EIEE25
MCID: EPL231
MIFTS: 20

Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis Imperfecta (EIEE25)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis...

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis Imperfecta:

Name: Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis Imperfecta 58
Epileptic Encephalopathy, Early Infantile, 25 58 76 30 6
Eiee25 58 54 76
Early Infantile Epileptic Encephalopathy 25 12 54
Encephalopathy, Epileptic, Early Infantile, Type 25 41
Slc13a5 Deficiency 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in the first hours or days of life
seizures are poorly responsive to treatment
ketogenic diet may be effective
seizure severity and frequency tend to improve with age


HPO:

33
epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis...

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 25: A disease characterized by seizures appearing in the first days of life, subclinical epileptic status, and recognizable EEG patterns with bilateral, multifocal status epilepticus. Patients have profound or severe delayed development with lack of speech, and most patients do not acquire the ability to sit. Additional variable features include axial hypotonia, peripheral hypertonia, and abnormal involuntary movements such as dystonia and choreoathetosis.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis Imperfecta, is also known as epileptic encephalopathy, early infantile, 25, and has symptoms including ataxia, muscle spasticity and tonic seizures. An important gene associated with Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis Imperfecta is SLC13A5 (Solute Carrier Family 13 Member 5). Related phenotypes are ataxia and spasticity

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13.

Description from OMIM: 615905

Related Diseases for Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis...

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis...

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis Imperfecta:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 ataxia 33 HP:0001251
2 spasticity 33 HP:0001257
3 global developmental delay 33 HP:0001263
4 microcephaly 33 HP:0000252
5 status epilepticus 33 HP:0002133
6 hypodontia 33 HP:0000668
7 involuntary movements 33 HP:0004305
8 generalized hypotonia 33 HP:0001290
9 epileptic encephalopathy 33 HP:0200134
10 muscular hypotonia of the trunk 33 HP:0008936
11 multifocal seizures 33 HP:0031165

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
spasticity
status epilepticus
epileptic encephalopathy
delayed myelination
more
Head And Neck Teeth:
hypodontia
amelogenesis imperfecta, hypoplastic
hypoplastic enamel
delayed eruption
worn molars
more
Head And Neck Head:
microcephaly

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

615905

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis Imperfecta:


ataxia, muscle spasticity, tonic seizures

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis...

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis Imperfecta

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis...

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis Imperfecta:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 25 30 SLC13A5

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis...

Publications for Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis...

Variations for Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis...

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis Imperfecta:

76
# Symbol AA change Variation ID SNP ID
1 SLC13A5 p.Thr142Met VAR_078912 rs761917087
2 SLC13A5 p.Gly219Arg VAR_078913
3 SLC13A5 p.Thr227Met VAR_078914 rs587777577
4 SLC13A5 p.Ser427Leu VAR_078916 rs548065551
5 SLC13A5 p.Leu488Pro VAR_078917 rs587777578
6 SLC13A5 p.Asp524His VAR_078918 rs863225448

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis Imperfecta:

