EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4

General Information (adopted from Orphanet):

Synonyms, Signs: EIEE4
Number of Symptoms 31
OrphanetNr:
OMIM Id: 612164
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001151) Impaired horizontal smooth pursuit 7 / 7739
2
(HPO:0010851) EEG with burst suppression 2 / 7739
3
(HPO:0007105) Infantile encephalopathy 5 / 7739
4
(HPO:0010818) Generalized tonic seizures 8 / 7739
5
(HPO:0002133) Status epilepticus 59 / 7739
6
(HPO:0002376) Developmental regression 74 / 7739
7
(HPO:0011097) Epileptic spasms 45 / 7739
8
(HPO:0002521) Hypsarrhythmia 43 / 7739
9
(HPO:0010864) Intellectual disability, severe 120 / 7739
10
(HPO:0200134) Epileptic encephalopathy 42 / 7739
11
(HPO:0002123) Generalized myoclonic seizures 62 / 7739
12
(HPO:0001344) Absent speech 57 / 7739
13
(HPO:0001337) Tremor 200 / 7739
14
(HPO:0001258) Spastic paraplegia 97 / 7739
15
(HPO:0002510) Spastic tetraplegia 54 / 7739
16
(HPO:0011344) Severe global developmental delay 46 / 7739
17
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
18
(HPO:0010547) Muscle flaccidity 466 / 7739
19
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
20
(HPO:0001252) Muscular hypotonia 990 / 7739
21
(HPO:0001324) Muscle weakness 859 / 7739
22
(HPO:0003623) Neonatal onset 22 / 7739
23
(OMIM) Seizures, tonic 3 / 7739
24
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
25
(HPO:0006808) Cerebral hypomyelination 16 / 7739
26
(HPO:0002059) Cerebral atrophy 171 / 7739
27
(OMIM) Brain hypomyelination 2 / 7739
28
(OMIM) No language development 3 / 7739
29
(OMIM) Poor visual pursuit 1 / 7739
30
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
31
(OMIM) EEG shows burst suppression pattern 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tohyama et al. (2008) reported a Japanese infant girl who developed tonic seizures, tremulous arm movements, and oral automatisms at 45 days of age. Her dizygotic twin was unaffected; the pregnancy resulted from in vivo fertilization. The proband ...
Molecular genetics OMIM In a Japanese girl with early infantile epileptic encephalopathy (Tohyama et al., 2008), Saitsu et al. (2008) identified a de novo heterozygous microdeletion at chromosome 9q33.3-q34.11 including the STXBP1 gene. Screening of this gene in 13 additional unrelated ...