EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13

General Information (adopted from Orphanet):

Synonyms, Signs: EIEE13
Number of Symptoms 21
OrphanetNr:
OMIM Id: 614558
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:0000252) Microcephaly 832 / 7739
2
(HPO:0200134) Epileptic encephalopathy 42 / 7739
3
(HPO:0001263) Global developmental delay 853 / 7739
4
(HPO:0000717) Autism 108 / 7739
5
(HPO:0011097) Epileptic spasms 45 / 7739
6
(HPO:0002376) Developmental regression 74 / 7739
7
(HPO:0001249) Intellectual disability 1089 / 7739
8
(HPO:0001324) Muscle weakness 859 / 7739
9
(HPO:0010547) Muscle flaccidity 466 / 7739
10
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
11
(HPO:0001252) Muscular hypotonia 990 / 7739
12
(OMIM) Slow spike-wave discharges 1 / 7739
13
(HPO:0002059) Cerebral atrophy rare [HPO:skoehler] 171 / 7739
14
(OMIM) Refractory seizures 15 / 7739
15
(OMIM) Impaired balance 3 / 7739
16
(OMIM) Generalized spike-wave activity seen on EEG 1 / 7739
17
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
(OMIM) Multifocal spikes 1 / 7739
19
(OMIM) Speech and language regression 1 / 7739
20
(OMIM) Impaired coordination 2 / 7739
21
(OMIM) Diffuse slowing 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Veeramah et al. (2012) reported a girl with early-onset epileptic encephalopathy. She developed refractory generalized seizures at age 6 months. At age 4 years, the seizure phenotype changed to epileptic spasms, followed by regression of speech and language ...
Molecular genetics OMIM In a girl with infantile epileptic encephalopathy-13, Veeramah et al. (2012) identified a de novo heterozygous mutation in the SCN8A gene (N1768D; 600702.0002). The mutation was identified by whole-genome sequencing. In vitro functional expression studies showed that the ...