EIEE81
MCID: EPL248
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 81 (EIEE81)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 81

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 81:

Name: Epileptic Encephalopathy, Early Infantile, 81 56 73 29 6
Eiee81 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset soon after birth
death in childhood (in some patients)


Classifications:



External Ids:

OMIM 56 618663
OMIM Phenotypic Series 56 PS308350
MeSH 43 D013036
MedGen 41 CN262871

Summaries for Epileptic Encephalopathy, Early Infantile, 81

OMIM : 56 Early infantile epileptic encephalopathy-81 (EIEE81) is an autosomal recessive neurodevelopmental disorder characterized by onset of severe refractory seizures soon after birth. Affected individuals show little developmental progress with no eye contact and no motor or cognitive development. Other features may include facial dysmorphism, such as hypotonic facies and epicanthal folds, as well as sensorineural hearing loss and peripheral neuropathy. Brain imaging shows cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy (summary by Esposito et al., 2019). For a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (618663)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 81, is also known as eiee81. An important gene associated with Epileptic Encephalopathy, Early Infantile, 81 is DMXL2 (Dmx Like 2). Affiliated tissues include eye and brain.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 81: A form of epileptic encephalopathy, a heterogeneous group of severe early-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. EIEE81 is an autosomal recessive form characterized by onset soon after birth, little developmental progress with no eye contact and no motor or cognitive development. Other features may include facial dysmorphism, such as hypotonic facies and epicanthal folds, as well as sensorineural hearing loss and peripheral neuropathy.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 81

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
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Epileptic Encephalopathy, Early Infantile, 84
Epileptic Encephalopathy, Early Infantile, 86 Arx-Related Epileptic Encephalopathy

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 81

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
peripheral neuropathy

Head And Neck Face:
short philtrum
high forehead
myopathic facies
short forehead

Muscle Soft Tissue:
hypotonia
limb edema, non-pitting (in some patients)

Head And Neck Mouth:
high-arched palate

Head And Neck Head:
microcephaly (in some patients)
macrocephaly (in some patients)

Head And Neck Ears:
low-set ears
sensorineural hearing loss

Neurologic Central Nervous System:
leukoencephalopathy
cerebral atrophy
epileptic encephalopathy
delayed myelination
thin corpus callosum
more
Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds
no eye contact

Head And Neck Nose:
saddle nose

Respiratory:
respiratory insufficiency, neonatal

Clinical features from OMIM:

618663

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 81

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 81

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 81

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 81:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 81 29

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 81

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 81:

40
Eye, Brain

Publications for Epileptic Encephalopathy, Early Infantile, 81

Articles related to Epileptic Encephalopathy, Early Infantile, 81:

# Title Authors PMID Year
1
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course. 6 56
31688942 2019
2
Autozygome and high throughput confirmation of disease genes candidacy. 56 6
30237576 2019
3
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
4
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 81

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 81:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DMXL2 NM_015263.4(DMXL2):c.6257_6258insTTACATGA (p.Glu2086fs)insertion Pathogenic 694529 15:51773045-51773046 15:51480848-51480849
2 DMXL2 NM_001174117.2(DMXL2):c.2765-3612C>GSNV Pathogenic 694531 15:51790943-51790943 15:51498746-51498746
3 DMXL2 NM_015263.4(DMXL2):c.5135C>T (p.Ala1712Val)SNV Pathogenic 694532 15:51780233-51780233 15:51488036-51488036
4 DMXL2 NM_015263.4(DMXL2):c.7518-1G>ASNV Pathogenic 694533 15:51757849-51757849 15:51465652-51465652
5 DMXL2 NM_001174117.2(DMXL2):c.2765-3612C>ASNV Pathogenic 694530 15:51790943-51790943 15:51498746-51498746

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 81:

73
# Symbol AA change Variation ID SNP ID
1 DMXL2 p.Ala1712Val VAR_083447

Expression for Epileptic Encephalopathy, Early Infantile, 81

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 81.

Pathways for Epileptic Encephalopathy, Early Infantile, 81

GO Terms for Epileptic Encephalopathy, Early Infantile, 81

Sources for Epileptic Encephalopathy, Early Infantile, 81

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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