EIEE84
MCID: EPL252
MIFTS: 24

Epileptic Encephalopathy, Early Infantile, 84 (EIEE84)

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, 84

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 84:

Name: Epileptic Encephalopathy, Early Infantile, 84 56 73 6
Jamuar Syndrome 56 73
Eiee84 56 73
Encephalopathy, Epileptic, Early Infantile, Type 84 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in the first months of life
death in childhood (in some patients)
seizures are usually refractory to medication


HPO:

31
epileptic encephalopathy, early infantile, 84:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 84

OMIM : 56 Early infantile epileptic encephalopathy-84 (EIEE84) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first months of life. Affected individuals have severely impaired global development with impaired intellectual development, absent speech, and inability to walk. Other features include axial hypotonia, peripheral spasticity, feeding difficulties that sometimes necessitate tube feeding, and mild dysmorphic facial features. Brain imaging may show nonspecific findings such as cerebral/cerebellar atrophy and/or hypomyelination. The severity of the disorder is variable (summary by Hengel et al., 2020). For a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (618792)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 84, is also known as jamuar syndrome. An important gene associated with Epileptic Encephalopathy, Early Infantile, 84 is UGDH (UDP-Glucose 6-Dehydrogenase). Affiliated tissues include brain and eye, and related phenotypes are microcephaly and smooth philtrum

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 84: 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. EIEE84 is an autosomal recessive form characterized by onset of refractory seizures in the first months of life.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 84

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, 84

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 84:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 smooth philtrum 31 very rare (1%) HP:0000319
3 thick lower lip vermilion 31 very rare (1%) HP:0000179
4 hyperreflexia 31 very rare (1%) HP:0001347
5 epicanthus 31 very rare (1%) HP:0000286
6 deeply set eye 31 very rare (1%) HP:0000490
7 areflexia 31 very rare (1%) HP:0001284
8 pointed chin 31 very rare (1%) HP:0000307
9 dystonia 31 very rare (1%) HP:0001332
10 large earlobe 31 very rare (1%) HP:0009748
11 synophrys 31 very rare (1%) HP:0000664
12 plagiocephaly 31 very rare (1%) HP:0001357
13 babinski sign 31 very rare (1%) HP:0003487
14 gastrostomy tube feeding in infancy 31 very rare (1%) HP:0011471
15 generalized hypotonia 31 very rare (1%) HP:0001290
16 short palpebral fissure 31 very rare (1%) HP:0012745
17 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
18 epileptic encephalopathy 31 very rare (1%) HP:0200134
19 opisthotonus 31 very rare (1%) HP:0002179
20 delayed ability to sit 31 very rare (1%) HP:0025336
21 epileptic spasm 31 very rare (1%) HP:0011097
22 ptosis 31 HP:0000508
23 ventriculomegaly 31 HP:0002119
24 blepharophimosis 31 HP:0000581
25 chorea 31 HP:0002072
26 severe global developmental delay 31 HP:0011344
27 hypsarrhythmia 31 HP:0002521
28 eeg with burst suppression 31 HP:0010851
29 delayed cns myelination 31 HP:0002188

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
seizures
spasticity
tremor
hyperreflexia
more
Head And Neck Eyes:
ptosis
blepharophimosis
synophrys
epicanthal folds
deep-set eyes

Head And Neck Ears:
protruding ears

Abdomen Gastrointestinal:
feeding difficulties
tube feeding

Head And Neck Face:
short philtrum
pointed chin
flat philtrum
dysmorphic facial features (in some patients)

Head And Neck Mouth:
full lower lip

Clinical features from OMIM:

618792

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 84

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 84

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 84

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 84

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 84:

40
Brain, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 84

Articles related to Epileptic Encephalopathy, Early Infantile, 84:

# Title Authors PMID Year
1
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. 6 56
32001716 2020
2
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
3
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 84

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 84:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UGDH NM_003359.4(UGDH):c.950G>A (p.Arg317Gln)SNV Pathogenic/Likely pathogenic 592087 rs775162839 4:39507325-39507325 4:39505705-39505705
2 UGDH NM_003359.4(UGDH):c.1100A>G (p.Tyr367Cys)SNV Pathogenic/Likely pathogenic 810646 4:39506928-39506928 4:39505308-39505308
3 UGDH NM_003359.4(UGDH):c.244G>A (p.Ala82Thr)SNV Pathogenic/Likely pathogenic 810656 4:39515723-39515723 4:39514103-39514103
4 UGDH NM_003359.4(UGDH):c.214T>G (p.Ser72Ala)SNV Pathogenic/Likely pathogenic 810657 4:39515753-39515753 4:39514133-39514133
5 UGDH NM_003359.4(UGDH):c.193C>T (p.Arg65Ter)SNV Pathogenic/Likely pathogenic 810658 4:39515774-39515774 4:39514154-39514154
6 UGDH NM_003359.4(UGDH):c.131C>T (p.Ala44Val)SNV Pathogenic/Likely pathogenic 810659 4:39523002-39523002 4:39521382-39521382
7 UGDH NM_003359.4(UGDH):c.41A>G (p.Tyr14Cys)SNV Pathogenic/Likely pathogenic 810662 4:39523092-39523092 4:39521472-39521472

Expression for Epileptic Encephalopathy, Early Infantile, 84

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 84.

Pathways for Epileptic Encephalopathy, Early Infantile, 84

GO Terms for Epileptic Encephalopathy, Early Infantile, 84

Sources for Epileptic Encephalopathy, Early Infantile, 84

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
Content
Loading form....