MCID: EPL028
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 5

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, 5

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 5:

Name: Epileptic Encephalopathy, Early Infantile, 5 57 75 13 73
Early Infantile Epileptic Encephalopathy 5 29 6
Eiee5 57 75
Encephalopathy, Epileptic, Early Infantile, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
variable severity


HPO:

32
epileptic encephalopathy, early infantile, 5:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 5

UniProtKB/Swiss-Prot : 75 Epileptic encephalopathy, early infantile, 5: A disorder characterized by seizures associated with hypsarrhythmia, profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 5, is also known as early infantile epileptic encephalopathy 5. An important gene associated with Epileptic Encephalopathy, Early Infantile, 5 is SPTAN1 (Spectrin Alpha, Non-Erythrocytic 1). Affiliated tissues include brain, and related phenotypes are progressive microcephaly and seizures

Description from OMIM: 613477

Related Diseases for Epileptic Encephalopathy, Early Infantile, 5

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, 5

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
cerebellar atrophy
cerebral atrophy
hypsarrhythmia
hypotonia
more
Head And Neck Eyes:
no visual attention
coloboma-like optic discs (1 patient)

Head And Neck Head:
microcephaly, progressive (in some patients)


Clinical features from OMIM:

613477

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 5:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 progressive microcephaly 32 frequent (33%) HP:0000253
2 seizures 32 HP:0001250
3 cerebellar atrophy 32 HP:0001272
4 generalized hypotonia 32 HP:0001290
5 hyperreflexia 32 HP:0001347
6 cerebral atrophy 32 HP:0002059
7 hypoplasia of the corpus callosum 32 HP:0002079
8 intellectual disability, profound 32 HP:0002187
9 spastic tetraplegia 32 HP:0002510
10 hypsarrhythmia 32 HP:0002521
11 cns hypomyelination 32 HP:0003429
12 atrophy/degeneration affecting the brainstem 32 HP:0007366
13 intellectual disability, severe 32 HP:0010864
14 epileptic encephalopathy 32 HP:0200134

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 5

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 5

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 5

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 5:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 5 29 SPTAN1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 5

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 5:

41
Brain

Publications for Epileptic Encephalopathy, Early Infantile, 5

Variations for Epileptic Encephalopathy, Early Infantile, 5

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 5:

