MCID: EPL172
MIFTS: 21

Epileptic Encephalopathy, Early Infantile, 42

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, 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 related phenotypes are esotropia and nystagmus

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

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.Ala713Thr VAR_077072
3 CACNA1A p.Trp1436Arg VAR_077073
4 CACNA1A p.Ala1508Ser VAR_077075

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

6
(show top 50) (show all 296)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1A NM_001127221.1(CACNA1A): c.4991G> A (p.Arg1664Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908247 GRCh37 Chromosome 19, 13346507: 13346507
2 CACNA1A NM_001127221.1(CACNA1A): c.4991G> A (p.Arg1664Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908247 GRCh38 Chromosome 19, 13235693: 13235693
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.6661_6662insACC (p.His2220_Pro2221insHis) insertion Conflicting interpretations of pathogenicity rs764972478 GRCh37 Chromosome 19, 13319691: 13319692
18 CACNA1A NM_001127221.1(CACNA1A): c.6661_6662insACC (p.His2220_Pro2221insHis) insertion Conflicting interpretations of pathogenicity rs764972478 GRCh38 Chromosome 19, 13208877: 13208878
19 CACNA1A NM_001127221.1(CACNA1A): c.301G> C (p.Glu101Gln) single nucleotide variant Pathogenic rs886037944 GRCh37 Chromosome 19, 13566019: 13566019
20 CACNA1A NM_001127221.1(CACNA1A): c.301G> C (p.Glu101Gln) single nucleotide variant Pathogenic rs886037944 GRCh38 Chromosome 19, 13455205: 13455205
21 CACNA1A NM_001127221.1(CACNA1A): c.2137G> A (p.Ala713Thr) single nucleotide variant Pathogenic/Likely pathogenic rs886037945 GRCh37 Chromosome 19, 13414398: 13414398
22 CACNA1A NM_001127221.1(CACNA1A): c.2137G> A (p.Ala713Thr) single nucleotide variant Pathogenic/Likely pathogenic rs886037945 GRCh38 Chromosome 19, 13303584: 13303584
23 CACNA1A NM_001127221.1(CACNA1A): c.4522G> T (p.Ala1508Ser) single nucleotide variant Pathogenic rs886037946 GRCh37 Chromosome 19, 13368235: 13368235
24 CACNA1A NM_001127221.1(CACNA1A): c.4522G> T (p.Ala1508Ser) single nucleotide variant Pathogenic rs886037946 GRCh38 Chromosome 19, 13257421: 13257421
25 CACNA1A NM_001127222.1(CACNA1A): c.1914-4G> A single nucleotide variant Benign/Likely benign rs191026552 GRCh38 Chromosome 19, 13307858: 13307858
26 CACNA1A NM_001127222.1(CACNA1A): c.1914-4G> A single nucleotide variant Benign/Likely benign rs191026552 GRCh37 Chromosome 19, 13418672: 13418672
27 CACNA1A NM_001127222.1(CACNA1A): c.1518T> C (p.Val506=) single nucleotide variant Benign rs16009 GRCh38 Chromosome 19, 13317149: 13317149
28 CACNA1A NM_001127222.1(CACNA1A): c.1518T> C (p.Val506=) single nucleotide variant Benign rs16009 GRCh37 Chromosome 19, 13427963: 13427963
29 CACNA1A NM_001127222.1(CACNA1A): c.1345+7C> T single nucleotide variant Benign/Likely benign rs192536793 GRCh38 Chromosome 19, 13330237: 13330237
30 CACNA1A NM_001127222.1(CACNA1A): c.1345+7C> T single nucleotide variant Benign/Likely benign rs192536793 GRCh37 Chromosome 19, 13441051: 13441051
31 CACNA1A NM_001127221.1(CACNA1A): c.1575T> A (p.Ile525=) single nucleotide variant Benign/Likely benign rs16010 GRCh37 Chromosome 19, 13423579: 13423579