6 (show top 50) (show all 129)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC13A5 NM_177550.4(SLC13A5): c.1280C> T (p.Ser427Leu) single nucleotide variant Pathogenic rs548065551 GRCh37 Chromosome 17, 6594255: 6594255
2 SLC13A5 NM_177550.4(SLC13A5): c.1280C> T (p.Ser427Leu) single nucleotide variant Pathogenic rs548065551 GRCh38 Chromosome 17, 6690936: 6690936
3 SLC13A5 NM_177550.4(SLC13A5): c.1022G> A (p.Trp341Ter) single nucleotide variant Pathogenic rs150203483 GRCh38 Chromosome 17, 6695759: 6695759
4 SLC13A5 NM_177550.4(SLC13A5): c.1022G> A (p.Trp341Ter) single nucleotide variant Pathogenic rs150203483 GRCh37 Chromosome 17, 6599078: 6599078
5 SLC13A5 NM_177550.4(SLC13A5): c.1207_1217dup (p.Pro407Argfs) duplication Pathogenic rs863225447 GRCh37 Chromosome 17, 6596421: 6596431
6 SLC13A5 NM_177550.4(SLC13A5): c.1207_1217dup (p.Pro407Argfs) duplication Pathogenic rs863225447 GRCh38 Chromosome 17, 6693102: 6693112
7 SLC13A5 NM_177550.4(SLC13A5): c.425C> T (p.Thr142Met) single nucleotide variant Likely pathogenic rs761917087 GRCh38 Chromosome 17, 6704000: 6704000
8 SLC13A5 NM_177550.4(SLC13A5): c.425C> T (p.Thr142Met) single nucleotide variant Likely pathogenic rs761917087 GRCh37 Chromosome 17, 6607319: 6607319
9 SLC13A5 NM_177550.4(SLC13A5): c.1570G> C (p.Asp524His) single nucleotide variant Pathogenic rs863225448 GRCh37 Chromosome 17, 6590853: 6590853
10 SLC13A5 NM_177550.4(SLC13A5): c.1570G> C (p.Asp524His) single nucleotide variant Pathogenic rs863225448 GRCh38 Chromosome 17, 6687534: 6687534
11 SLC13A5 NM_177550.4(SLC13A5): c.655G> A (p.Gly219Arg) single nucleotide variant Pathogenic rs144332569 GRCh37 Chromosome 17, 6606350: 6606350
12 SLC13A5 NM_177550.4(SLC13A5): c.655G> A (p.Gly219Arg) single nucleotide variant Pathogenic rs144332569 GRCh38 Chromosome 17, 6703031: 6703031
13 SLC13A5 NM_177550.4(SLC13A5): c.680C> T (p.Thr227Met) single nucleotide variant Uncertain significance rs587777577 GRCh37 Chromosome 17, 6606325: 6606325
14 SLC13A5 NM_177550.4(SLC13A5): c.680C> T (p.Thr227Met) single nucleotide variant Uncertain significance rs587777577 GRCh38 Chromosome 17, 6703006: 6703006
15 SLC13A5 NM_177550.4(SLC13A5): c.1463T> C (p.Leu488Pro) single nucleotide variant Pathogenic rs587777578 GRCh37 Chromosome 17, 6590960: 6590960
16 SLC13A5 NM_177550.4(SLC13A5): c.1463T> C (p.Leu488Pro) single nucleotide variant Pathogenic rs587777578 GRCh38 Chromosome 17, 6687641: 6687641
17 SLC13A5 NM_177550.4(SLC13A5): c.997C> T (p.Arg333Ter) single nucleotide variant Pathogenic rs773770609 GRCh37 Chromosome 17, 6599103: 6599103
18 SLC13A5 NM_177550.4(SLC13A5): c.997C> T (p.Arg333Ter) single nucleotide variant Pathogenic rs773770609 GRCh38 Chromosome 17, 6695784: 6695784
19 SLC13A5 NM_177550.4(SLC13A5): c.1475T> C (p.Leu492Pro) single nucleotide variant Pathogenic rs1057519449 GRCh37 Chromosome 17, 6590948: 6590948
20 SLC13A5 NM_177550.4(SLC13A5): c.1475T> C (p.Leu492Pro) single nucleotide variant Pathogenic rs1057519449 GRCh38 Chromosome 17, 6687629: 6687629
21 SLC13A5 NM_177550.4(SLC13A5): c.1372G> A (p.Val458Met) single nucleotide variant Conflicting interpretations of pathogenicity rs372801738 GRCh38 Chromosome 17, 6690844: 6690844
22 SLC13A5 NM_177550.4(SLC13A5): c.1372G> A (p.Val458Met) single nucleotide variant Conflicting interpretations of pathogenicity rs372801738 GRCh37 Chromosome 17, 6594163: 6594163
23 SLC13A5 NM_177550.4(SLC13A5): c.1095C> G (p.Thr365=) single nucleotide variant Likely benign rs139660928 GRCh37 Chromosome 17, 6597477: 6597477
24 SLC13A5 NM_177550.4(SLC13A5): c.1095C> G (p.Thr365=) single nucleotide variant Likely benign rs139660928 GRCh38 Chromosome 17, 6694158: 6694158
25 SLC13A5 NM_177550.4(SLC13A5): c.801C> T (p.Phe267=) single nucleotide variant Benign/Likely benign rs200645836 GRCh37 Chromosome 17, 6604361: 6604361