6
(show top 50) (show all 55)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPTAN1 SPTAN1, 6-BP DUP, NT6923 duplication Pathogenic
2 SPTAN1 NM_001130438.2(SPTAN1): c.6605_6607delAGC (p.Gln2202del) deletion Pathogenic rs398122865 GRCh37 Chromosome 9, 131389693: 131389695
3 SPTAN1 NM_001130438.2(SPTAN1): c.6605_6607delAGC (p.Gln2202del) deletion Pathogenic rs398122865 GRCh38 Chromosome 9, 128627414: 128627416
4 SPTAN1 NM_001130438.2(SPTAN1): c.1389C> T (p.Tyr463=) single nucleotide variant Uncertain significance rs587784431 GRCh37 Chromosome 9, 131343266: 131343266
5 SPTAN1 NM_001130438.2(SPTAN1): c.1389C> T (p.Tyr463=) single nucleotide variant Uncertain significance rs587784431 GRCh38 Chromosome 9, 128580987: 128580987
6 SPTAN1 NM_001130438.2(SPTAN1): c.1603C> A (p.Gln535Lys) single nucleotide variant Uncertain significance rs79650677 GRCh37 Chromosome 9, 131344788: 131344788
7 SPTAN1 NM_001130438.2(SPTAN1): c.1603C> A (p.Gln535Lys) single nucleotide variant Uncertain significance rs79650677 GRCh38 Chromosome 9, 128582509: 128582509
8 SPTAN1 NM_001130438.2(SPTAN1): c.1677C> G (p.His559Gln) single nucleotide variant Uncertain significance rs587784432 GRCh37 Chromosome 9, 131344999: 131344999
9 SPTAN1 NM_001130438.2(SPTAN1): c.1677C> G (p.His559Gln) single nucleotide variant Uncertain significance rs587784432 GRCh38 Chromosome 9, 128582720: 128582720
10 SPTAN1 NM_001130438.2(SPTAN1): c.1697G> A (p.Arg566Gln) single nucleotide variant Uncertain significance rs370304886 GRCh37 Chromosome 9, 131345019: 131345019
11 SPTAN1 NM_001130438.2(SPTAN1): c.1697G> A (p.Arg566Gln) single nucleotide variant Uncertain significance rs370304886 GRCh38 Chromosome 9, 128582740: 128582740
12 SPTAN1 NM_001130438.2(SPTAN1): c.2064G> A (p.Glu688=) single nucleotide variant Uncertain significance rs587784433 GRCh37 Chromosome 9, 131346119: 131346119
13 SPTAN1 NM_001130438.2(SPTAN1): c.2064G> A (p.Glu688=) single nucleotide variant Uncertain significance rs587784433 GRCh38 Chromosome 9, 128583840: 128583840
14 SPTAN1 NM_001130438.2(SPTAN1): c.2438-13T> G single nucleotide variant Uncertain significance rs587784434 GRCh37 Chromosome 9, 131346987: 131346987
15 SPTAN1 NM_001130438.2(SPTAN1): c.2438-13T> G single nucleotide variant Uncertain significance rs587784434 GRCh38 Chromosome 9, 128584708: 128584708
16 SPTAN1 NM_001130438.2(SPTAN1): c.2674G> T (p.Ala892Ser) single nucleotide variant Uncertain significance rs587784435 GRCh37 Chromosome 9, 131348140: 131348140
17 SPTAN1 NM_001130438.2(SPTAN1): c.2674G> T (p.Ala892Ser) single nucleotide variant Uncertain significance rs587784435 GRCh38 Chromosome 9, 128585861: 128585861
18 SPTAN1 NM_001130438.2(SPTAN1): c.2889G> A (p.Thr963=) single nucleotide variant Conflicting interpretations of pathogenicity rs34654141 GRCh37 Chromosome 9, 131351105: 131351105
19 SPTAN1 NM_001130438.2(SPTAN1): c.2889G> A (p.Thr963=) single nucleotide variant Conflicting interpretations of pathogenicity rs34654141 GRCh38 Chromosome 9, 128588826: 128588826
20 SPTAN1 NM_001130438.2(SPTAN1): c.3193C> T (p.Arg1065Cys) single nucleotide variant Uncertain significance rs587784436 GRCh37 Chromosome 9, 131355299: 131355299
21 SPTAN1 NM_001130438.2(SPTAN1): c.3193C> T (p.Arg1065Cys) single nucleotide variant Uncertain significance rs587784436 GRCh38 Chromosome 9, 128593020: 128593020
22 SPTAN1 NM_001130438.2(SPTAN1): c.3415-9G> T single nucleotide variant Conflicting interpretations of pathogenicity rs199802986 GRCh37 Chromosome 9, 131360670: 131360670
23 SPTAN1 NM_001130438.2(SPTAN1): c.3415-9G> T single nucleotide variant Conflicting interpretations of pathogenicity rs199802986 GRCh38 Chromosome 9, 128598391: 128598391
24 SPTAN1 NM_001130438.2(SPTAN1): c.3899T> C (p.Ile1300Thr) single nucleotide variant Uncertain significance rs1048236 GRCh37 Chromosome 9, 131367609: 131367609
25 SPTAN1 NM_001130438.2(SPTAN1): c.3899T> C (p.Ile1300Thr) single nucleotide variant Uncertain significance rs1048236 GRCh38 Chromosome 9, 128605330: 128605330
26 SPTAN1 NM_001130438.2(SPTAN1): c.4199A> T (p.Gln1400Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143108250 GRCh37 Chromosome 9, 131370183: 131370183
