EIEE42
MCID: EPL172
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 42 (EIEE42)

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, 42

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

Name: Epileptic Encephalopathy, Early Infantile, 42 57 75 29 6
Eiee42 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
epileptic encephalopathy, early infantile, 42:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 42

UniProtKB/Swiss-Prot : 75 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

Description from OMIM: 617106

Related Diseases for Epileptic Encephalopathy, Early Infantile, 42

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 42

Symptoms via clinical synopsis from OMIM:

57
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
athetosis
epileptic encephalopathy
more
Skeletal:
contractures


Clinical features from OMIM:

617106

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

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 ataxia 32 HP:0001251
5 tremor 32 HP:0001337
6 hyperreflexia 32 HP:0001347
7 eeg abnormality 32 HP:0002353
8 global developmental delay 32 HP:0001263
9 hypertonia 32 HP:0001276
10 flexion contracture 32 HP:0001371
11 generalized hypotonia 32 HP:0001290
12 athetosis 32 HP:0002305
13 esotropia 32 HP:0000565
14 epileptic encephalopathy 32 HP:0200134

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 29 CACNA1A

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 42

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

41
Eye, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 42

Variations for Epileptic Encephalopathy, Early Infantile, 42

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

75
# Symbol AA change Variation ID SNP ID
1 CACNA1A p.Glu101Gln VAR_077071
2 CACNA1A p.Ala712Thr VAR_077072
3 CACNA1A p.Trp1435Arg VAR_077073
4 CACNA1A p.Ala1507Ser VAR_077075