26 SLC13A5 NM_177550.4(SLC13A5): c.801C> T (p.Phe267=) single nucleotide variant Benign/Likely benign rs200645836 GRCh38 Chromosome 17, 6701042: 6701042
27 SLC13A5 NM_177550.4(SLC13A5): c.1395C> T (p.Asn465=) single nucleotide variant Benign/Likely benign rs150722760 GRCh37 Chromosome 17, 6594140: 6594140
28 SLC13A5 NM_177550.4(SLC13A5): c.1395C> T (p.Asn465=) single nucleotide variant Benign/Likely benign rs150722760 GRCh38 Chromosome 17, 6690821: 6690821
29 SLC13A5 NM_177550.4(SLC13A5): c.1101A> G (p.Leu367=) single nucleotide variant Benign/Likely benign rs61520357 GRCh37 Chromosome 17, 6597471: 6597471
30 SLC13A5 NM_177550.4(SLC13A5): c.1101A> G (p.Leu367=) single nucleotide variant Benign/Likely benign rs61520357 GRCh38 Chromosome 17, 6694152: 6694152
31 SLC13A5 NM_177550.4(SLC13A5): c.690C> T (p.Asn230=) single nucleotide variant Likely benign rs146385318 GRCh37 Chromosome 17, 6606315: 6606315
32 SLC13A5 NM_177550.4(SLC13A5): c.690C> T (p.Asn230=) single nucleotide variant Likely benign rs146385318 GRCh38 Chromosome 17, 6702996: 6702996
33 SLC13A5 NM_177550.4(SLC13A5): c.582G> A (p.Gly194=) single nucleotide variant Likely benign rs147260918 GRCh37 Chromosome 17, 6606423: 6606423
34 SLC13A5 NM_177550.4(SLC13A5): c.582G> A (p.Gly194=) single nucleotide variant Likely benign rs147260918 GRCh38 Chromosome 17, 6703104: 6703104
35 SLC13A5 NM_177550.4(SLC13A5): c.201C> T (p.Phe67=) single nucleotide variant Likely benign rs900258843 GRCh37 Chromosome 17, 6610377: 6610377
36 SLC13A5 NM_177550.4(SLC13A5): c.201C> T (p.Phe67=) single nucleotide variant Likely benign rs900258843 GRCh38 Chromosome 17, 6707058: 6707058
37 SLC13A5 NM_177550.4(SLC13A5): c.1584A> G (p.Thr528=) single nucleotide variant Likely benign rs764993670 GRCh37 Chromosome 17, 6589649: 6589649
38 SLC13A5 NM_177550.4(SLC13A5): c.1584A> G (p.Thr528=) single nucleotide variant Likely benign rs764993670 GRCh38 Chromosome 17, 6686330: 6686330
39 SLC13A5 NM_177550.4(SLC13A5): c.1438-4G> A single nucleotide variant Likely benign rs901014442 GRCh37 Chromosome 17, 6590989: 6590989
40 SLC13A5 NM_177550.4(SLC13A5): c.1438-4G> A single nucleotide variant Likely benign rs901014442 GRCh38 Chromosome 17, 6687670: 6687670
41 SLC13A5 NM_177550.4(SLC13A5): c.1156+9C> T single nucleotide variant Likely benign rs201530285 GRCh38 Chromosome 17, 6694088: 6694088
42 SLC13A5 NM_177550.4(SLC13A5): c.1156+9C> T single nucleotide variant Likely benign rs201530285 GRCh37 Chromosome 17, 6597407: 6597407
43 SLC13A5 NM_177550.4(SLC13A5): c.231+6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs138834680 GRCh37 Chromosome 17, 6610341: 6610341
44 SLC13A5 NM_177550.4(SLC13A5): c.231+6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs138834680 GRCh38 Chromosome 17, 6707022: 6707022
45 SLC13A5 NM_177550.4(SLC13A5): c.144C> T (p.Tyr48=) single nucleotide variant Likely benign rs138537951 GRCh37 Chromosome 17, 6610434: 6610434
46 SLC13A5 NM_177550.4(SLC13A5): c.144C> T (p.Tyr48=) single nucleotide variant Likely benign rs138537951 GRCh38 Chromosome 17, 6707115: 6707115
47 SLC13A5 NM_177550.4(SLC13A5): c.1461G> A (p.Pro487=) single nucleotide variant Likely benign rs374067396 GRCh37 Chromosome 17, 6590962: 6590962
48 SLC13A5 NM_177550.4(SLC13A5): c.1461G> A (p.Pro487=) single nucleotide variant Likely benign rs374067396 GRCh38 Chromosome 17, 6687643: 6687643
49 SLC13A5 NM_177550.4(SLC13A5): c.681G> A (p.Thr227=) single nucleotide variant Likely benign rs139698810 GRCh37 Chromosome 17, 6606324: 6606324
50 SLC13A5 NM_177550.4(SLC13A5): c.681G> A (p.Thr227=) single nucleotide variant Likely benign rs139698810 GRCh38 Chromosome 17, 6703005: 6703005

Expression for Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis...

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