27 SPTAN1 NM_001130438.2(SPTAN1): c.4199A> T (p.Gln1400Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143108250 GRCh38 Chromosome 9, 128607904: 128607904
28 SPTAN1 NM_001130438.2(SPTAN1): c.5023T> A (p.Phe1675Ile) single nucleotide variant Uncertain significance rs1129924 GRCh37 Chromosome 9, 131374505: 131374505
29 SPTAN1 NM_001130438.2(SPTAN1): c.5023T> A (p.Phe1675Ile) single nucleotide variant Uncertain significance rs1129924 GRCh38 Chromosome 9, 128612226: 128612226
30 SPTAN1 NM_001130438.2(SPTAN1): c.5149-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs587784437 GRCh37 Chromosome 9, 131377901: 131377901
31 SPTAN1 NM_001130438.2(SPTAN1): c.5149-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs587784437 GRCh38 Chromosome 9, 128615622: 128615622
32 SPTAN1 NM_001130438.2(SPTAN1): c.5981A> G (p.Glu1994Gly) single nucleotide variant Uncertain significance rs11543346 GRCh37 Chromosome 9, 131386755: 131386755
33 SPTAN1 NM_001130438.2(SPTAN1): c.5981A> G (p.Glu1994Gly) single nucleotide variant Uncertain significance rs11543346 GRCh38 Chromosome 9, 128624476: 128624476
34 SPTAN1 NM_001130438.2(SPTAN1): c.6498C> A (p.Arg2166=) single nucleotide variant Conflicting interpretations of pathogenicity rs72758823 GRCh37 Chromosome 9, 131388888: 131388888
35 SPTAN1 NM_001130438.2(SPTAN1): c.6498C> A (p.Arg2166=) single nucleotide variant Conflicting interpretations of pathogenicity rs72758823 GRCh38 Chromosome 9, 128626609: 128626609
36 SPTAN1 NM_001130438.2(SPTAN1): c.6619_6621delGAG (p.Glu2207del) deletion Pathogenic rs587784438 GRCh37 Chromosome 9, 131389707: 131389709
37 SPTAN1 NM_001130438.2(SPTAN1): c.6619_6621delGAG (p.Glu2207del) deletion Pathogenic rs587784438 GRCh38 Chromosome 9, 128627428: 128627430
38 SPTAN1 NM_001130438.2(SPTAN1): c.6763-7C> T single nucleotide variant Uncertain significance rs587784439 GRCh37 Chromosome 9, 131394399: 131394399
39 SPTAN1 NM_001130438.2(SPTAN1): c.6763-7C> T single nucleotide variant Uncertain significance rs587784439 GRCh38 Chromosome 9, 128632120: 128632120
40 SPTAN1 NM_001130438.2(SPTAN1): c.6908_6916dupACCAGCTGG (p.Leu2305_Gly2306insAspGlnLeu) duplication Pathogenic rs587784440 GRCh37 Chromosome 9, 131394551: 131394559
41 SPTAN1 NM_001130438.2(SPTAN1): c.6908_6916dupACCAGCTGG (p.Leu2305_Gly2306insAspGlnLeu) duplication Pathogenic rs587784440 GRCh38 Chromosome 9, 128632272: 128632280
42 SPTAN1 NM_001130438.2(SPTAN1): c.7309-15T> C single nucleotide variant Uncertain significance rs370705867 GRCh37 Chromosome 9, 131395473: 131395473
43 SPTAN1 NM_001130438.2(SPTAN1): c.7309-15T> C single nucleotide variant Uncertain significance rs370705867 GRCh38 Chromosome 9, 128633194: 128633194
44 SPTAN1 NM_001130438.2(SPTAN1): c.4283C> G (p.Ala1428Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143166100 GRCh37 Chromosome 9, 131370267: 131370267
45 SPTAN1 NM_001130438.2(SPTAN1): c.4283C> G (p.Ala1428Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143166100 GRCh38 Chromosome 9, 128607988: 128607988
46 SPTAN1 NM_001130438.2(SPTAN1): c.6943C> G (p.Gln2315Glu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 9, 131394586: 131394586
47 SPTAN1 NM_001130438.2(SPTAN1): c.6943C> G (p.Gln2315Glu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 9, 128632307: 128632307
48 SPTAN1 NM_001130438.2(SPTAN1): c.5391C> G (p.Tyr1797Ter) single nucleotide variant Uncertain significance rs146418243 GRCh38 Chromosome 9, 128617673: 128617673
49 SPTAN1 NM_001130438.2(SPTAN1): c.5391C> G (p.Tyr1797Ter) single nucleotide variant Uncertain significance rs146418243 GRCh37 Chromosome 9, 131379952: 131379952
50 SPTAN1 NM_003127.3(SPTAN1): c.433C> G (p.Leu145Val) single nucleotide variant Uncertain significance rs754419719 GRCh37 Chromosome 9, 131337023: 131337023

Expression for Epileptic Encephalopathy, Early Infantile, 5

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 5.

Pathways for Epileptic Encephalopathy, Early Infantile, 5

GO Terms for Epileptic Encephalopathy, Early Infantile, 5

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