EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5

General Information (adopted from Orphanet):

Synonyms, Signs: EIEE5
Number of Symptoms 28
OrphanetNr:
OMIM Id: 613477
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000253) Progressive microcephaly common [HPO:skoehler] 37 / 7739
2
(HPO:0010864) Intellectual disability, severe 120 / 7739
3
(HPO:0001347) Hyperreflexia 363 / 7739
4
(HPO:0200134) Epileptic encephalopathy 42 / 7739
5
(HPO:0002510) Spastic tetraplegia 54 / 7739
6
(HPO:0002187) Intellectual disability, profound 44 / 7739
7
(HPO:0001250) Seizures 1245 / 7739
8
(HPO:0002521) Hypsarrhythmia 43 / 7739
9
(HPO:0001324) Muscle weakness 859 / 7739
10
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
11
(HPO:0010547) Muscle flaccidity 466 / 7739
12
(HPO:0001252) Muscular hypotonia 990 / 7739
13
(HPO:0003593) Infantile onset 249 / 7739
14
(HPO:0003429) CNS hypomyelination 21 / 7739
15
(OMIM) Diffuse hypomyelination 1 / 7739
16
(HPO:0002059) Cerebral atrophy 171 / 7739
17
(OMIM) Lack of speech development 20 / 7739
18
(OMIM) Mental retardation, severe to profound 4 / 7739
19
(OMIM) Lack of visual attention 1 / 7739
20
(OMIM) Lack of independent ambulation 6 / 7739
21
(OMIM) Seizures, tonic, intractable 1 / 7739
22
(OMIM) Brainstem atrophy 5 / 7739
23
(HPO:0001272) Cerebellar atrophy 197 / 7739
24
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
25
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
26
(HPO:0003828) Variable expressivity 130 / 7739
27
(OMIM) Widespread brain atrophy 1 / 7739
28
(OMIM) No visual attention 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tohyama et al. (2008) reported 2 unrelated Japanese infants, a girl and a boy, with early infantile epileptic encephalopathy. Both had onset of intractable seizures associated with hypsarrhythmia at age 3 months. Both had profound mental retardation with ...
Molecular genetics OMIM In 2 unrelated Japanese patients with EIEE5, previously reported by Tohyama et al. (2008), Saitsu et al. (2010) identified different de novo heterozygous mutations (182810.0001-182810.0002) in the SPTAN1 gene. In vitro functional expression studies suggested a dominant-negative effect ...