EIEE42
MCID: EPL172
MIFTS: 23

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 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

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 generalized hypotonia 33 HP:0001290
12 athetosis 33 HP:0002305
13 esotropia 33 HP:0000565
14 epileptic encephalopathy 33 HP:0200134

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
athetosis
epileptic encephalopathy
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

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:

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 467)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1A NM_001127221.1(CACNA1A): c.6497G> A (p.Arg2166His) single nucleotide variant Uncertain significance rs727503832 GRCh37 Chromosome 19, 13320158: 13320158
2 CACNA1A NM_001127221.1(CACNA1A): c.6497G> A (p.Arg2166His) single nucleotide variant Uncertain significance rs727503832 GRCh38 Chromosome 19, 13209344: 13209344
3 CACNA1A NM_001127221.1(CACNA1A): c.4635C> T (p.Thr1545=) single nucleotide variant Benign/Likely benign rs150378053 GRCh37 Chromosome 19, 13366032: 13366032
4 CACNA1A NM_001127221.1(CACNA1A): c.4635C> T (p.Thr1545=) single nucleotide variant Benign/Likely benign rs150378053 GRCh38 Chromosome 19, 13255218: 13255218
5 CACNA1A NM_001127221.1(CACNA1A): c.2133C> G (p.Ala711=) single nucleotide variant Benign rs16017 GRCh37 Chromosome 19, 13414402: 13414402
6 CACNA1A NM_001127221.1(CACNA1A): c.2133C> G (p.Ala711=) single nucleotide variant Benign rs16017 GRCh38 Chromosome 19, 13303588: 13303588
7 CACNA1A NM_001127221.1(CACNA1A): c.3043G> A (p.Glu1015Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs16024 GRCh37 Chromosome 19, 13409407: 13409407
8 CACNA1A NM_001127221.1(CACNA1A): c.3043G> A (p.Glu1015Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs16024 GRCh38 Chromosome 19, 13298593: 13298593
9 CACNA1A NM_001127221.1(CACNA1A): c.3412C> G (p.Pro1138Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs199793367 GRCh37 Chromosome 19, 13397461: 13397461
10 CACNA1A NM_001127221.1(CACNA1A): c.3412C> G (p.Pro1138Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs199793367 GRCh38 Chromosome 19, 13286647: 13286647
11 CACNA1A NM_001127221.1(CACNA1A): c.3607_3609delAAG (p.Lys1203del) deletion Benign rs772989979 GRCh37 Chromosome 19, 13395968: 13395970
12 CACNA1A NM_001127221.1(CACNA1A): c.3607_3609delAAG (p.Lys1203del) deletion Benign rs772989979 GRCh38 Chromosome 19, 13285154: 13285156
13 CACNA1A NM_001127221.1(CACNA1A): c.3618_3620delGGA (p.Glu1207del) deletion Uncertain significance rs750826355 GRCh37 Chromosome 19, 13395957: 13395959
14 CACNA1A NM_001127221.1(CACNA1A): c.3618_3620delGGA (p.Glu1207del) deletion Uncertain significance rs750826355 GRCh38 Chromosome 19, 13285143: 13285145
15 CACNA1A NM_001127221.1(CACNA1A): c.4177G> A (p.Val1393Met) single nucleotide variant Conflicting interpretations of pathogenicity rs794727411 GRCh37 Chromosome 19, 13372340: 13372340
16 CACNA1A NM_001127221.1(CACNA1A): c.4177G> A (p.Val1393Met) single nucleotide variant Conflicting interpretations of pathogenicity rs794727411 GRCh38 Chromosome 19, 13261526: 13261526
17 CACNA1A NM_001127221.1(CACNA1A): c.5098G> A (p.Ala1700Thr) single nucleotide variant Uncertain significance rs371273055 GRCh37 Chromosome 19, 13346061: 13346061
18 CACNA1A NM_001127221.1(CACNA1A): c.5098G> A (p.Ala1700Thr) single nucleotide variant Uncertain significance rs371273055 GRCh38 Chromosome 19, 13235247: 13235247
19 CACNA1A NM_001127221.1(CACNA1A): c.6661_6662insACC (p.His2220_Pro2221insHis) insertion Conflicting interpretations of pathogenicity rs768950814 GRCh37 Chromosome 19, 13319691: 13319692
20 CACNA1A NM_001127221.1(CACNA1A): c.6661_6662insACC (p.His2220_Pro2221insHis) insertion Conflicting interpretations of pathogenicity rs768950814 GRCh38 Chromosome 19, 13208877: 13208878
21 CACNA1A NM_001127221.1(CACNA1A): c.1360G> A (p.Ala454Thr) single nucleotide variant Benign/Likely benign rs41276886 GRCh37 Chromosome 19, 13428124: 13428124
22 CACNA1A NM_001127221.1(CACNA1A): c.1360G> A (p.Ala454Thr) single nucleotide variant Benign/Likely benign rs41276886 GRCh38 Chromosome 19, 13317310: 13317310
23 CACNA1A NM_001127221.1(CACNA1A): c.2690C> G (p.Pro897Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908242 GRCh37 Chromosome 19, 13409760: 13409760