32 CACNA1A NM_001127221.1(CACNA1A): c.1575T> A (p.Ile525=) single nucleotide variant Benign/Likely benign rs16010 GRCh38 Chromosome 19, 13312765: 13312765
33 CACNA1A NM_001127221.1(CACNA1A): c.5136+10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs369033909 GRCh37 Chromosome 19, 13346013: 13346013
34 CACNA1A NM_001127221.1(CACNA1A): c.5136+10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs369033909 GRCh38 Chromosome 19, 13235199: 13235199
35 CACNA1A NM_001127221.1(CACNA1A): c.4224C> T (p.Asp1408=) single nucleotide variant Conflicting interpretations of pathogenicity rs201200430 GRCh37 Chromosome 19, 13372293: 13372293
36 CACNA1A NM_001127221.1(CACNA1A): c.4224C> T (p.Asp1408=) single nucleotide variant Conflicting interpretations of pathogenicity rs201200430 GRCh38 Chromosome 19, 13261479: 13261479
37 CACNA1A NM_001127221.1(CACNA1A): c.2681G> A (p.Arg894Gln) single nucleotide variant Benign/Likely benign rs374664760 GRCh37 Chromosome 19, 13409769: 13409769
38 CACNA1A NM_001127221.1(CACNA1A): c.2681G> A (p.Arg894Gln) single nucleotide variant Benign/Likely benign rs374664760 GRCh38 Chromosome 19, 13298955: 13298955
39 CACNA1A NM_001127221.1(CACNA1A): c.3534C> A (p.Pro1178=) single nucleotide variant Conflicting interpretations of pathogenicity rs184723350 GRCh37 Chromosome 19, 13397339: 13397339
40 CACNA1A NM_001127221.1(CACNA1A): c.3534C> A (p.Pro1178=) single nucleotide variant Conflicting interpretations of pathogenicity rs184723350 GRCh38 Chromosome 19, 13286525: 13286525
41 CACNA1A NM_001127221.1(CACNA1A): c.5655C> T (p.Val1885=) single nucleotide variant Conflicting interpretations of pathogenicity rs17846921 GRCh37 Chromosome 19, 13335560: 13335560
42 CACNA1A NM_001127221.1(CACNA1A): c.5655C> T (p.Val1885=) single nucleotide variant Conflicting interpretations of pathogenicity rs17846921 GRCh38 Chromosome 19, 13224746: 13224746
43 CACNA1A NM_001127221.1(CACNA1A): c.2679C> T (p.Ser893=) single nucleotide variant Conflicting interpretations of pathogenicity rs780515850 GRCh37 Chromosome 19, 13409771: 13409771
44 CACNA1A NM_001127221.1(CACNA1A): c.2679C> T (p.Ser893=) single nucleotide variant Conflicting interpretations of pathogenicity rs780515850 GRCh38 Chromosome 19, 13298957: 13298957
45 CACNA1A NM_001127221.1(CACNA1A): c.5735-6T> C single nucleotide variant Benign rs16043 GRCh37 Chromosome 19, 13325428: 13325428
46 CACNA1A NM_001127221.1(CACNA1A): c.5735-6T> C single nucleotide variant Benign rs16043 GRCh38 Chromosome 19, 13214614: 13214614
47 CACNA1A NM_001127221.1(CACNA1A): c.3621A> G (p.Glu1207=) single nucleotide variant Conflicting interpretations of pathogenicity rs201236364 GRCh37 Chromosome 19, 13395956: 13395956
48 CACNA1A NM_001127221.1(CACNA1A): c.3621A> G (p.Glu1207=) single nucleotide variant Conflicting interpretations of pathogenicity rs201236364 GRCh38 Chromosome 19, 13285142: 13285142
49 CACNA1A NM_001127221.1(CACNA1A): c.1398G> A (p.Ser466=) single nucleotide variant Conflicting interpretations of pathogenicity rs374307014 GRCh37 Chromosome 19, 13428086: 13428086
50 CACNA1A NM_001127221.1(CACNA1A): c.1398G> A (p.Ser466=) single nucleotide variant Conflicting interpretations of pathogenicity rs374307014 GRCh38 Chromosome 19, 13317272: 13317272

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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