EIEE42
MCID: EPL172
MIFTS: 25

Epileptic Encephalopathy, Early Infantile, 42 (EIEE42)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 42

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 42:

Name: Epileptic Encephalopathy, Early Infantile, 42 58 76 30 6
Eiee42 58 76
Early Infantile Epileptic Encephalopathy 42 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth or early infancy
most mutations occur de novo


HPO:

33
epileptic encephalopathy, early infantile, 42:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 42

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 42: 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. EIEE42 inheritance is autosomal dominant.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 42, is also known as eiee42. An important gene associated with Epileptic Encephalopathy, Early Infantile, 42 is CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A). Affiliated tissues include eye and liver, and related phenotypes are nystagmus and intellectual disability

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the CACNA1A gene on chromosome 19p13.

Description from OMIM: 617106

Related Diseases for Epileptic Encephalopathy, Early Infantile, 42

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 42

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 42:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 intellectual disability 33 HP:0001249
3 seizures 33 HP:0001250
4 ataxia 33 HP:0001251
5 tremor 33 HP:0001337
6 hyperreflexia 33 HP:0001347
7 eeg abnormality 33 HP:0002353
8 global developmental delay 33 HP:0001263
9 hypertonia 33 HP:0001276
10 flexion contracture 33 HP:0001371
11 epileptic encephalopathy 33 HP:0200134
12 generalized hypotonia 33 HP:0001290
13 athetosis 33 HP:0002305
14 esotropia 33 HP:0000565

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
strabismus
esotropia
abnormal eye movements

Muscle Soft Tissue:
hypertonia
hypotonia

Prenatal Manifestations Movement:
abnormal fetal movements

Neurologic Central Nervous System:
ataxia
tremor
hyperreflexia
epileptic encephalopathy
athetosis
more
Skeletal:
contractures

Clinical features from OMIM:

617106

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 42

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 42

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 42

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 42:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 42 30 CACNA1A

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 42

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 42:

42
Eye, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 42

Articles related to Epileptic Encephalopathy, Early Infantile, 42:

# Title Authors Year
1
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. ( 27476654 )
2016
2
De novo mutations in epileptic encephalopathies. ( 23934111 )
2013

Variations for Epileptic Encephalopathy, Early Infantile, 42

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 42:

76
# Symbol AA change Variation ID SNP ID
1 CACNA1A p.Glu101Gln VAR_077071 rs886037944
2 CACNA1A p.Ala712Thr VAR_077072 rs886037945
3 CACNA1A p.Trp1435Arg VAR_077073
4 CACNA1A p.Ala1507Ser VAR_077075 rs886037946

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 42:

