EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

General Information (adopted from Orphanet):

Synonyms, Signs: EIEE11
Number of Symptoms 11
OrphanetNr:
OMIM Id: 613721
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:0002069) Generalized tonic-clonic seizures 96 / 7739
2
(HPO:0002133) Status epilepticus 59 / 7739
3
(HPO:0002510) Spastic tetraplegia 54 / 7739
4
(HPO:0200134) Epileptic encephalopathy 42 / 7739
5
(HPO:0001263) Global developmental delay 853 / 7739
6
(OMIM) Febrile seizures may occur 4 / 7739
7
(HPO:0003828) Variable expressivity 130 / 7739
8
(OMIM) EEG shows suppression with ictal burst activities 1 / 7739
9
(HPO:0003593) Infantile onset 249 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
(OMIM) EEG shows abundant slow waves and fast spike activity 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) EIEE11 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities (Ogiwara et al., 2009).

For a general phenotypic description and a discussion of ...

Clinical Description OMIM Kamiya et al. (2004) reported a 29-year-old Japanese woman with delayed onset of early infantile epileptic encephalopathy-11. She had onset of seizures at age 1 year, 7 months, and thereafter became hyperkinetic and autistic. The EEG was reported ...
Molecular genetics OMIM In a 29-year-old Japanese woman with delayed onset of early infantile epileptic encephalopathy-11, Kamiya et al. (2004) identified a de novo heterozygous truncating mutation in the SCN2A gene (R102X; 182390.0008). Electrophysiologic studies in HEK293 cells showed that the ...