EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17

General Information (adopted from Orphanet):

Synonyms, Signs: EIEE17
Number of Symptoms 17
OrphanetNr:
OMIM Id: 615473
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001344) Absent speech 57 / 7739
2
(HPO:0002521) Hypsarrhythmia 43 / 7739
3
(HPO:0002305) Athetosis rare [HPO:skoehler] 31 / 7739
4
(HPO:0002072) Chorea rare [HPO:skoehler] 53 / 7739
5
(HPO:0010818) Generalized tonic seizures 8 / 7739
6
(HPO:0001263) Global developmental delay 853 / 7739
7
(HPO:0200134) Epileptic encephalopathy 42 / 7739
8
(HPO:0001332) Dystonia rare [HPO:skoehler] 197 / 7739
9
(HPO:0012448) Delayed myelination 51 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
(OMIM) Seizures, tonic 3 / 7739
12
(HPO:0002059) Cerebral atrophy 171 / 7739
13
(OMIM) Intractable seizures 12 / 7739
14
(OMIM) Multifocal spike waves 1 / 7739
15
(OMIM) EEG shows burst suppression pattern 3 / 7739
16
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
17
(OMIM) Lack of speech 17 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Early infantile epileptic encephalopathy-17 is a severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may ...
Clinical Description OMIM Nakamura et al. (2013) reported 4 unrelated girls with early infantile epileptic encephalopathy. Three patients had onset of intractable tonic seizures in the first weeks of life associated with suppression-burst pattern on EEG; the fourth patient presented with ...
Molecular genetics OMIM In 4 unrelated girls with early infantile epileptic encephalopathy-17, Nakamura et al. (2013) identified 4 different de novo heterozygous mutations in the GNAO1 gene (139311.0001-139311.0004). One of the patients was somatic mosaic for the mutation. The mutations in ...