6 (show top 50) (show all 489)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1A NM_001127221.1(CACNA1A): c.4636C> T (p.Arg1546Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909324 GRCh37 Chromosome 19, 13366031: 13366031
2 CACNA1A NM_001127221.1(CACNA1A): c.4636C> T (p.Arg1546Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909324 GRCh38 Chromosome 19, 13255217: 13255217
3 CACNA1A NM_001127221.1(CACNA1A): c.1360G> A (p.Ala454Thr) single nucleotide variant Benign/Likely benign rs41276886 GRCh37 Chromosome 19, 13428124: 13428124
4 CACNA1A NM_001127221.1(CACNA1A): c.1360G> A (p.Ala454Thr) single nucleotide variant Benign/Likely benign rs41276886 GRCh38 Chromosome 19, 13317310: 13317310
5 CACNA1A NM_001127221.1(CACNA1A): c.2690C> G (p.Pro897Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908242 GRCh37 Chromosome 19, 13409760: 13409760
6 CACNA1A NM_001127221.1(CACNA1A): c.2690C> G (p.Pro897Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908242 GRCh38 Chromosome 19, 13298946: 13298946
7 CACNA1A NM_001127221.1(CACNA1A): c.4991G> A (p.Arg1664Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121908247 GRCh37 Chromosome 19, 13346507: 13346507
8 CACNA1A NM_001127221.1(CACNA1A): c.4991G> A (p.Arg1664Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121908247 GRCh38 Chromosome 19, 13235693: 13235693
9 CACNA1A NM_001127221.1(CACNA1A): c.6403C> T (p.Arg2135Cys) single nucleotide variant Uncertain significance rs121908235 GRCh37 Chromosome 19, 13320252: 13320252
10 CACNA1A NM_001127221.1(CACNA1A): c.6403C> T (p.Arg2135Cys) single nucleotide variant Uncertain significance rs121908235 GRCh38 Chromosome 19, 13209438: 13209438
11 CACNA1A NM_001127221.1(CACNA1A): c.5339G> A (p.Arg1780Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 13342588: 13342588
12 CACNA1A NM_001127221.1(CACNA1A): c.5339G> A (p.Arg1780Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 13231774: 13231774
13 CACNA1A NM_001127221.1(CACNA1A): c.5339G> A (p.Arg1780Gln) single nucleotide variant Uncertain significance NCBI36 Chromosome 19, 13203588: 13203588
14 CACNA1A NM_001127221.1(CACNA1A): c.1626G> A (p.Gly542=) single nucleotide variant Conflicting interpretations of pathogenicity rs375628894 GRCh37 Chromosome 19, 13423528: 13423528
15 CACNA1A NM_001127221.1(CACNA1A): c.1626G> A (p.Gly542=) single nucleotide variant Conflicting interpretations of pathogenicity rs375628894 GRCh38 Chromosome 19, 13312714: 13312714
16 CACNA1A NM_001127221.1(CACNA1A): c.3549C> T (p.Val1183=) single nucleotide variant Benign rs16029 GRCh37 Chromosome 19, 13397324: 13397324
17 CACNA1A NM_001127221.1(CACNA1A): c.3549C> T (p.Val1183=) single nucleotide variant Benign rs16029 GRCh38 Chromosome 19, 13286510: 13286510
18 CACNA1A NM_001127221.1(CACNA1A): c.6660T> C (p.His2220=) single nucleotide variant Benign rs16051 GRCh37 Chromosome 19, 13319693: 13319693
19 CACNA1A NM_001127221.1(CACNA1A): c.6660T> C (p.His2220=) single nucleotide variant Benign rs16051 GRCh38 Chromosome 19, 13208879: 13208879
20 CACNA1A NM_001127221.1(CACNA1A): c.1629G> A (p.Thr543=) single nucleotide variant Benign rs16011 GRCh37 Chromosome 19, 13423525: 13423525
21 CACNA1A NM_001127221.1(CACNA1A): c.1629G> A (p.Thr543=) single nucleotide variant Benign rs16011 GRCh38 Chromosome 19, 13312711: 13312711
22 CACNA1A NM_001127221.1(CACNA1A): c.1779C> G (p.Val593=) single nucleotide variant Benign rs16012 GRCh37 Chromosome 19, 13419235: 13419235
23 CACNA1A NM_001127221.1(CACNA1A): c.1779C> G (p.Val593=) single nucleotide variant Benign rs16012 GRCh38 Chromosome 19, 13308421: 13308421
24 CACNA1A NM_001127221.1(CACNA1A): c.2195A> C (p.Glu732Ala) single nucleotide variant Benign rs16019 GRCh37 Chromosome 19, 13411451: 13411451
25 CACNA1A NM_001127221.1(CACNA1A): c.2195A> C (p.Glu732Ala) single nucleotide variant Benign rs16019 GRCh38 Chromosome 19, 13300637: 13300637
