EIEE69
MCID: EPL233
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 69 (EIEE69)

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 76 6
Eiee69 58 76

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:



Summaries for Epileptic Encephalopathy, Early Infantile, 69

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 69: 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. EIEE69 is an autosomal dominant form 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.

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 and liver, and related phenotypes are nystagmus and hyperreflexia

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)

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 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 69

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 69:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 hyperreflexia 33 HP:0001347
3 spastic tetraplegia 33 HP:0002510
4 myoclonus 33 HP:0001336
5 absent speech 33 HP:0001344
6 dystonia 33 HP:0001332
7 inability to walk 33 HP:0002540
8 cerebral cortical atrophy 33 HP:0002120
9 arthrogryposis multiplex congenita 33 HP:0002804
10 epileptic encephalopathy 33 HP:0200134
11 status epilepticus 33 HP:0002133
12 hypsarrhythmia 33 HP:0002521
13 corpus callosum atrophy 33 HP:0007371
14 muscular hypotonia of the trunk 33 HP:0008936
15 cerebral visual impairment 33 HP:0100704

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
roving eye movements
cortical visual impairment
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, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 69

Articles related to Epileptic Encephalopathy, Early Infantile, 69:

# Title Authors Year
1
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. ( 30343943 )
2018

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
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10 dbSNP
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17 EFO
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31 HGMD
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35 ICD10 via Orphanet
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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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