EIEE48
MCID: EPL191
MIFTS: 24

Epileptic Encephalopathy, Early Infantile, 48 (EIEE48)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic 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 58 76 30 6
Eiee48 58 76
Early Infantile Epileptic Encephalopathy 48 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy


HPO:

33
epileptic encephalopathy, early infantile, 48:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 48

UniProtKB/Swiss-Prot : 76 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 related phenotypes are microcephaly and status epilepticus

Disease Ontology : 12 An early infantile epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has material basis in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25.

OMIM : 58 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 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, 48

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

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 microcephaly 33 occasional (7.5%) HP:0000252
2 status epilepticus 33 occasional (7.5%) HP:0002133
3 cerebellar atrophy 33 occasional (7.5%) HP:0001272
4 hypoplasia of the corpus callosum 33 occasional (7.5%) HP:0002079
5 cerebral atrophy 33 occasional (7.5%) HP:0002059
6 hypsarrhythmia 33 occasional (7.5%) HP:0002521
7 global developmental delay 33 HP:0001263
8 dyskinesia 33 HP:0100660
9 absent speech 33 HP:0001344
10 rod-cone dystrophy 33 HP:0000510
11 generalized hypotonia 33 HP:0001290
12 epileptic encephalopathy 33 HP:0200134
13 poor eye contact 33 HP:0000817

Symptoms via clinical synopsis from OMIM:

58
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

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 30 AP3B2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 48

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

42
Eye

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.1837del (p.Glu613Serfs) deletion Pathogenic rs1057519272 GRCh37 Chromosome 15, 83335514: 83335514
11 AP3B2 NM_001278512.1(AP3B2): c.1837del (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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
36 ICD9CM
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50 NCI
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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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