome 2, 171894270: 171894271
34 SLC25A12 NM_003705.4(SLC25A12): c.-57_-56dupGC duplication Uncertain significance rs759200327 GRCh37 Chromosome 2, 172750780: 172750781
35 SLC25A12 NM_003705.4(SLC25A12): c.*988C> T single nucleotide variant Uncertain significance rs138037221 GRCh37 Chromosome 2, 172640796: 172640796
36 SLC25A12 NM_003705.4(SLC25A12): c.*1050G> A single nucleotide variant Likely benign rs17499544 GRCh38 Chromosome 2, 171784224: 171784224
37 SLC25A12 NM_003705.4(SLC25A12): c.*1050G> A single nucleotide variant Likely benign rs17499544 GRCh37 Chromosome 2, 172640734: 172640734
38 SLC25A12 NM_003705.4(SLC25A12): c.*994C> T single nucleotide variant Uncertain significance rs189758490 GRCh38 Chromosome 2, 171784280: 171784280
39 SLC25A12 NM_003705.4(SLC25A12): c.*994C> T single nucleotide variant Uncertain significance rs189758490 GRCh37 Chromosome 2, 172640790: 172640790
40 SLC25A12 NM_003705.4(SLC25A12): c.*988C> T single nucleotide variant Uncertain significance rs138037221 GRCh38 Chromosome 2, 171784286: 171784286
41 SLC25A12 NM_003705.4(SLC25A12): c.*124G> A single nucleotide variant Uncertain significance rs13035825 GRCh38 Chromosome 2, 171785150: 171785150
42 SLC25A12 NM_003705.4(SLC25A12): c.*124G> A single nucleotide variant Uncertain significance rs13035825 GRCh37 Chromosome 2, 172641660: 172641660
43 SLC25A12 NM_003705.4(SLC25A12): c.1468C> T (p.Arg490Ter) single nucleotide variant Uncertain significance rs762189046 GRCh38 Chromosome 2, 171791568: 171791568
44 SLC25A12 NM_003705.4(SLC25A12): c.1468C> T (p.Arg490Ter) single nucleotide variant Uncertain significance rs762189046 GRCh37 Chromosome 2, 172648078: 172648078
45 SLC25A12 NM_003705.4(SLC25A12): c.1418G> A (p.Arg473Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs35565687 GRCh38 Chromosome 2, 171793655: 171793655
46 SLC25A12 NM_003705.4(SLC25A12): c.1418G> A (p.Arg473Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs35565687 GRCh37 Chromosome 2, 172650165: 172650165
47 SLC25A12 NM_003705.4(SLC25A12): c.466-3C> T single nucleotide variant Likely benign rs3765166 GRCh37 Chromosome 2, 172693780: 172693780
48 SLC25A12 NM_003705.4(SLC25A12): c.466-3C> T single nucleotide variant Likely benign rs3765166 GRCh38 Chromosome 2, 171837270: 171837270
49 SLC25A12 NM_003705.4(SLC25A12): c.189A> G (p.Val63=) single nucleotide variant Uncertain significance rs756682372 GRCh37 Chromosome 2, 172725211: 172725211
50 SLC25A12 NM_003705.4(SLC25A12): c.189A> G (p.Val63=) single nucleotide variant Uncertain significance rs756682372 GRCh38 Chromosome 2, 171868701: 171868701

Expression for Epileptic Encephalopathy, Early Infantile, 39

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 39.

Pathways for Epileptic Encephalopathy, Early Infantile, 39

Pathways related to Epileptic Encephalopathy, Early Infantile, 39 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.11 SLC25A12 UCP2

GO Terms for Epileptic Encephalopathy, Early Infantile, 39

Cellular components related to Epileptic Encephalopathy, Early Infantile, 39 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.13 MTCH1 SLC25A12 UCP2
2 mitochondrial inner membrane GO:0005743 8.8 MTCH1 SLC25A12 UCP2

Sources for Epileptic Encephalopathy, Early Infantile, 39

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
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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