EIEE48
MCID: EPL191
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 48 (EIEE48)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 48

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 48:

Name: Epileptic Encephalopathy, Early Infantile, 48 57 75 29 6
Eiee48 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy


HPO:

32
epileptic encephalopathy, early infantile, 48:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 48

UniProtKB/Swiss-Prot : 75 Epileptic encephalopathy, early infantile, 48: 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. EIEE48 is an autosomal recessive form characterized by onset of seizures in the first year of life. Affected individuals manifest global developmental delay, intellectual disability, absent speech, and poor, if any, motor development.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 48, is also known as eiee48. An important gene associated with Epileptic Encephalopathy, Early Infantile, 48 is AP3B2 (Adaptor Related Protein Complex 3 Subunit Beta 2). Affiliated tissues include eye and liver, and related phenotypes are global developmental delay and dyskinesia

OMIM : 57 Early infantile epileptic encephalopathy-48 is a severe autosomal recessive neurologic disorder characterized by global developmental delay with intellectual disability and absent speech, poor, if any, motor development, and onset of seizures in the first year of life. Affected individuals have poor eye contact and may develop microcephaly and abnormal movements (summary by Assoum et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (617276)

Related Diseases for Epileptic Encephalopathy, Early Infantile, 48

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
Epileptic Encephalopathy, Early Infantile, 66 Epileptic Encephalopathy, Early Infantile, 67
Early Infantile Epileptic Encephalopathy 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, 48

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
epileptic encephalopathy
seizures, refractory
sleep disorder
dyskinesias
cerebellar atrophy (in some patients)
more
Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
poor eye contact
optic nerve pallor (in some patients)
retinitis pigmentosa (in 1 family)

Head And Neck Head:
microcephaly (in some patients)


Clinical features from OMIM:

617276

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 48:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 dyskinesia 32 HP:0100660
3 microcephaly 32 occasional (7.5%) HP:0000252
4 absent speech 32 HP:0001344
5 status epilepticus 32 occasional (7.5%) HP:0002133
6 rod-cone dystrophy 32 HP:0000510
7 cerebellar atrophy 32 occasional (7.5%) HP:0001272
8 generalized hypotonia 32 HP:0001290
9 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
10 cerebral atrophy 32 occasional (7.5%) HP:0002059
11 hypsarrhythmia 32 occasional (7.5%) HP:0002521
12 epileptic encephalopathy 32 HP:0200134
13 poor eye contact 32 HP:0000817

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 48

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 48

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 48

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 48:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 48 29 AP3B2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 48

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 48:

41
Eye, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 48

Variations for Epileptic Encephalopathy, Early Infantile, 48

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 48:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 AP3B2 NM_004644.4(AP3B2): c.1182G> A (p.Lys394=) single nucleotide variant Pathogenic rs1057519269 GRCh38 Chromosome 15, 82679729: 82679729
2 AP3B2 NM_004644.4(AP3B2): c.1182G> A (p.Lys394=) single nucleotide variant Pathogenic rs1057519269 GRCh37 Chromosome 15, 83348481: 83348481
3 AP3B2 NM_004644.4(AP3B2): c.1110+1G> C single nucleotide variant Pathogenic rs1057519270 GRCh37 Chromosome 15, 83348926: 83348926
4 AP3B2 NM_004644.4(AP3B2): c.1110+1G> C single nucleotide variant Pathogenic rs1057519270 GRCh38 Chromosome 15, 82680174: 82680174
5 AP3B2 NM_004644.4(AP3B2): c.1489-245_1665+2029del deletion Pathogenic
6 AP3B2 NM_004644.4(AP3B2): c.2522_2525delTCAC (p.Leu841Glnfs) deletion Pathogenic rs1057519271 GRCh37 Chromosome 15, 83331901: 83331904
7 AP3B2 NM_004644.4(AP3B2): c.2522_2525delTCAC (p.Leu841Glnfs) deletion Pathogenic rs1057519271 GRCh38 Chromosome 15, 82663149: 82663152
8 AP3B2 NM_004644.4(AP3B2): c.199C> T (p.Arg67Ter) single nucleotide variant Pathogenic rs775024756 GRCh37 Chromosome 15, 83357975: 83357975
9 AP3B2 NM_004644.4(AP3B2): c.199C> T (p.Arg67Ter) single nucleotide variant Pathogenic rs775024756 GRCh38 Chromosome 15, 82689223: 82689223
10 AP3B2 NM_001278512.1(AP3B2): c.1837delG (p.Glu613Serfs) deletion Pathogenic rs1057519272 GRCh37 Chromosome 15, 83335514: 83335514
11 AP3B2 NM_001278512.1(AP3B2): c.1837delG (p.Glu613Serfs) deletion Pathogenic rs1057519272 GRCh38 Chromosome 15, 82666762: 82666762

Expression for Epileptic Encephalopathy, Early Infantile, 48

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 48.

Pathways for Epileptic Encephalopathy, Early Infantile, 48

GO Terms for Epileptic Encephalopathy, Early Infantile, 48

Sources for Epileptic Encephalopathy, Early Infantile, 48

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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