26 CACNA1A NM_001127221.1(CACNA1A): c.2740C> T (p.Pro914Ser) single nucleotide variant Benign/Likely benign rs16020 GRCh37 Chromosome 19, 13409710: 13409710
27 CACNA1A NM_001127221.1(CACNA1A): c.2740C> T (p.Pro914Ser) single nucleotide variant Benign/Likely benign rs16020 GRCh38 Chromosome 19, 13298896: 13298896
28 CACNA1A NM_001127221.1(CACNA1A): c.2742C> T (p.Pro914=) single nucleotide variant Benign rs16021 GRCh37 Chromosome 19, 13409708: 13409708
29 CACNA1A NM_001127221.1(CACNA1A): c.2742C> T (p.Pro914=) single nucleotide variant Benign rs16021 GRCh38 Chromosome 19, 13298894: 13298894
30 CACNA1A NM_001127221.1(CACNA1A): c.3031C> G (p.Pro1011Ala) single nucleotide variant Benign rs28413664 GRCh37 Chromosome 19, 13409419: 13409419
31 CACNA1A NM_001127221.1(CACNA1A): c.3031C> G (p.Pro1011Ala) single nucleotide variant Benign rs28413664 GRCh38 Chromosome 19, 13298605: 13298605
32 CACNA1A NM_001127221.1(CACNA1A): c.3240C> T (p.Ala1080=) single nucleotide variant Benign rs16026 GRCh37 Chromosome 19, 13397633: 13397633
33 CACNA1A NM_001127221.1(CACNA1A): c.3240C> T (p.Ala1080=) single nucleotide variant Benign rs16026 GRCh38 Chromosome 19, 13286819: 13286819
34 CACNA1A NM_001127221.1(CACNA1A): c.462C> T (p.Ala154=) single nucleotide variant Benign rs1800039 GRCh37 Chromosome 19, 13563767: 13563767
35 CACNA1A NM_001127221.1(CACNA1A): c.462C> T (p.Ala154=) single nucleotide variant Benign rs1800039 GRCh38 Chromosome 19, 13452953: 13452953
36 CACNA1A NM_001127221.1(CACNA1A): c.5742C> T (p.Ala1914=) single nucleotide variant Benign rs16044 GRCh37 Chromosome 19, 13325415: 13325415
37 CACNA1A NM_001127221.1(CACNA1A): c.5742C> T (p.Ala1914=) single nucleotide variant Benign rs16044 GRCh38 Chromosome 19, 13214601: 13214601
38 CACNA1A NM_001127221.1(CACNA1A): c.579G> A (p.Thr193=) single nucleotide variant Benign rs41276894 GRCh37 Chromosome 19, 13482554: 13482554
39 CACNA1A NM_001127221.1(CACNA1A): c.579G> A (p.Thr193=) single nucleotide variant Benign rs41276894 GRCh38 Chromosome 19, 13371740: 13371740
40 CACNA1A NM_001127221.1(CACNA1A): c.6345C> G (p.Thr2115=) single nucleotide variant Benign rs16049 GRCh37 Chromosome 19, 13320310: 13320310
41 CACNA1A NM_001127221.1(CACNA1A): c.6345C> G (p.Thr2115=) single nucleotide variant Benign rs16049 GRCh38 Chromosome 19, 13209496: 13209496
42 CACNA1A NM_001127221.1(CACNA1A): c.6381C> T (p.Ser2127=) single nucleotide variant Benign rs16050 GRCh37 Chromosome 19, 13320274: 13320274
43 CACNA1A NM_001127221.1(CACNA1A): c.6381C> T (p.Ser2127=) single nucleotide variant Benign rs16050 GRCh38 Chromosome 19, 13209460: 13209460
44 CACNA1A NM_001127221.1(CACNA1A): c.654G> C (p.Ser218=) single nucleotide variant Benign/Likely benign rs201991581 GRCh37 Chromosome 19, 13476261: 13476261
45 CACNA1A NM_001127221.1(CACNA1A): c.654G> C (p.Ser218=) single nucleotide variant Benign/Likely benign rs201991581 GRCh38 Chromosome 19, 13365447: 13365447
46 CACNA1A NM_001127221.1(CACNA1A): c.6497G> A (p.Arg2166His) single nucleotide variant Uncertain significance rs727503832 GRCh37 Chromosome 19, 13320158: 13320158
47 CACNA1A NM_001127221.1(CACNA1A): c.6497G> A (p.Arg2166His) single nucleotide variant Uncertain significance rs727503832 GRCh38 Chromosome 19, 13209344: 13209344
48 CACNA1A NM_001127221.1(CACNA1A): c.4635C> T (p.Thr1545=) single nucleotide variant Benign/Likely benign rs150378053 GRCh37 Chromosome 19, 13366032: 13366032
49 CACNA1A NM_001127221.1(CACNA1A): c.4635C> T (p.Thr1545=) single nucleotide variant Benign/Likely benign rs150378053 GRCh38 Chromosome 19, 13255218: 13255218
50 CACNA1A NM_001127221.1(CACNA1A): c.2133C> G (p.Ala711=) single nucleotide variant Benign rs16017 GRCh37 Chromosome 19, 13414402: 13414402

Expression for Epileptic Encephalopathy, Early Infantile, 42

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 42.

Pathways for Epileptic Encephalopathy, Early Infantile, 42

GO Terms for Epileptic Encephalopathy, Early Infantile, 42

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