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

6 (show top 50) (show all 467)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1A NM_001127221.1(CACNA1A): c.1360G> A (p.Ala454Thr) single nucleotide variant Benign/Likely benign rs41276886 GRCh37 Chromosome 19, 13428124: 13428124
2 CACNA1A NM_001127221.1(CACNA1A): c.1360G> A (p.Ala454Thr) single nucleotide variant Benign/Likely benign rs41276886 GRCh38 Chromosome 19, 13317310: 13317310
3 CACNA1A NM_001127221.1(CACNA1A): c.2690C> G (p.Pro897Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908242 GRCh37 Chromosome 19, 13409760: 13409760
4 CACNA1A NM_001127221.1(CACNA1A): c.2690C> G (p.Pro897Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908242 GRCh38 Chromosome 19, 13298946: 13298946
5 CACNA1A NM_001127221.1(CACNA1A): c.4991G> A (p.Arg1664Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121908247 GRCh37 Chromosome 19, 13346507: 13346507
6 CACNA1A NM_001127221.1(CACNA1A): c.4991G> A (p.Arg1664Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121908247 GRCh38 Chromosome 19, 13235693: 13235693
7 CACNA1A NM_001127221.1(CACNA1A): c.6403C> T (p.Arg2135Cys) single nucleotide variant Uncertain significance rs121908235 GRCh37 Chromosome 19, 13320252: 13320252
8 CACNA1A NM_001127221.1(CACNA1A): c.6403C> T (p.Arg2135Cys) single nucleotide variant Uncertain significance rs121908235 GRCh38 Chromosome 19, 13209438: 13209438
9 CACNA1A NM_001127221.1(CACNA1A): c.5339G> A (p.Arg1780Gln) single nucleotide variant Uncertain significance rs267605294 GRCh37 Chromosome 19, 13342588: 13342588
10 CACNA1A NM_001127221.1(CACNA1A): c.5339G> A (p.Arg1780Gln) single nucleotide variant Uncertain significance rs267605294 GRCh38 Chromosome 19, 13231774: 13231774
11 CACNA1A NM_001127221.1(CACNA1A): c.5339G> A (p.Arg1780Gln) single nucleotide variant Uncertain significance rs267605294 NCBI36 Chromosome 19, 13203588: 13203588
12 CACNA1A NM_001127221.1(CACNA1A): c.1626G> A (p.Gly542=) single nucleotide variant Conflicting interpretations of pathogenicity rs375628894 GRCh37 Chromosome 19, 13423528: 13423528
13 CACNA1A NM_001127221.1(CACNA1A): c.1626G> A (p.Gly542=) single nucleotide variant Conflicting interpretations of pathogenicity rs375628894 GRCh38 Chromosome 19, 13312714: 13312714
14 CACNA1A NM_001127221.1(CACNA1A): c.3549C> T (p.Val1183=) single nucleotide variant Benign rs16029 GRCh37 Chromosome 19, 13397324: 13397324
15 CACNA1A NM_001127221.1(CACNA1A): c.3549C> T (p.Val1183=) single nucleotide variant Benign rs16029 GRCh38 Chromosome 19, 13286510: 13286510
16 CACNA1A NM_001127221.1(CACNA1A): c.6660T> C (p.His2220=) single nucleotide variant Benign rs16051 GRCh37 Chromosome 19, 13319693: 13319693
17 CACNA1A NM_001127221.1(CACNA1A): c.6660T> C (p.His2220=) single nucleotide variant Benign rs16051 GRCh38 Chromosome 19, 13208879: 13208879
18 CACNA1A NM_001127221.1(CACNA1A): c.1629G> A (p.Thr543=) single nucleotide variant Benign rs16011 GRCh37 Chromosome 19, 13423525: 13423525
19 CACNA1A NM_001127221.1(CACNA1A): c.1629G> A (p.Thr543=) single nucleotide variant Benign rs16011 GRCh38 Chromosome 19, 13312711: 13312711
20 CACNA1A NM_001127221.1(CACNA1A): c.1779C> G (p.Val593=) single nucleotide variant Benign rs16012 GRCh37 Chromosome 19, 13419235: 13419235
21 CACNA1A NM_001127221.1(CACNA1A): c.1779C> G (p.Val593=) single nucleotide variant Benign rs16012 GRCh38 Chromosome 19, 13308421: 13308421
22 CACNA1A NM_001127221.1(CACNA1A): c.2195A> C (p.Glu732Ala) single nucleotide variant Benign rs16019 GRCh37 Chromosome 19, 13411451: 13411451
23 CACNA1A NM_001127221.1(CACNA1A): c.2195A> C (p.Glu732Ala) single nucleotide variant Benign rs16019 GRCh38 Chromosome 19, 13300637: 13300637
24 CACNA1A NM_001127221.1(CACNA1A): c.2740C> T (p.Pro914Ser) single nucleotide variant Benign/Likely benign rs16020 GRCh37 Chromosome 19, 13409710: 13409710
25 CACNA1A NM_001127221.1(CACNA1A): c.2740C> T (p.Pro914Ser) single nucleotide variant Benign/Likely benign rs16020 GRCh38 Chromosome 19, 13298896: 13298896