24 CACNA1A NM_001127221.1(CACNA1A): c.2690C> G (p.Pro897Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908242 GRCh38 Chromosome 19, 13298946: 13298946
25 CACNA1A NM_001127221.1(CACNA1A): c.4991G> A (p.Arg1664Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121908247 GRCh37 Chromosome 19, 13346507: 13346507
26 CACNA1A NM_001127221.1(CACNA1A): c.4991G> A (p.Arg1664Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121908247 GRCh38 Chromosome 19, 13235693: 13235693
27 CACNA1A NM_001127221.1(CACNA1A): c.6403C> T (p.Arg2135Cys) single nucleotide variant Uncertain significance rs121908235 GRCh37 Chromosome 19, 13320252: 13320252
28 CACNA1A NM_001127221.1(CACNA1A): c.6403C> T (p.Arg2135Cys) single nucleotide variant Uncertain significance rs121908235 GRCh38 Chromosome 19, 13209438: 13209438
29 CACNA1A NM_001127221.1(CACNA1A): c.5339G> A (p.Arg1780Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 13342588: 13342588
30 CACNA1A NM_001127221.1(CACNA1A): c.5339G> A (p.Arg1780Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 13231774: 13231774
31 CACNA1A NM_001127221.1(CACNA1A): c.5339G> A (p.Arg1780Gln) single nucleotide variant Uncertain significance NCBI36 Chromosome 19, 13203588: 13203588
32 CACNA1A NM_001127221.1(CACNA1A): c.1626G> A (p.Gly542=) single nucleotide variant Conflicting interpretations of pathogenicity rs375628894 GRCh37 Chromosome 19, 13423528: 13423528
33 CACNA1A NM_001127221.1(CACNA1A): c.1626G> A (p.Gly542=) single nucleotide variant Conflicting interpretations of pathogenicity rs375628894 GRCh38 Chromosome 19, 13312714: 13312714
34 CACNA1A NM_001127221.1(CACNA1A): c.3549C> T (p.Val1183=) single nucleotide variant Benign rs16029 GRCh37 Chromosome 19, 13397324: 13397324
35 CACNA1A NM_001127221.1(CACNA1A): c.3549C> T (p.Val1183=) single nucleotide variant Benign rs16029 GRCh38 Chromosome 19, 13286510: 13286510
36 CACNA1A NM_001127221.1(CACNA1A): c.6660T> C (p.His2220=) single nucleotide variant Benign rs16051 GRCh37 Chromosome 19, 13319693: 13319693
37 CACNA1A NM_001127221.1(CACNA1A): c.6660T> C (p.His2220=) single nucleotide variant Benign rs16051 GRCh38 Chromosome 19, 13208879: 13208879
38 CACNA1A NM_001127221.1(CACNA1A): c.1629G> A (p.Thr543=) single nucleotide variant Benign rs16011 GRCh37 Chromosome 19, 13423525: 13423525
39 CACNA1A NM_001127221.1(CACNA1A): c.1629G> A (p.Thr543=) single nucleotide variant Benign rs16011 GRCh38 Chromosome 19, 13312711: 13312711
40 CACNA1A NM_001127221.1(CACNA1A): c.1779C> G (p.Val593=) single nucleotide variant Benign rs16012 GRCh37 Chromosome 19, 13419235: 13419235
41 CACNA1A NM_001127221.1(CACNA1A): c.1779C> G (p.Val593=) single nucleotide variant Benign rs16012 GRCh38 Chromosome 19, 13308421: 13308421
42 CACNA1A NM_001127221.1(CACNA1A): c.2195A> C (p.Glu732Ala) single nucleotide variant Benign rs16019 GRCh37 Chromosome 19, 13411451: 13411451
43 CACNA1A NM_001127221.1(CACNA1A): c.2195A> C (p.Glu732Ala) single nucleotide variant Benign rs16019 GRCh38 Chromosome 19, 13300637: 13300637
44 CACNA1A NM_001127221.1(CACNA1A): c.2740C> T (p.Pro914Ser) single nucleotide variant Benign/Likely benign rs16020 GRCh37 Chromosome 19, 13409710: 13409710
45 CACNA1A NM_001127221.1(CACNA1A): c.2740C> T (p.Pro914Ser) single nucleotide variant Benign/Likely benign rs16020 GRCh38 Chromosome 19, 13298896: 13298896
46 CACNA1A NM_001127221.1(CACNA1A): c.2742C> T (p.Pro914=) single nucleotide variant Benign rs16021 GRCh37 Chromosome 19, 13409708: 13409708
47 CACNA1A NM_001127221.1(CACNA1A): c.2742C> T (p.Pro914=) single nucleotide variant Benign rs16021 GRCh38 Chromosome 19, 13298894: 13298894
48 CACNA1A NM_001127221.1(CACNA1A): c.3031C> G (p.Pro1011Ala) single nucleotide variant Benign rs28413664 GRCh37 Chromosome 19, 13409419: 13409419
49 CACNA1A NM_001127221.1(CACNA1A): c.3031C> G (p.Pro1011Ala) single nucleotide variant Benign rs28413664 GRCh38 Chromosome 19, 13298605: 13298605
50 CACNA1A NM_001127221.1(CACNA1A): c.3240C> T (p.Ala1080=) single nucleotide variant Benign rs16026 GRCh37 Chromosome 19, 13397633: 13397633

Expression for Epileptic Encephalopathy, Early Infantile, 42

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Pathways for Epileptic Encephalopathy, Early Infantile, 42

GO Terms for Epileptic Encephalopathy, Early Infantile, 42

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