MCID: EPL233
MIFTS: 17

Epileptic Encephalopathy, Early Infantile, 69

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 69

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 69:

Name: Epileptic Encephalopathy, Early Infantile, 69 58 6
Eiee69 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in early infancy
death in childhood may occur
topiramate may have a favorable response on seizures


Classifications:



External Ids:

OMIM 58 618285

Summaries for Epileptic Encephalopathy, Early Infantile, 69

OMIM : 58 Infantile epileptic encephalopathy-69 (EIEE69) is an autosomal dominant severe neurodevelopmental encephalopathic disorder characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development often associated with macrocephaly, hyperkinetic movements, and contractures. The disorder can sometimes result in early death. Some patients may have a favorable seizure response to topiramate medication (summary by Helbig et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (618285)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 69, is also known as eiee69. An important gene associated with Epileptic Encephalopathy, Early Infantile, 69 is CACNA1E (Calcium Voltage-Gated Channel Subunit Alpha1 E). Affiliated tissues include eye.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 69

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, 69

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
cortical visual impairment
roving eye movements
poor or absent eye contact

Skeletal:
arthrogryposis
congenital contractures

Muscle Soft Tissue:
appendicular hypertonia
axial hypotonia, severe

Neurologic Central Nervous System:
hyperreflexia
myoclonus
absent speech
dystonia
inability to walk
more
Head And Neck Head:
macrocephaly (in some patients)

Clinical features from OMIM:

618285

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 69

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 69

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 69

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 69

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 69:

42
Eye

Publications for Epileptic Encephalopathy, Early Infantile, 69

Variations for Epileptic Encephalopathy, Early Infantile, 69

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 69:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1E NM_001205293.2(CACNA1E): c.2093T> C (p.Phe698Ser) single nucleotide variant Likely pathogenic rs869312920 GRCh37 Chromosome 1, 181693624: 181693624
2 CACNA1E NM_001205293.2(CACNA1E): c.2093T> C (p.Phe698Ser) single nucleotide variant Likely pathogenic rs869312920 GRCh38 Chromosome 1, 181724488: 181724488
3 CACNA1E NM_000721.3(CACNA1E): c.1054G> A (p.Gly352Arg) single nucleotide variant Pathogenic rs886039323 GRCh37 Chromosome 1, 181620576: 181620576
4 CACNA1E NM_000721.3(CACNA1E): c.1054G> A (p.Gly352Arg) single nucleotide variant Pathogenic rs886039323 GRCh38 Chromosome 1, 181651440: 181651440
5 CACNA1E NM_000721.3(CACNA1E): c.1807A> C (p.Ile603Leu) single nucleotide variant Likely pathogenic rs778291283 GRCh37 Chromosome 1, 181689397: 181689397
6 CACNA1E NM_000721.3(CACNA1E): c.1807A> C (p.Ile603Leu) single nucleotide variant Likely pathogenic rs778291283 GRCh38 Chromosome 1, 181720261: 181720261
7 CACNA1E NM_001205293.1(CACNA1E): c.2104G> A (p.Ala702Thr) single nucleotide variant Uncertain significance rs12131800 GRCh37 Chromosome 1, 181693635: 181693635
8 CACNA1E NM_001205293.1(CACNA1E): c.2104G> A (p.Ala702Thr) single nucleotide variant Uncertain significance rs12131800 GRCh38 Chromosome 1, 181724499: 181724499
9 CACNA1E NM_001205293.2(CACNA1E): c.2101A> G (p.Ile701Val) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 181724496: 181724496
10 CACNA1E NM_001205293.2(CACNA1E): c.2101A> G (p.Ile701Val) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 181693632: 181693632

Expression for Epileptic Encephalopathy, Early Infantile, 69

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 69.

Pathways for Epileptic Encephalopathy, Early Infantile, 69

GO Terms for Epileptic Encephalopathy, Early Infantile, 69

Sources for Epileptic Encephalopathy, Early Infantile, 69

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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