26 CACNA1A NM_001127221.1(CACNA1A): c.2742C> T (p.Pro914=) single nucleotide variant Benign rs16021 GRCh37 Chromosome 19, 13409708: 13409708
27 CACNA1A NM_001127221.1(CACNA1A): c.2742C> T (p.Pro914=) single nucleotide variant Benign rs16021 GRCh38 Chromosome 19, 13298894: 13298894
28 CACNA1A NM_001127221.1(CACNA1A): c.3031C> G (p.Pro1011Ala) single nucleotide variant Benign rs28413664 GRCh37 Chromosome 19, 13409419: 13409419
29 CACNA1A NM_001127221.1(CACNA1A): c.3031C> G (p.Pro1011Ala) single nucleotide variant Benign rs28413664 GRCh38 Chromosome 19, 13298605: 13298605
30 CACNA1A NM_001127221.1(CACNA1A): c.3240C> T (p.Ala1080=) single nucleotide variant Benign rs16026 GRCh37 Chromosome 19, 13397633: 13397633
31 CACNA1A NM_001127221.1(CACNA1A): c.3240C> T (p.Ala1080=) single nucleotide variant Benign rs16026 GRCh38 Chromosome 19, 13286819: 13286819
32 CACNA1A NM_001127221.1(CACNA1A): c.462C> T (p.Ala154=) single nucleotide variant Benign rs1800039 GRCh37 Chromosome 19, 13563767: 13563767
33 CACNA1A NM_001127221.1(CACNA1A): c.462C> T (p.Ala154=) single nucleotide variant Benign rs1800039 GRCh38 Chromosome 19, 13452953: 13452953
34 CACNA1A NM_001127221.1(CACNA1A): c.5742C> T (p.Ala1914=) single nucleotide variant Benign rs16044 GRCh37 Chromosome 19, 13325415: 13325415
35 CACNA1A NM_001127221.1(CACNA1A): c.5742C> T (p.Ala1914=) single nucleotide variant Benign rs16044 GRCh38 Chromosome 19, 13214601: 13214601
36 CACNA1A NM_001127221.1(CACNA1A): c.579G> A (p.Thr193=) single nucleotide variant Benign rs41276894 GRCh37 Chromosome 19, 13482554: 13482554
37 CACNA1A NM_001127221.1(CACNA1A): c.579G> A (p.Thr193=) single nucleotide variant Benign rs41276894 GRCh38 Chromosome 19, 13371740: 13371740
38 CACNA1A NM_001127221.1(CACNA1A): c.6345C> G (p.Thr2115=) single nucleotide variant Benign rs16049 GRCh37 Chromosome 19, 13320310: 13320310
39 CACNA1A NM_001127221.1(CACNA1A): c.6345C> G (p.Thr2115=) single nucleotide variant Benign rs16049 GRCh38 Chromosome 19, 13209496: 13209496
40 CACNA1A NM_001127221.1(CACNA1A): c.6381C> T (p.Ser2127=) single nucleotide variant Benign rs16050 GRCh37 Chromosome 19, 13320274: 13320274
41 CACNA1A NM_001127221.1(CACNA1A): c.6381C> T (p.Ser2127=) single nucleotide variant Benign rs16050 GRCh38 Chromosome 19, 13209460: 13209460
42 CACNA1A NM_001127221.1(CACNA1A): c.654G> C (p.Ser218=) single nucleotide variant Benign/Likely benign rs201991581 GRCh37 Chromosome 19, 13476261: 13476261
43 CACNA1A NM_001127221.1(CACNA1A): c.654G> C (p.Ser218=) single nucleotide variant Benign/Likely benign rs201991581 GRCh38 Chromosome 19, 13365447: 13365447
44 CACNA1A NM_001127221.1(CACNA1A): c.6497G> A (p.Arg2166His) single nucleotide variant Uncertain significance rs727503832 GRCh37 Chromosome 19, 13320158: 13320158
45 CACNA1A NM_001127221.1(CACNA1A): c.6497G> A (p.Arg2166His) single nucleotide variant Uncertain significance rs727503832 GRCh38 Chromosome 19, 13209344: 13209344
46 CACNA1A NM_001127221.1(CACNA1A): c.4635C> T (p.Thr1545=) single nucleotide variant Benign/Likely benign rs150378053 GRCh37 Chromosome 19, 13366032: 13366032
47 CACNA1A NM_001127221.1(CACNA1A): c.4635C> T (p.Thr1545=) single nucleotide variant Benign/Likely benign rs150378053 GRCh38 Chromosome 19, 13255218: 13255218
48 CACNA1A NM_001127221.1(CACNA1A): c.2133C> G (p.Ala711=) single nucleotide variant Benign rs16017 GRCh37 Chromosome 19, 13414402: 13414402
49 CACNA1A NM_001127221.1(CACNA1A): c.2133C> G (p.Ala711=) single nucleotide variant Benign rs16017 GRCh38 Chromosome 19, 13303588: 13303588
50 CACNA1A NM_001127221.1(CACNA1A): c.3043G> A (p.Glu1015Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs16024 GRCh37 Chromosome 19, 13409407: 13409407

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

Sources for Epileptic Encephalopathy, Early Infantile, 42

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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....